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Sample records for congenital cataract linked

  1. Review Recent progress in identification and characterization of loci associated with sex-linked congenital cataract.

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    Zhang, D D; Du, J Z; Topolewski, J; Wang, X M

    2016-07-29

    Congenital cataract is a common cause of blindness in children; however, its pathogenesis remains unclear. Genetic factors have been shown to play an important role in the pathogenesis of congenital cataract. The current genetic models of congenital cataract include autosomal dominant, autosomal recessive, and sex-linked inheritance. Sex-linked congenital cataract could be inherited through the X or Y chromosome. Congenital cataract is a symptom associated with several X-linked disorders, including Nance-Horan syndrome, Lowe syndrome, Conradi-Hünermann-Happle syndrome, oculo-facio-cardio-dental syndrome, and Alport syndrome. On the other hand, the mechanism and characteristics of Y-linked congenital cataract remains to be identified. Despite its rarity, sex-linked congenital cataract has been known to seriously affect the quality of life of patients. In this review, we present our current understanding of the genes and loci associated with sex-linked congenital cataract. This could help identify novel approaches for the prevention, early diagnosis, and comprehensive disease treatment.

  2. Cytomegalovirus Congenital Cataract

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    Ridha Wahyutomo

    2011-06-01

    Full Text Available Cytomegalovirus congenital infection is an infection caused by the the subfamily â Herpesviridae, during pregnancy. The incidence of infections among newborn infants is 1 %. One of the effects of congenitally acquired infection is the congenital cataract. A 6-year-old child complained to have a blurred vision diagnosed with cytomegalovirus congenital cataract. The diagnosis was confirmed by a positive serology testing for Ig M and Ig G CMV. The laboratory test using Giemsa staining to find inclusion bodies and a faster PCR could not be carried out (Sains Medika, 3(1:84-88.

  3. Congenital cataract screening

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    Zhale Rajavi

    2016-01-01

    Full Text Available Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (1 year is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender.

  4. Relative efficiency of polymerase chain reaction and enzyme-linked immunosorbant assay in determination of viral etiology in congenital cataract in infants

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    Shyamala G

    2008-01-01

    Full Text Available Background: Perinatal viral infections of fetus are among the leading causes of congenital cataract and identifying the viral etiology is important. Objectives: To detect the presence of Rubella virus (RV, herpes simplex virus (HSV and cytomegalovirus (CMV in lens aspirate specimens obtained from patients with congenital cataract and relate the results with serology. Setting and Design: Prospective study carried out in tertiary care hospital. Materials and Methods: Fifty lens aspirates from 50 infants with congenital cataract were subjected to HSV, RV isolation and polymerase chain reaction (PCR for detection of HSV and CMV. Reverse transcription polymerase chain reaction (RT-PCR was applied for RV detection. Peripheral blood specimens were screened for anti-HSV, RV and CMV antibodies by enzyme-linked immunosorbant assay (ELISA. Results: Rubella virus was detected in nine (18% lens aspirates, by nRT-PCR which includes six positive by culture. HSV-2 DNA was detected in nine other lens aspirates, while CMV was not detected by PCR. Serological results did not correlate with the presence of viruses in the lens aspirates. This is the first report of detection of HSV-2 DNA in cases of congenital cataract. Conclusions: Cytomegalovirus may not be playing a significant role in causation of congenital cataract. The role of serology in identifying causative viral infection for congenital cataract needs to be re-evaluated.

  5. Adrenomyeloneuropathy associated with congenital cataract

    International Nuclear Information System (INIS)

    Komori, Tetsuo; Nagashima, Toshiko; Hirose, Kazuhiko; Tanabe, Hitoshi; Tsubaki, Tadao

    1988-01-01

    Two cases of adrenomyeloneuropathy (AMN) in a family and the results of their MRI study are reported. Case 1, a 24-year-old male proband, was admitted to our hospital because of gait disturbance for three years. Bilateral cataracts were pointed out at birth, which required left side lenticotomy at age four. Neurological examinations on admission revealed a marked spastic paraparesis with pathological reflexes and a mild hypesthesia in the distal part of the left leg. No abnormal findings were detected in X-ray studies on the spine and spinal cord, electromyography and nerve conduction test. Serum very long chain fatty acids (VLCFAs) levels were apparently elevated, and the serum cortisol response to ACTH was low. Case 2, a 53-year-old woman, is the mother of Case 1 having a complaint of gait disturbance since age 51. She presented a mild spastic paraparesis with localized hypesthesia in the distal part of the both legs. She also had bilateral congenital cataracts. Her serum VLCFAs analysis indicated the intermediate levels between that of AMN and the normal control. Adrenal functions were normal. Cranial MRI (TR 2,000 msec/TE 80 msec) study disclosed high signal intensity areas in bilateral internal capsules in Case 1. These findings, suggesting the pathological change of dysmyelination, seemed to be well compatible with the clinical pictures. With these clinical findings and the laboratory data, these two cases were diagnosed as AMN. In addition, association of congenital cataract with AMN in both cases was characteristic in this family, which hasn't been reported in the literature. On regarding the genetic background of these two disorders, AMN and congenital cataract, it was speculated that each gene could be closely located on the same or very adjacent locus, possibly on Xq. (author)

  6. Genetics Home Reference: hypomyelination and congenital cataract

    Science.gov (United States)

    ... Eye Institute: Facts About Cataract National Institute of Neurological Disorders and Stroke: Peripheral Neuropathy Fact Sheet Educational Resources (5 links) Boston Children's Hospital: Cataracts in Children Boston Children's Hospital: Nervous ...

  7. Deprivation amblyopia and congenital hereditary cataract.

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    Mansouri, Behzad; Stacy, Rebecca C; Kruger, Joshua; Cestari, Dean M

    2013-01-01

    Amblyopia is a neurodevelopmental disorder of vision associated with decreased visual acuity, poor or absent stereopsis, and suppression of information from one eye.(1,2) Amblyopia may be caused by strabismus (strabismic amblyopia), refractive error (anisometropic amblyopia), or deprivation from obstructed vision (deprivation amblyopia). 1 In the developed world, amblyopia is the most common cause of childhood visual impairment, 3 which reduces quality of life 4 and also almost doubles the lifetime risk of legal blindness.(5, 6) Successful treatment of amblyopia greatly depends on early detection and treatment of predisposing disorders such as congenital cataract, which is the most common cause of deprivational amblyopia. Understanding the genetic causes of congenital cataract leads to more effective screening tests, early detection and treatment of infants and children who are at high risk for hereditary congenital cataract.

  8. Inheritance of congenital cataracts and microphthalmia in the Miniature Schnauzer.

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    Gelatt, K N; Samuelson, D A; Bauer, J E; Das, N D; Wolf, E D; Barrie, K P; Andresen, T L

    1983-06-01

    Congenital cataracts and microphthalmia in the Miniature Schnauzer were inherited as an autosomal recessive trait. Eighteen matings of affected X affected Miniature Schnauzers resulted in 87 offspring with congenital cataracts and microphthalmia (49 males/38 females). Two matings of congenital cataractous and microphthalmic Miniature Schnauzers (2 females) X a normal Miniature Schnauzer (1 male) yielded 11 clinically normal Miniature Schnauzers (7 males/4 females). Eighteen matings of congenital cataractous and microphthalmic Miniature Schnauzers (6 males) X carrier Miniature Schnauzers (9 females) produced 81 offspring; 39 exhibited congenital cataracts and microphthalmia (20 males/19 females) and 42 had clinically normal eyes (17 males/25 females).

  9. Genetics Home Reference: congenital cataracts, facial dysmorphism, and neuropathy

    Science.gov (United States)

    ... Eye Institute: Facts About Cataracts National Institute of Neurological Disorders and Stroke: Hereditary Neuropathies Educational Resources (5 links) Boston Children's Hospital: Cataracts in Children Centers for Disease Control ...

  10. Factors associated with strabismus after cataract extraction and primary intraocular lens implantation in congenital cataracts

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    Soo Jung Lee

    2014-06-01

    Full Text Available AIM: To evaluate factors associated with the development of strabismus after cataract extraction and primary intraocular lens implantation.METHODS: The medical records of 122 patients, aged 1.5mo to 9y, who had undergone cataract extraction with primary intraocular lens implantation between January 1993 and August 2011 were reviewed. Fourteen patients (17 eyes with strabismus before cataract surgery were excluded. Patients were divided into those with congenital bilateral cataracts (64 patients, 128 eyes and those with unilateral cataracts (44 patients, 44 eyes. The associations between the development of strabismus and age at cataract surgery, pre- and post-cataract extraction corrected distance visual acuity (CDVA, interocular CDVA difference, nystagmus, surgical method, and secondary cataract were evaluated.RESULTS: Factors significantly associated with the development of strabismus included age at cataract surgery (≤1y, preoperative mean CDVA ≤20/100, presence of nystagmus in the bilateral cataract group and postoperative interocular CDVA difference >20/70 in the unilateral group. Postoperative CDVA ≤20/100 and preservation of posterior capsule, and presence of secondary cataract were significant factors in both groups.CONCLUSION: Children with congenital cataracts should be monitored carefully after cataract surgery for the development of strabismus, especially when they underwent surgery at age ≤1y, and they have nystagmus, large postoperative interocular CDVA difference, poor preoperative and postoperative CDVA, preservation of the posterior capsule, or secondary cataract.

  11. Mapping X-linked ophthalmic diseases. IV. Provisional assignment of the locus for X-linked congenital cataracts and microcornea (the Nance-Horan syndrome) to Xp22.2-p22.3.

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    Lewis, R A; Nussbaum, R L; Stambolian, D

    1990-01-01

    The Nance-Horan syndrome (NHS) is an infrequent X-linked disorder typified by dense congenital central cataracts, microcornea, anteverted and simplex pinnae, brachymetacarpalia, and numerous dental anomalies. The regional location of the genetic mutation causing NHS is unknown. The authors applied the modern molecular techniques of analysis of restriction fragment length polymorphisms to five multigenerational kindreds in which NHS segregated. Provisional linkage is established to two DNA markers--DXS143 at Xp22.3-p22.2 and DXS43 at Xp22.2. Regional localization of NHS will provide potential antenatal diagnosis in families at risk for the disease and will enhance understanding of the multifaceted genetic defects.

  12. Simultaneous versus Sequential Bilateral Cataract Surgery for Infants with Congenital Cataracts: Visual Outcomes and Economic Costs

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    Dave, Hreem; Phoenix, Vidya; Becker, Edmund R.; Lambert, Scott R.

    2015-01-01

    OBJECTIVES To compare the incidence of adverse events, visual outcomes and economic costs of sequential versus simultaneous bilateral cataract surgery for infants with congenital cataracts. METHODS We retrospectively reviewed the incidence of adverse events, visual outcomes and medical payments associated with simultaneous versus sequential bilateral cataract surgery for infants with congenital cataracts who underwent cataract surgery when 6 months of age or younger at our institution. RESULTS Records were available for 10 children who underwent sequential surgery at a mean age of 49 days for the first eye and 17 children who underwent simultaneous surgery at a mean age of 68 days (p=.25). We found a similar incidence of adverse events between the two treatment groups. Intraoperative or postoperative complications occurred in 14 eyes. The most common postoperative complication was glaucoma. No eyes developed endophthalmitis. The mean absolute interocular difference in logMAR visual acuities between the two treatment groups was 0.47±0.76 for the sequential group and 0.44±0.40 for the simultaneous group (p=.92). Hospital, drugs, supplies and professional payments were on average 21.9% lower per patient in the simultaneous group. CONCLUSIONS Simultaneous bilateral cataract surgery for infants with congenital cataracts was associated with a 21.9% reduction in medical payments and no discernible difference in the incidence of adverse events or visual outcome. PMID:20697007

  13. Congenital cataracts in two siblings with Wolfram syndrome.

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    Mets, Rebecca B; Emery, Sarah B; Lesperance, Marci M; Mets, Marilyn B

    2010-12-01

    Wolfram syndrome is characterized by optic atrophy, insulin dependent diabetes mellitus, diabetes insipidus and deafness. There are several other associated conditions reported in the literature, but congenital or early childhood cataracts are not among them. Observational case series with confirmatory genetic analysis. A pair of siblings, followed over 17 years, who manifest congenital or early childhood cataracts, diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. They are both compound heterozygotes for mutations (V415 deletion and A684V substitution) in the WFS1 gene. Their father has congenital sensorineural hearing loss and developed optic atrophy. He is heterozygous for A684V in WFS1. Wolfram syndrome should be in the differential diagnosis of genetic syndromes associated with congenital and early childhood cataracts. Here, we report on a mother who is a phenotypically normal carrier of an autosomal recessive Wolfram syndrome gene, and a father who has some of the findings of the syndrome and carries a single mutation that appears to be responsible for his hearing loss and optic atrophy. Their 2 children are compound heterozygotes and manifest the full Wolfram syndrome, in addition to cataracts.

  14. Unilateral Congenital Cataract: Clinical Profile and Presentation.

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    Khokhar, Sudarshan; Jose, Cijin P; Sihota, Ramanjit; Midha, Neha

    2018-03-01

    To study the clinical profile and presentation of children with unilateral cataract. In this hospital-based, observational, cross-sectional study, patients 15 years of age or younger who presented with unilateral cataract were recruited. Cases of cataract secondary to causes such as trauma or uveitis were excluded. Age at detection and presentation, distance from the treatment center, presenting complaints, cataract morphology, and biometry were noted for each case. A total of 76 patients were recruited. Most patients presented with complaints of leukocoria. Persistent fetal vasculature accounted for 27.6% of cases and was the most common identifiable cause of cataract in this study. Subsequently, patients were divided into two groups: no persistent fetal vasculature (control) and persistent fetal vasculature. A male predominance was noted in both groups. The mean age at detection was 27.58 ± 37.02 and 6.17 ± 8.42 months and the mean age at presentation was 55.613 ± 45.21 and 14.83 ± 17.75 months in the control and persistent fetal vasculature groups, respectively. In the persistent fetal vasculature group, a significant difference was noted in the axial length, keratometry, and corneal diameter between the affected and normal eyes (P = .027, .00176, and .0114, respectively). In the control group, this difference was observed only in keratometry readings (P = .0464). The mean distance traveled by patients to reach the treatment center was 211 km. Persistent fetal vasculature is an important and less identified cause of unilateral cataract. A significant delay is noted in the detection and presentation of unilateral cataract. [J Pediatr Ophthalmol Strabismus. 2018;55(2):107-112.]. Copyright 2017, SLACK Incorporated.

  15. Mal de meleda with congenital cataract: A novel case report

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    Anisha Sethi

    2015-01-01

    Full Text Available Mal de meleda (MdM, a rare autosomal recessive genodermatosis is characterized by erythema and hyperkeratosis of the palms and soles with a sharp demarcation and that progress with age (progrediens and extend to the dorsal aspects of the hands and feet (transgrediens. It has been associated with various conditions albeit rarely with congenial cataract. Ocular lens and the skin have the same embryological origins. We hereby present this novel case report of Mal de meleda in association with congenital posterior subcapsular cataract which to the best of our knowledge has not been reported from India before.

  16. Prognostic importance of congenital cataract morphology: A case report

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    Çağrı İlhan

    2018-02-01

    Full Text Available Congenital cataract (CC has an important place in pediatric ocular diseases. CCs are different from senile nuclear cataracts in terms of their etiologic, clinic and morphological characteristics. CCs occur many different forms such as non-hereditary isolated cases or autosomal dominant bilateral cases. In addition, many of ocular and systemic diseases can be associated with CC and ophthalmologist should be aware of these potential risks. In this article, we questioned whether the different morphological features of CC have prognostic importance or effect decision of surgery by considering a case of CC.

  17. The Gender Issue in Congenital and Developmental Cataract Surgery

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    Marzieh Katibeh

    2013-01-01

    Full Text Available Purpose: To describe the demographic pattern of congenital cataract surgery at a referral ophthalmology center in Iran and to evaluate any possible difference between the genders. Methods: Subjects aged 15 years or less scheduled for cataract surgery were enrolled in this cross-sectional study. Data was retrieved from the electronic medical records according to the ICD-10 coding system. Age and proportion of operations by sex were the main parameters of interest. We employed analysis of covariance to compare age at surgery and logistic regression to obtain the trend for the number of cataract procedures in boys and girls. Results: Overall, 314 congenital cataract procedures were performed during the study period, 55 (17.5% of which were related to second eye surgery. Operated eyes belonged to male subjects in 172 (54.8% cases and female subjects in 142 (45.2% cases. Mean age at operation for both first and second eyes was 3.2±3.0 years overall, and 3.1±2.9 versus 3.4±3.0 years in girls and boys, respectively (P= 0.62. Surgery was performed before one year of age in 33.2% and before 5 years in 75% of cases. Among patients undergoing second eye surgery, girls presented significantly later than boys (at 4.2±3.3 vs. 2.6±1.7 years, P= 0.012. Conclusion: The rate of congenital/infantile cataract surgery in boys was almost 10% higher than girls. We observed a significant difference only regarding age at second eye surgery which comprised 17.5% of all operations. One third and two thirds of the procedures were performed under the age of one and five years, respectively.

  18. Biometry and clinical characteristics of congenital cataracts and microphthalmia in the Miniature Schnauzer.

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    Gelatt, K N; Samuelson, D A; Barrie, K P; Das, N D; Wolf, E D; Bauer, J E; Andresen, T L

    1983-07-01

    Forty-two Miniature Schnauzer pups and adults with congenital cataracts and microphthalmia were evaluated by serial ophthalmic examinations, slit lamp biomicroscopic photography, and A-scan ultrasonography. The cataracts were evident when the eyelids opened at 2 weeks, affecting predominantly the lens nucleus and posterior cortex. Lenticonus was evident in 19% of the cataractous lenses. Progression of the cataracts was variable and related to involvement of the equatorial and posterior cortices. Lens-induced uveitis developed in some adult dogs with advanced hypermature cataracts. The globe and lens were smaller than normal in the cataractous eyes, as ascertained by A-scan ultrasonography. Age-matched comparisons of clear lens carrier Miniature Schnauzers and normal Beagles with the cataractous Miniature Schnauzers indicated affected globes and cataractous lenses were reduced 10% to 20% in their anteroposterior lengths. The microphthalmia appeared related to the congenital microphakic cataract.

  19. Rodent models of congenital and hereditary cataract in man.

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    Tripathi, B J; Tripathi, R C; Borisuth, N S; Dhaliwal, R; Dhaliwal, D

    1991-01-01

    Because the organogenesis and physiology of the lens are essentially similar in various mammals, an understanding of the etiology and pathogenesis of the formation of cataract in an animal model will enhance our knowledge of cataractogenesis in man. In this review, we summarize the background, etiology, and pathogenesis of cataracts that occur in rodents. The main advantages of using rodent mutants include the well-researched genetics of the animals and the comparative ease of breeding of large litters. Numerous rodent models of congenital and hereditary cataracts have been studied extensively. In mice, the models include the Cts strain, Fraser mouse, lens opacity gene (Lop) strain, Lop-2 and Lop-3 strains, Philly mouse, Nakano mouse, Nop strain, Deer mouse, Emory mouse, Swiss Webster strain, Balb/c-nct/nct mouse, and SAM-R/3 strain. The rat models include BUdR, ICR, Sprague-Dawley, and Wistar rats, the spontaneously hypertensive rat (SHR), the John Rapp inbred strain of Dahl salt-sensitive rat, as well as WBN/Kob, Royal College of Surgeons (RCS), and Brown-Norway rats. Other proposed models for the study of hereditary cataract include the degu and the guinea pig. Because of the ease of making clinical observations in vivo and the subsequent availability of the intact lens for laboratory analyses at different stages of cataract formation, these animals provide excellent models for clinicopathologic correlations, for monitoring of the natural history of the aging process and of metabolic defects, as well as for investigations on the effect of cataract-modulating agents and drugs, including the prospect of gene therapy.

  20. The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46

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    Hansen, Lars; Yao, Wenliang; Eiberg, Hans

    2006-01-01

    "Ant-egg" cataract is a rare, distinct variety of congenital/infantile cataract that was reported in a large Danish family in 1967. This cataract phenotype is characterized by ant-egg-like bodies embedded in the lens in a laminar configuration and is inherited as an autosomal dominant trait. We r...

  1. Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.

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    Xiaodong Jiao

    Full Text Available This study was initiated to identify causal mutations responsible for autosomal recessive congenital cataracts in consanguineous familial cases.Affected individuals underwent a detailed ophthalmological and clinical examination, and slit-lamp photographs were ascertained for affected individuals who have not yet been operated for the removal of the cataractous lens. Blood samples were obtained, and genomic DNA was extracted from white blood cells. A genome-wide scan was completed with short tandem repeat (STR markers, and the logarithm of odds (LOD scores were calculated. Protein coding exons of CRYAB were sequenced, bi-directionally. Evolutionary conservation was investigated by aligning CRYAB orthologues, and the expression of Cryab in embryonic and postnatal mice lens was investigated with TaqMan probe.The clinical and ophthalmological examinations suggested that all affected individuals had nuclear cataracts. Genome-wide linkage analysis suggested a potential region on chromosome 11q23 harboring CRYAB. DNA sequencing identified a missense variation: c.34C>T (p.R12C in CRYAB that segregated with the disease phenotype in the family. Subsequent interrogation of our entire cohort of familial cases identified a second familial case localized to chromosome 11q23 harboring a c.31C>T (p.R11C mutation. In silico analyses suggested that the mutations identified in familial cases, p.R11C and p.R12C will not be tolerated by the three-dimensional structure of CRYAB. Real-time PCR analysis identified the expression of Cryab in mouse lens as early as embryonic day 15 (E15 that increased significantly until postnatal day 6 (P6 with steady level of expression thereafter.Here, we report two novel missense mutations, p.R11C and p.R12C, in CRYAB associated with autosomal recessive congenital nuclear cataracts.

  2. Monocular oral reading after treatment of dense congenital unilateral cataract

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    Birch, Eileen E.; Cheng, Christina; Christina, V; Stager, David R.

    2010-01-01

    Background Good long-term visual acuity outcomes for children with dense congenital unilateral cataracts have been reported following early surgery and good compliance with postoperative amblyopia therapy. However, treated eyes rarely achieve normal visual acuity and there has been no formal evaluation of the utility of the treated eye for reading. Methods Eighteen children previously treated for dense congenital unilateral cataract were tested monocularly with the Gray Oral Reading Test, 4th edition (GORT-4) at 7 to 13 years of age using two passages for each eye, one at grade level and one at +1 above grade level. In addition, right eyes of 55 normal children age 7 to 13 served as a control group. The GORT-4 assesses reading rate, accuracy, fluency, and comprehension. Results Visual acuity of treated eyes ranged from 0.1 to 2.0 logMAR and of fellow eyes from −0.1 to 0.2 logMAR. Treated eyes scored significantly lower than fellow and normal control eyes on all scales at grade level and at +1 above grade level. Monocular reading rate, accuracy, fluency, and comprehension were correlated with visual acuity of treated eyes (rs = −0.575 to −0.875, p < 0.005). Treated eyes with 0.1-0.3 logMAR visual acuity did not differ from fellow or normal control eyes in rate, accuracy, fluency, or comprehension when reading at grade level or at +1 above grade level. Fellow eyes did not differ from normal controls on any reading scale. Conclusions Excellent visual acuity outcomes following treatment of dense congenital unilateral cataracts are associated with normal reading ability of the treated eye in school-age children. PMID:20603057

  3. Incidence of environmental and genetic factors causing congenital cataract in Children of Lahore.

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    Naz, Shagufta; Sharif, Saima; Badar, Hafsa; Rashid, Farzana; Kaleem, Afshan; Iqtedar, Mehwish

    2016-07-01

    To check the incidence of environmental and genetic factors causing congenital cataract in infants. The descriptive study was conducted at Layton Rahmatullah Benevolent Trust, Lahore, Pakistan, from October 2013 to April 2014, and comprised children under 15 years of age who had rubella syndrome, herpes simplex, birth trauma, trisomy 21, Nance-Horan syndrome or Lowe's syndrome. Of the 38,000 cases examined, 120(0.3%) patients were diagnosed with congenital cataract. Of them, 52(43.33%)were aged between 2 and 5 years,22(18.33%) <11 years and 10(8.33%) ?15 years. Bilateral congenital cataract was observed in 91(75.83%) patients and unilateral congenital cataract in 29(24.17%). Environmental factors caused 72(62.07%) cases and genetic factors caused 44(37.93%).. Congenital cataract predominated in boys compared to girls. Early diagnosis and adequate therapy requires specific technology, as well as long-term and permanent care..

  4. Simultaneous vs sequential bilateral cataract surgery for infants with congenital cataracts: Visual outcomes, adverse events, and economic costs.

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    Dave, Hreem; Phoenix, Vidya; Becker, Edmund R; Lambert, Scott R

    2010-08-01

    To compare the incidence of adverse events and visual outcomes and to compare the economic costs of sequential vs simultaneous bilateral cataract surgery for infants with congenital cataracts. Retrospective review of simultaneous vs sequential bilateral cataract surgery for infants with congenital cataracts who underwent cataract surgery when 6 months or younger at our institution. Records were available for 10 children who underwent sequential surgery at a mean age of 49 days for the first eye and 17 children who underwent simultaneous surgery at a mean age of 68 days (P = .25). We found a similar incidence of adverse events between the 2 treatment groups. Intraoperative or postoperative complications occurred in 14 eyes. The most common postoperative complication was glaucoma. No eyes developed endophthalmitis. The mean (SD) absolute interocular difference in logMAR visual acuities between the 2 treatment groups was 0.47 (0.76) for the sequential group and 0.44 (0.40) for the simultaneous group (P = .92). Payments for the hospital, drugs, supplies, and professional services were on average 21.9% lower per patient in the simultaneous group. Simultaneous bilateral cataract surgery for infants with congenital cataracts is associated with a 21.9% reduction in medical payments and no discernible difference in the incidence of adverse events or visual outcomes. However, our small sample size limits our ability to make meaningful comparisons of the relative risks and visual benefits of the 2 procedures.

  5. A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese family.

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    Yao, Ke; Wang, Wei; Zhu, Yanan; Jin, Chongfei; Shentu, Xingchao; Jiang, Jin; Zhang, Yidong; Ni, Shuang

    2011-12-01

    Congenital cataract (CC) is the leading cause of visual disability in children. To date, mutations in many genes have been linked to CC. In a four-generation Chinese family with congenital nuclear pulverulent and posterior polar cataracts, we detected a heterozygous c.5G>A transition in the second exon of GJA3, resulting in the substitution of a highly conserved glycine with aspartic acid (p.G2D) at the N-terminus of the connexin46 (Cx46) protein. Wild type (wt) and mutant Cx46 plasmids were transfected into HeLa cells to examine the molecular basis of cataract formation. Unlike wt Cx46, Cx46G2D mutant formed gap junction plaques inefficiently, changed hemichannel permeability, and caused apoptosis. These results suggest that the glycine residue at the second position of the N-terminus is important for gap junction plaque formation and hemichannel function. © 2011 Wiley Periodicals, Inc.

  6. Cataract Surgery with Foldable Single Piece IOLs in Congenital Cataract-Microcornea Syndrome

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    Niphon Chirapapaisan, M.D.

    2017-11-01

    Full Text Available Objective: To present the visual outcomes and intraocular lens (IOLs stability after cataract surgery with foldable single piece IOLs in a patient with congenital cataract-microcornea syndrome (CCMC. Case presentation: A 28-year-old woman presented with bilateral microcornea and posterior polar cataract. Her uncorrected (UDVA and corrected (CDVA distance visual acuities were 20/100, 20/160 and 20/80, 20/80, respectively. The horizontal cornea diameter was 9.0 mm in both eyes. Anterior chamber angle assessment (ACAA with Scheie classification showed grade 3 on the superior, inferior, and temporal site and grade 2 on the nasal site in both eyes. On ultrasound biomicroscopy (UBM, the anterior chamber depths were 2.35 mm. OD and 2.41 mm. OS. The axial lengths were 23.28 mm., OD and 22.50 mm. OS with the A-scan ultrasound biometry. The IOLs power calculation with SRK/T formulas was +25.00 diopter OD and +22.50 diopter OS (A-constant 118.4. Phacoemulsification was performed on both eyes. After lens aspiration, ruptured posterior capsule, a common complication occurred. Then anterior vitrectomy was performed. A foldable single piece IOLs without haptic trimming was implanted in the sulcus in each eye. CDVA was 20/63 equally in both eyes. The intraocular pressure was 12 and 14 mmHg. ACAA showed grade 2 and no pigment dispersion. The IOLs had no tilt or decentration. UBM showed the IOLs were in the proper position and were not rubbing the iris. Conclusion: The foldable single piece IOLs without haptic trimming in the sulcus were safely implanted in both eyes with microcornea in CCMC.

  7. Primary versus secondary intraocular lens implantation in the management of congenital cataract

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    Thanaa H Mohamed

    2016-01-01

    Conclusion Primary IOL implantation was found to be safe and effective in the management of congenital cataract; it leads to lower incidence of complications and better visual outcomes compared with aphakia and secondary IOL implantation.

  8. Adams-Oliver syndrome associated with cutis marmorata telangiectatica congenita and congenital cataract: a case report.

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    Fayol, Laurence; Garcia, Patricia; Denis, Danièle; Philip, Nicole; Simeoni, Umberto

    2006-04-01

    A female infant presented with Adams-Oliver syndrome (AOS), intrauterine growth retardation, severe cutis marmorata telangiectatica congenita, bilateral congenital cataract, and periventricular lesions. The here-reported association of bilateral congenital cataract with AOS is original. Adams-Oliver syndrome is a genetic defect that causes a vasculopathy and leads to a variety of phenotypes. This observation further supports the current understanding of the physiopathology of AOS.

  9. Different alpha crystallin expression in human age-related and congenital cataract lens epithelium.

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    Yang, Jing; Zhou, Sheng; Guo, Minfei; Li, Yuting; Gu, Jianjun

    2016-05-28

    The purpose of this study was to investigate the different expressions of αA-crystallin and αB-crystallin in human lens epithelium of age-related and congenital cataracts. The central part of the human anterior lens capsule approximately 5 mm in diameter together with the adhering epithelial cells, were harvested and processed within 6 hours after cataract surgery from age-related and congenital cataract patients or from normal eyes of fresh cadavers. The mRNA and soluble protein levels of αA-crystallin and αB-crystallin in the human lens epithelium were detected by real-time PCR and western blots, respectively. The mRNA and soluble protein expressions of αA-crystallin and αB-crystallin in the lens epithelium were both reduced in age-related and congenital cataract groups when compared with the normal control group. However, the degree of α-crystallin loss in the lens epithelium was highly correlated with different cataract types. The α-crystallin expression of the lens epithelium was greatly reduced in the congenital cataract group but only moderately decreased in the age-related cataract group. The reduction of αA-crystallin soluble protein levels in the congenital cataract group was approximately 2.4 fold decrease compared with that of the age-related cataract group, while an mRNA fold change of 1.67 decrease was observed for the age-related cataract group. Similarly, the reduction of soluble protein levels of αB-crystallin in the congenital cataract group was approximately a 1.57 fold change compared with that of the age-related cataract group. A 1.75 fold change for mRNA levels compared with that of the age-related cataract group was observed. The results suggest that the differential loss of α-crystallin in the human lens epithelium could be associated with the different mechanisms of cataractogenesis in age-related versus congenital cataracts, subsequently resulting in different clinical presentations.

  10. Cataracts

    Science.gov (United States)

    ... Oncology Oculoplastics/Orbit Refractive Management/Intervention Retina/Vitreous Uveitis Focus On Pediatric Ophthalmology ... Are Cataracts? Pediatric Cataracts Cataract Diagnosis and Treatment Cataract Surgery IOL Implants: Lens Replacement After Cataracts ...

  11. X-linked cataract and Nance-Horan syndrome are allelic disorders.

    Science.gov (United States)

    Coccia, Margherita; Brooks, Simon P; Webb, Tom R; Christodoulou, Katja; Wozniak, Izabella O; Murday, Victoria; Balicki, Martha; Yee, Harris A; Wangensteen, Teresia; Riise, Ruth; Saggar, Anand K; Park, Soo-Mi; Kanuga, Naheed; Francis, Peter J; Maher, Eamonn R; Moore, Anthony T; Russell-Eggitt, Isabelle M; Hardcastle, Alison J

    2009-07-15

    Nance-Horan syndrome (NHS) is an X-linked developmental disorder characterized by congenital cataract, dental anomalies, facial dysmorphism and, in some cases, mental retardation. Protein truncation mutations in a novel gene (NHS) have been identified in patients with this syndrome. We previously mapped X-linked congenital cataract (CXN) in one family to an interval on chromosome Xp22.13 which encompasses the NHS locus; however, no mutations were identified in the NHS gene. In this study, we show that NHS and X-linked cataract are allelic diseases. Two CXN families, which were negative for mutations in the NHS gene, were further analysed using array comparative genomic hybridization. CXN was found to be caused by novel copy number variations: a complex duplication-triplication re-arrangement and an intragenic deletion, predicted to result in altered transcriptional regulation of the NHS gene. Furthermore, we also describe the clinical and molecular analysis of seven families diagnosed with NHS, identifying four novel protein truncation mutations and a novel large deletion encompassing the majority of the NHS gene, all leading to no functional protein. We therefore show that different mechanisms, aberrant transcription of the NHS gene or no functional NHS protein, lead to different diseases. Our data highlight the importance of copy number variation and non-recurrent re-arrangements leading to different severity of disease and describe the potential mechanisms involved.

  12. Advances in visual correction and postoperative visual treatment of congenital cataract

    Directory of Open Access Journals (Sweden)

    Lin Mei

    2014-04-01

    Full Text Available Congenital cataract is one of the important diseases that cause irreversible visual impairment on children. Compared with adult cataract, the surgery of congenital cataract is more complicated and the complications are more severer, especially the postoperative amblyopia often leads to bad prognosis. Therefore, the postoperative treatment is necessary to obtain the better visual outcome. The traditional visual correction methods after surgery include the combined use of spectacles, contact lens, and intraocular lens(IOL, but some problems such as IOL power calculation and IOL implantation time are still controversial. Besides, occlusion therapy and visual training are also essential for preventing amblyopia after cataract surgery. Occlusion in an appropriate dose and course must be mastered, accompanied by visual training. Both of the operative eyes and normal eyes will be able to achieve much better visual acuity and color sensitivity, so that the binocular vision can recover and develop as normal function.

  13. Long term outcomes of bilateral congenital and developmental cataracts operated in Maharashtra, India. Miraj pediatric cataract study III

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    Parikshit M Gogate

    2014-01-01

    Full Text Available Aim : To study long term outcome of bilateral congenital and developmental cataract surgery. Subjects: 258 pediatric cataract operated eyes of 129 children. Materials and Methods: Children who underwent pediatric cataract surgery in 2004-8 were traced and examined prospectively in 2010-11. Demographic and clinical factors were noted from retrospective chart readings. All children underwent visual acuity estimation and comprehensive ocular examination in a standardized manner. L. V. Prasad Child Vision Function scores (LVP-CVF were noted for before and after surgery. Statistics: Statistical analysis was done with SPSS version 16 including multi-variate analysis. Results: Children aged 9.1 years (std dev 4.6, range 7 weeks-15 years at the time of surgery. 74/129 (57.4% were boys. The average duration of follow-up was 4.4 years (stddev 1.6, range 3-8 years. 177 (68.6% eyes had vision 6/18 and 157 (60.9% had BCVA >6/60 3-8 years after surgery. 48 (37.2% had binocular stereoacuity <480 sec of arc by TNO test. Visual outcome depended on type of cataract (P = 0.004, type of cataract surgery (P < 0.001, type of intra-ocular lens (P = 0.05, age at surgery (P = 0.004, absence of post-operative uveitis (P = 0.01 and pre-operative vision (P < 0.001, but did not depend on delay (0.612 between diagnosis and surgery. There was a statistically significant improvement for all the 20 questions of the LVP-CVF scale (P < 0.001. Conclusion : Pediatric cataract surgery improved the children′s visual acuity, stereo acuity and vision function. Developmental cataract, use of phacoemulsification, older children and those with better pre-operative vision had betterlong-termoutcomes.

  14. The Indication of Surgical Treatment and Visual Rehabilitation in the Congenital Cataracts

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    Uğur Keklikçi

    2005-01-01

    Full Text Available Congenital cataracts constitute an important part of blindness in childhood. It’s a curable disease which is one of the most common causes of blindness in childhood. Main treatment is surgical operation. Timing of surgery, appropriate and rapid post sur- gery visual rehabilitation have a major effect on prognosis. Surgery should be perfor-med as soon as possible after the diagnosis in order to prevent amblyopia.Visual rehabi- litation of congenital cataract includes optical correction and amblyopia treatment. The most effective treatment of amblyopia is occlusion therapy. In this article congenital cataracts were evaluated in the light of recent literature and the importance of the timing of surgery and visual rehabilitation were attempted to be emphasized.

  15. Ant-egg cataract. A study of a family with dominantly inherited congenital (ant-egg) cataract, including a histological examination of the formed elements

    DEFF Research Database (Denmark)

    Nissen, Steffen; Schrøder, H D

    1979-01-01

    A family with "ant-egg" cataract in three generations is described. The cataract is congenital, probably of autosomal dominant inheritance. Light microscopy of the ant-eggs showed that they are made up of a peripheral zone of lens material and a large almost homogenous centre. Element analysis by......-ray spectrophotometry showed a high content of calcium and phosphorus in the centre. The cataract has been easy to operate on and the postoperative visual results have been good....

  16. VISUAL OUTCOME IN CONGENITAL RUBELLA CATARACT MANAGED IN A TERTIARY EYE CARE CENTRE

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    Chitra S

    2016-12-01

    Full Text Available BACKGROUND The aim of the study is to analyse the visual outcome in congenital rubella cataract. MATERIALS AND METHODS It is an analytical prospective study. RESULTS Defective vision and white reflex were the most common presenting complaint. Most of the patients were positive for IgG only in high titres. Comparing the visual acuity preoperatively and postoperatively, there was statistically significant improvement in vision. CONCLUSION Children with congenital rubella cataract should be operated as early as possible under topical antibiotics coverage. Postoperative should be properly treated with intensive cycloplegics and topical steroids. Proper follow up and visual rehabilitation should be done.

  17. Further evidence for P59L mutation in GJA3 associated with autosomal dominant congenital cataract

    Directory of Open Access Journals (Sweden)

    Li Wang

    2016-01-01

    Full Text Available Context: Congenital cataracts are one of the common eye disorders leading to visual impairment or blindness in children worldwide. We found a Chinese family with autosomal dominant pulverulent cataract. Aims: To identify the pathogenic gene mutation in a Chinese family with autosomal dominant inherited pulverulent cataract. Subjects and Methods: After obtained informed consent, detailed ophthalmic examinations were carried out; genomic DNAs were obtained from seven family members in a three-generation Chinese family with three affected. All exons of candidate genes were amplified by polymerase chain reaction and were sequenced performed by bidirectional sequencing. Results: By sequencing the encoding regions of the candidate genes, a missense mutation (c. 176C>T was detected in gap junction protein alpha 3 genes (GJA3, which resulted in the substitution of highly conserved proline by leucine at codon 59 (p.P59L. The mutation co-segregated with all patients and was absent in 100 normal Chinese controls. Conclusions: The study identified a missense mutation (c. 176C>T in GJA3 gene associated with autosomal dominant congenital pulverulent cataract in a Chinese family. It gave further evidence of phenotype heterogeneity for P59L mutation in GJA3 associated with congenital cataract.

  18. A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family.

    Science.gov (United States)

    Zhuang, Xiaotong; Wang, Lianqing; Song, Zixun; Xiao, Wei

    2015-01-01

    To investigate a novel insertion variant of CRYGD identified in a Chinese family with nuclear congenital cataract. A Chinese family with congenital nuclear cataract was recruited for the mutational screening of candidate genes by direct sequencing. Recombinant N-terminal Myc tagged wildtype or mutant CRYGD was expressed in HEK293T cells. The expression pattern, protein solubility and subcellular distribution were analyzed by western blotting and immunofluorescence. A novel insertion variant, c.451_452insGACT, in CRYGD was identified in the patients. It causes a frameshift and a premature termination of the polypeptide to become Y151*. A significantly reduced solubility was observed for this mutant. Unlike wildtype CRYGD, which existed mainly in the cytoplasm, Y151* was mis-located in the nucleus. We have identified a novel mutation, c.451_452insGACT, in CRYGD, which is associated with nuclear cataract. This is the first insertion mutation of CRYGD found to cause autosomal dominant congenital cataract. The mutant protein, with loss of solubility and localization to the nucleus, is hypothesized to be the major cause of cataract in these patients.

  19. A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family.

    Science.gov (United States)

    Wang, Kai Jie; Li, Sha Sha; Yun, Bo; Ma, Wen Xian; Jiang, Tian Ge; Zhu, Si Quan

    2011-01-08

    To identify the underlying genetic defect in a Chinese family affected with autosomal dominant congenital nuclear cataract. A four-generation Chinese family with inherited nuclear cataract phenotype was recruited. Detailed family history and clinical data were recorded. All reported nuclear cataract-related candidate genes were screened for causative mutations by direct DNA sequencing. Effects of amino acid changes on the structure and function of protein were predicted by bioinformatics analysis. All affected individuals in this family showed nuclear cataracts. Sequencing of the candidate genes revealed a heterozygous c.559C>T change in the coding region of the major intrinsic protein (MIP), which caused a substitution of highly conserved arginine by cysteine at codon 187 (p.R187C). This mutation co-segregated with all affected individuals and was not observed in unaffected family members or 110 ethnically matched controls. Bioinformatics analysis showed that the mutation was predicted to affect the function and secondary structure of MIP protein. This study identified a novel disease-causing mutation p.R187C in MIP in a Chinese cataract family, expanding the mutation spectrum of MIP causing congenital cataract.

  20. Anesthetic dilemma in planning bilateral cataract surgery for an infant associated with congenital cardiac anomaly

    Directory of Open Access Journals (Sweden)

    Devalina Goswami

    2015-01-01

    Full Text Available In a patient with tetralogy of Fallot (TOF and pulmonary atresia, treating the cardiac problem or the associated congenital illness is always a challenge. We describe the challenges and successful initial management of bilateral cataract to prevent visual loss in an infant with TOF with pulmonary atresia.

  1. Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder

    NARCIS (Netherlands)

    Rossi, A.; Biancheri, R.; Zara, F.; Bruno, C.; Uziel, G.; van der Knaap, M.S.; Minetti, C.; Tortori-Donati, P.

    2008-01-01

    BACKGROUND AND PURPOSE: Hypomyelination and congenital cataract (HCC) is an autosomal recessive white matter disease caused by deficiency of hyccin, a membrane protein implicated in both central and peripheral myelination. We aimed to describe the neuroimaging features of this novel entity.

  2. Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract

    DEFF Research Database (Denmark)

    Hansen, Lars; Mikkelsen, Annemette; Nürnberg, Peter

    2009-01-01

    , and a gene conversion is the most likely mutational event causing this variant. Ten families had microcornea cataract, and a mutation was identified in eight of those. Most families displayed mixed phenotypes with nuclear, lamellar, and polar opacities and no apparent genotype-phenotype correlation emerged......PURPOSE: Identification of the causal mutations in 28 unrelated families and individuals with hereditary congenital cataract identified from a national Danish register of hereditary eye diseases. Seven families have been published previously, and the data of the remaining 21 families are presented...... together with an overview of the results in all families. METHODS: A combined screening approach of linkage analysis and sequencing of 17 cataract genes were applied to mutation analyses of total 28 families. RESULTS: The study revealed a disease locus in seven of eight families that were amenable...

  3. A novel mutation in CRYAB associated with autosomal dominant congenital nuclear cataract in a Chinese family.

    Science.gov (United States)

    Chen, Qiang; Ma, Junjie; Yan, Ming; Mothobi, Maneo Emily; Liu, Yuanyuan; Zheng, Fang

    2009-07-10

    To identify the genetic defects associated with autosomal dominant congenital nuclear cataract in a Chinese family. Clinical data were collected, and the phenotypes of the affected members in this family were recorded by slit-lamp photography. Genomic DNA was isolated from peripheral blood. Mutations were screened in cataract-associated candidate genes through polymerase chain reaction (PCR) analyses and sequencing. Structural models of the wild-type and mutant alphaB-crystallin were generated and analyzed by SWISS-MODEL. Mutation screening identified only one heterozygous G-->A transition at nucleotide 32 in the first exon of alphaB-crystallin (CRYAB), resulting in an amino acid change from arginine to histidine at codon 11 (R11H). This mutation segregated in all available affected family members but was not observed in any of the unaffected persons of the family. The putative mutation disrupted a restriction site for the enzyme, Fnu4HI, in the affected family members. The disruption, however, was not found in any of the randomly selected ophthalmologically normal individuals or in 40 unrelated senile cataract patients. Computer-assisted prediction suggested that this mutation affected the biochemical properties as well as the structure of alphaB-crystallin. These results supported the idea that the novel R11H mutation was responsible for the autosomal dominant nuclear congenital cataract in this pedigree.

  4. Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family.

    Science.gov (United States)

    Reches, Adi; Yaron, Yuval; Burdon, Kathryn; Crystal-Shalit, Ornit; Kidron, Dvora; Malcov, Mira; Tepper, Ron

    2007-07-01

    To describe a family in which it was possible to perform prenatal diagnosis of Nance-Horan Syndrome (NHS). The fetus was evaluated by 2nd trimester ultrasound. The family underwent genetic counseling and ophthalmologic evaluation. The NHS gene was sequenced. Ultrasound demonstrated fetal bilateral congenital cataract. Clinical evaluation revealed other family members with cataract, leading to the diagnosis of NHS in the family. Sequencing confirmed a frameshift mutation (3908del11bp) in the NHS gene. Evaluation of prenatally diagnosed congenital cataract should include a multidisciplinary approach, combining experience and input from sonographer, clinical geneticist, ophthalmologist, and molecular geneticist.

  5. A novel GJA8 mutation (p.V44A causing autosomal dominant congenital cataract.

    Directory of Open Access Journals (Sweden)

    Yanan Zhu

    Full Text Available To examine the mechanism by which a novel connexin 50 (Cx50 mutation, Cx50 V44A, in a Chinese family causes suture-sparing autosomal dominant congenital nuclear cataracts.Family history and clinical data were recorded and direct gene sequencing was used to identify the disease-causing mutation. The Cx50 gene was cloned from a human lens cDNA library. Connexin protein distributions were assessed by fluorescence microscopy. Hemichannel functions were analyzed by dye uptake assay. Formation of functional channels was assessed by dye transfer experiments.Direct sequencing of the candidate GJA8 gene revealed a novel c.131T>C transition in exon 2, which cosegregated with the disease in the family and resulted in the substitution of a valine residue with alanine at codon 44 (p. V44A in the extracellular loop 1 of the Cx50 protein. Both Cx50 and Cx50V44A formed functional gap junctions, as shown by the neurobiotin transfer assay. However, unlike wild-type Cx50, Cx50V44A was unable to form open hemichannels in dye uptake experiments.This work identified a unique congenital cataract in the Chinese population, caused by the novel mutation Cx50V44A, and it showed that the V44A mutation specifically impairs the gating of the hemichannels but not the gap junction channels. The dysfunctional hemichannels resulted in the development of human congenital cataracts.

  6. Anoftalmia associada à catarata congênita: relato de caso Anophthalmia and congenital cataract: case report

    Directory of Open Access Journals (Sweden)

    Alessandro Santana

    2005-06-01

    Full Text Available Apresentação de um caso de anoftalmia e catarata congênita associada a malformações sistêmicas. Paciente, 6 meses, do sexo masculino, com anoftalmia à esquerda e catarata congênita polar posterior à direita. Instituiu-se terapêutica cirúrgica por meio de aspiração do núcleo e córtex com pequena incisão sem implante de lente intra-ocular, e capsulorrexe posterior com vitrectomia. A associação entre anoftalmia e catarata congênita é condição rara em que o diagnóstico e tratamento precoces são fundamentais para adequada reabilitação do paciente.The authors report a case of anophthalmia, congenital cataract and systemic malformations. Male patient, 6 months old, left anophthalmia and congenital posterior polar cataract in the right eye. The patient was treated with manual aspiration of the crystalline lens, with no intraocular lens implantation with primary posterior capsulorhexis and anterior vitrectomy through a small incision. The association of anophthalmia and congenital cataract is rare. The early diagnosis and management in these cases is very important for the best visual rehabilitation.

  7. Autosomal recessive congenital cataract in captive-bred vervet monkeys (Chlorocebus aethiops).

    Science.gov (United States)

    Magwebu, Zandisiwe E; Abdul-Rasool, Sahar; Seier, Jürgen V; Chauke, Chesa G

    2018-04-01

    The aim of the study was to evaluate the genetic predisposition of congenital cataract in a colony of captive-bred vervet monkeys. Four congenital cataract genes: glucosaminyl (N-acetyl) transferase 2 (GCNT2), heat shock transcription factor 4 (HSF4), crystallin alpha A (CRYAA) and lens intrinsic membrane protein-2 (LIM2) were screened, sequenced and analysed for possible genetic variants in 36 monkeys. Gene expression was also evaluated in these genes. Fifteen sequence variants were identified in the coding regions of three genes (GCNT2, HSF4 and CRYAA). Of these variations, only three were missense mutations (M258V, V16I and S24N) and identified in the GCNT2 transcripts A, B and C, respectively, which resulted in a downregulated gene expression. Although the three missense mutations in GCNT2 have a benign effect, a possibility exists that the candidate genes (GCNT2, HSF4 and CRYAA) might harbour mutations that are responsible for total congenital cataract. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  8. Effect of low molecular weight heparin (enoxaparin) on congenital cataract surgery.

    Science.gov (United States)

    Caça, Ihsan; Sahin, Alparslan; Cingü, Abdullah Kürsat; Ari, Seyhmus; Alakuş, Fuat; Cinar, Yasin

    2012-01-01

    To assess the efficacy of intracameral enoxaparin (a low-molecular-weight heparin) infusion, in variable doses on postoperative inflammatory response in congenital cataract surgery. It is a prospective, randomized controlled trial. Eighty eyes of 53 children with congenital cataract were enrolled in this study. Every eye had primary posterior capsulorrhexis and intraocular lens (IOL) implantation after lens aspiration. The eyes were divided into 4 equal groups. In group 1 balanced salt solution (BSS) without enoxaparin was used as an irrigation solution. Whereas in group 2, 3 and 4, 40mg, 20mg and 10mg enoxaparin in 500mL BSS was used respectively. The inflammatory response in the anterior chamber was compared among the groups with slit-lamp biomicroscopy. The mean follow-up period was (17.75±3.95) months in group 1, (18.00±5.15) months in group 2, (19.20±5.47) months in group 3 and (18.65±5.16) months in group 4. Mean number of inflammatory cells in the anterior chamber in group 1 was significantly higher than that of group 2, 3, 4 (P0.05). There were IOL precipitates in 4 eyes of group 1 and 2 eyes of group 4. IOL precipitate formation was significantly higher in group 1 than that of group 2 and 3 in which there was no IOL precipitate (P=0.048). There was IOL subluxation in only one eye of group 1, 3 and 4 while no subluxation was observed in group 2 (P>0.05). There was no statistically significant difference detected about IOL subluxation occurance in all 4 groups (P>0.05). Complications of cataract surgery in congenital cataract patients associated with postoperative inflammatory response found to be decreased with the use of enoxaparin in intraocular infusion solutions. Furthermore according to our results the anti-inflammatory effect of enoxaparin was dose dependant.

  9. Adrenomyeloneuropathy associated with congenital cataract. Report of a family with MRI study

    Energy Technology Data Exchange (ETDEWEB)

    Komori, Tetsuo; Nagashima, Toshiko; Hirose, Kazuhiko; Tanabe, Hitoshi; Tsubaki, Tadao

    1988-05-01

    Two cases of adrenomyeloneuropathy (AMN) in a family and the results of their MRI study are reported. Case 1, a 24-year-old male proband, was admitted to our hospital because of gait disturbance for three years. Bilateral cataracts were pointed out at birth, which required left side lenticotomy at age four. Neurological examinations on admission revealed a marked spastic paraparesis with pathological reflexes and a mild hypesthesia in the distal part of the left leg. No abnormal findings were detected in X-ray studies on the spine and spinal cord, electromyography and nerve conduction test. Serum very long chain fatty acids (VLCFAs) levels were apparently elevated, and the serum cortisol response to ACTH was low. Case 2, a 53-year-old woman, is the mother of Case 1 having a complaint of gait disturbance since age 51. She presented a mild spastic paraparesis with localized hypesthesia in the distal part of the both legs. She also had bilateral congenital cataracts. Her serum VLCFAs analysis indicated the intermediate levels between that of AMN and the normal control. Adrenal functions were normal. Cranial MRI (TR 2,000 msec/TE 80 msec) study disclosed high signal intensity areas in bilateral internal capsules in Case 1. These findings, suggesting the pathological change of dysmyelination, seemed to be well compatible with the clinical pictures. With these clinical findings and the laboratory data, these two cases were diagnosed as AMN. In addition, association of congenital cataract with AMN in both cases was characteristic in this family, which hasn't been reported in the literature. On regarding the genetic background of these two disorders, AMN and congenital cataract, it was speculated that each gene could be closely located on the same or very adjacent locus, possibly on Xq.

  10. Improving diagnosis for congenital cataract by introducing NGS genetic testing.

    Science.gov (United States)

    Musleh, Mohammud; Ashworth, Jane; Black, Graeme; Hall, Georgina

    2016-01-01

    Childhood cataract (CC) has an incidence of 3.5 per 10,000 by age 15 years. Diagnosis of any underlying cause is important to ensure effective and prompt management of multisystem complications, to facilitate accurate genetic counselling and to streamline multidisciplinary care. Next generation sequencing (NGS) has been shown to be effective in providing an underlying diagnosis in 70% of patients with CC in a research setting. This project aimed to integrate NGS testing in CC within six months of presentation and increase the rate of diagnosis. A retrospective case note review was undertaken to define the baseline efficacy of current care in providing a precise diagnosis. Quality improvement methods were used to integrate and optimize NGS testing in clinical care and measure the improvements made. The percentage of children receiving an NGS result within six months increased from 26% to 71% during the project period. The mean time to NGS testing and receiving a report decreased and there was a reduction in variation over the study period. Several patients and families had a change in management or genetic counselling as a direct result of the diagnosis given by the NGS test. The current recommended investigation of patients with bilateral CC is ineffective in identifying a diagnosis. Quality Improvement methods have facilitated successful integration of NGS testing into clinical care, improving time to diagnosis and leading to development of a new care pathway.

  11. Novel human CRYGD rare variant in a Brazilian family with congenital cataract

    Science.gov (United States)

    Giordano, Gabriel Gorgone; Tavares, Anderson; da Silva, Márcio José; de Vasconcellos, José Paulo Cabral; Arieta, Carlos Eduardo Leite; de Melo, Mônica Barbosa

    2011-01-01

    Purpose To describe a novel polymorphism in the γD-crystallin (CRYGD) gene in a Brazilian family with congenital cataract. Methods A Brazilian four-generation family was analyzed. The proband had bilateral lamellar cataract and the phenotypes were classified by slit lamp examination. Genomic DNA was extracted from peripheral blood and coding regions and intron/exon boundaries of the αA-crystallin (CRYAA), γC-crystallin (CRYGC), and CRYGD genes were amplified by polymerase chain reaction and directly sequenced. Results Sequencing of the coding regions of CRYGD showed the presence of a heterozygous A→G transversion at c.401 position, which results in the substitution of a tyrosine to a cysteine (Y134C). The polymorphism was identified in three individuals, two affected and one unaffected. Conclusions A novel rare variant in CRYGD (Y134C) was detected in a Brazilian family with congenital cataract. Because there is no segregation between the substitution and the phenotypes in this family, other genetic alterations are likely to be present. PMID:21866214

  12. A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family.

    Science.gov (United States)

    Yao, Ke; Jin, Chongfei; Zhu, Ning; Wang, Wei; Wu, Renyi; Jiang, Jin; Shentu, Xingchao

    2008-07-09

    To identify the genetic defect associated with autosomal dominant congenital nuclear cataract in a Chinese family. Family history and phenotypic data were recorded, and the phenotypes were documented by slit lamp photography. The genomic DNA was extracted from peripheral blood leukocytes. All the exons and flanking intronic sequences of CRYGC and CRYGD were amplified by polymerase chain reaction (PCR) and screened for mutation by direct DNA sequencing. Structural models of the wild type and mutant gammaC-crystallin were generated and analyzed by SWISS-MODEL. Sequencing of the coding regions of CRYGC and CRYGD showed the presence of a heterozygous C>A transversion at c.327 of the coding sequence in exon 3 of CRYGC (c.327C>A), which results in the substitution of a wild type cysteine to a nonsense codon (C109X). One and a half Greek key motifs at the COOH-terminus were found to be absent in the structural model of the mutant truncated gammaC-crystallin. A novel nonsense mutation in CRYGC was detected in a Chinese family with consistent autosomal dominant congenital nuclear cataract, providing clear evidence of a relationship between the genotype and the corresponding cataract phenotype.

  13. [Importance of occlusion therapy for amblyopia in partial unilateral congenital cataracts that are discovered late].

    Science.gov (United States)

    Denion, E; Dedes, V; Bonne, M; Labalette, P; Berger, C; Guilbert, F; Bouckehove, S; Rouland, J-F

    2004-11-01

    The aim of this study is to investigate the importance of occlusion therapy for amblyopia in patients with partial unilateral congenital cataracts that were discovered after 24 months of age. A retrospective study was conducted on 11 patients, each of whom underwent a clinical examination including a cycloplegic refraction with atropine. The average age when the cataract was diagnosed was 35 months. The average distance visual acuity was 6/78 and the average near visual acuity was 35/175. Occlusion therapy using adhesive patches was started after refractive error correction. In two cases, observance was mediocre. Ametropia was found in every patient, with anisometropia in nine patients (alpha occlusion therapy for amblyopia, the average visual acuity significantly improved to 6/22 in distance vision (alpha Amblyopia is related to lens opacities as well as frequently associated anisometropia. Functional improvement is greater in near vision than in distance vision. With occlusion therapy for amblyopia, accommodation is preserved. This factor is of utmost importance as near vision is preferential in young children. This study provides an opportunity to recall the importance of refraction and occlusion therapy for amblyopia, which must be systematically attempted in cases of partial unilateral congenital cataracts before considering a surgical procedure.

  14. X-linked congenital panhypopituitarism.

    Science.gov (United States)

    Schimke, R N; Spaulding, J J; Hollowell, J G

    1971-05-01

    Two half brothers with panhypopituitary dwarfism are reported who have the same mother and different, unrelated fathers. The subject of hereditary panhypopituitarism is reviewed briefly. It is concluded that there are at least two forms of hereditary panhypopituitary dwarfism, one of which may be X-linked.

  15. Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.

    Science.gov (United States)

    Narumi, Yoko; Nishina, Sachiko; Tokimitsu, Motoharu; Aoki, Yoko; Kosaki, Rika; Wakui, Keiko; Azuma, Noriyuki; Murata, Toshinori; Takada, Fumio; Fukushima, Yoshimitsu; Kosho, Tomoki

    2014-05-01

    Congenital cataracts are the most important cause of severe visual impairment in infants. Genetic factors contribute to the disease development and 29 genes are known to cause congenital cataracts. Identifying the genetic cause of congenital cataracts can be difficult because of genetic heterogeneity. V-maf avian musculoaponeurotic fibrosarcoma oncogene homolog (MAF) encodes a basic region/leucine zipper transcription factor that plays a key role as a regulator of embryonic lens fiber cell development. MAF mutations have been reported to cause juvenile-onset pulverulent cataract, microcornea, iris coloboma, and other anterior segment dysgenesis. We report on six patients in a family who have congenital cataracts were identified MAF mutation by whole exome sequencing (WES). The heterozygous MAF mutation Q303L detected in the present family occurs in a well conserved glutamine residue at the basic region of the DNA-binding domain. All affected members showed congenital cataracts. Three of the six members showed microcornea and one showed iris coloboma. Congenital cataracts with MAF mutation exhibited phenotypically variable cataracts within the family. Review of the patients with MAF mutations supports the notion that congenital cataracts caused by MAF mutations could be accompanied by microcornea and/or iris coloboma. WES is a useful tool for detecting disease-causing mutations in patients with genetically heterogeneous conditions. © 2014 Wiley Periodicals, Inc.

  16. A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts.

    Directory of Open Access Journals (Sweden)

    Xiaodong Jiao

    Full Text Available This study was performed to investigate the genetic determinants of autosomal recessive congenital cataracts in large consanguineous families.Affected individuals underwent a detailed ophthalmological examination and slit-lamp photographs of the cataractous lenses were obtained. An aliquot of blood was collected from all participating family members and genomic DNA was extracted from white blood cells. Initially, a genome-wide scan was performed with genomic DNAs of family PKCC025 followed by exclusion analysis of our familial cohort of congenital cataracts. Protein-coding exons of CRYBB1, CRYBB2, CRYBB3, and CRYBA4 were sequenced bidirectionally. A haplotype was constructed with SNPs flanking the causal mutation for affected individuals in all four families, while the probability that the four familial cases have a common founder was estimated using EM and CHM-based algorithms. The expression of Crybb3 in the developing murine lens was investigated using TaqMan assays.The clinical and ophthalmological examinations suggested that all affected individuals had nuclear cataracts. Genome-wide linkage analysis localized the causal phenotype in family PKCC025 to chromosome 22q with statistically significant two-point logarithm of odds (LOD scores. Subsequently, we localized three additional families, PKCC063, PKCC131, and PKCC168 to chromosome 22q. Bidirectional Sanger sequencing identified a missense variation: c.493G>C (p.Gly165Arg in CRYBB3 that segregated with the disease phenotype in all four familial cases. This variation was not found in ethnically matched control chromosomes, the NHLBI exome variant server, or the 1000 Genomes or dbSNP databases. Interestingly, all four families harbor a unique disease haplotype that strongly suggests a common founder of the causal mutation (p<1.64E-10. We observed expression of Crybb3 in the mouse lens as early as embryonic day 15 (E15, and expression remained relatively steady throughout development.Here, we

  17. Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts.

    Directory of Open Access Journals (Sweden)

    Bushra Irum

    Full Text Available To identify the molecular basis of non-syndromic autosomal recessive congenital cataracts (arCC in a consanguineous family.All family members participating in the study received a comprehensive ophthalmic examination to determine their ocular phenotype and contributed a blood sample, from which genomic DNA was extracted. Available medical records and interviews with the family were used to compile the medical history of the family. The symptomatic history of the individuals exhibiting cataracts was confirmed by slit-lamp biomicroscopy. A genome-wide linkage analysis was performed to localize the disease interval. The candidate gene, LIM2 (lens intrinsic membrane protein 2, was sequenced bi-directionally to identify the disease-causing mutation. The physical changes caused by the mutation were analyzed in silico through homology modeling, mutation and bioinformatic algorithms, and evolutionary conservation databases. The physiological importance of LIM2 to ocular development was assessed in vivo by real-time expression analysis of Lim2 in a mouse model.Ophthalmic examination confirmed the diagnosis of nuclear cataracts in the affected members of the family; the inheritance pattern and cataract development in early infancy indicated arCC. Genome-wide linkage analysis localized the critical interval to chromosome 19q with a two-point logarithm of odds (LOD score of 3.25. Bidirectional sequencing identified a novel missense mutation, c.233G>A (p.G78D in LIM2. This mutation segregated with the disease phenotype and was absent in 192 ethnically matched control chromosomes. In silico analysis predicted lower hydropathicity and hydrophobicity but higher polarity of the mutant LIM2-encoded protein (MP19 compared to the wild-type. Moreover, these analyses predicted that the mutation would disrupt the secondary structure of a transmembrane domain of MP19. The expression of Lim2, which was detected in the mouse lens as early as embryonic day 15 (E15

  18. Identification of a novel locus for a USH3 like syndrome combined with congenital cataract

    DEFF Research Database (Denmark)

    Dad, S.; Østergaard, Elsebet; Thykjær, T.

    2010-01-01

    Usher syndrome (USH) is the most common genetic disease that causes both deafness and blindness. USH is divided into three types, USH1, USH2 and USH3, depending on the age of onset, the course of the disease, and on the degree of vestibular dysfunction. By homozygosity mapping of a consanguineous...... Danish family of Dutch descent, we have identified a novel locus for a rare USH3-like syndrome. The affected family members have a unique association of retinitis pigmentosa, progressive hearing impairment, vestibular dysfunction, and congenital cataract. The phenotype is similar, but not identical...... to that of USH3 patients, as congenital cataract has not been reported for USH3. By homozygosity mapping, we identified a 7.3 Mb locus on chromosome 15q22.2-23 with a maximum multipoint LOD score of 2.0. The locus partially overlaps with the USH1 locus, USH1H, a novel unnamed USH2 locus, and the non-syndromic...

  19. Identification of a novel locus for a USH3 like syndrome combined with congenital cataract.

    Science.gov (United States)

    Dad, S; Østergaard, E; Thykjaer, T; Albrectsen, A; Ravn, K; Rosenberg, T; Møller, L B

    2010-10-01

    Usher syndrome (USH) is the most common genetic disease that causes both deafness and blindness. USH is divided into three types, USH1, USH2 and USH3, depending on the age of onset, the course of the disease, and on the degree of vestibular dysfunction. By homozygosity mapping of a consanguineous Danish family of Dutch descent, we have identified a novel locus for a rare USH3-like syndrome. The affected family members have a unique association of retinitis pigmentosa, progressive hearing impairment, vestibular dysfunction, and congenital cataract. The phenotype is similar, but not identical to that of USH3 patients, as congenital cataract has not been reported for USH3. By homozygosity mapping, we identified a 7.3 Mb locus on chromosome 15q22.2-23 with a maximum multipoint LOD score of 2.0. The locus partially overlaps with the USH1 locus, USH1H, a novel unnamed USH2 locus, and the non-syndromic deafness locus DFNB48. © 2010 John Wiley & Sons A/S.

  20. Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.

    Science.gov (United States)

    Irum, Bushra; Khan, Shahid Y; Ali, Muhammad; Daud, Muhammad; Kabir, Firoz; Rauf, Bushra; Fatima, Fareeha; Iqbal, Hira; Khan, Arif O; Al Obaisi, Saif; Naeem, Muhammad Asif; Nasir, Idrees A; Khan, Shaheen N; Husnain, Tayyab; Riazuddin, Sheikh; Akram, Javed; Eghrari, Allen O; Riazuddin, S Amer

    2016-01-01

    The aim of this study is to identify the molecular basis of autosomal recessive congenital cataracts (arCC) in a large consanguineous pedigree. All participating individuals underwent a detailed ophthalmic examination. Each patient's medical history, particularly of cataracts and other ocular abnormalities, was compiled from available medical records and interviews with family elders. Blood samples were donated by all participating family members and used to extract genomic DNA. Genetic analysis was performed to rule out linkage to known arCC loci and genes. Whole-exome sequencing libraries were prepared and paired-end sequenced. A large deletion was found that segregated with arCC in the family, and chromosome walking was conducted to estimate the proximal and distal boundaries of the deletion mutation. Exclusion and linkage analysis suggested linkage to a region of chromosome 6p24 harboring GCNT2 (glucosaminyl (N-acetyl) transferase 2) with a two-point logarithm of odds score of 5.78. PCR amplifications of the coding exons of GCNT2 failed in individuals with arCC, and whole-exome data analysis revealed a large deletion on chromosome 6p in the region harboring GCNT2. Chromosomal walking using multiple primer pairs delineated the extent of the deletion to approximately 190 kb. Interestingly, a failure to amplify a junctional fragment of the deletion break strongly suggests an insertion in addition to the large deletion. Here, we report a novel insertion/deletion mutation at the GCNT2 locus that is responsible for congenital cataracts in a large consanguineous family.

  1. A nonsense mutation of γD-crystallin associated with congenital nuclear and posterior polar cataract in a Chinese family.

    Science.gov (United States)

    Zhai, Yi; Li, Jinyu; Zhu, Yanan; Xia, Yan; Wang, Wei; Yu, Yinhui; Yao, Ke

    2014-01-01

    The goal of this study was to characterize the disease-causing mutations in a Chinese family with congenital nuclear and posterior polar cataracts. Clinical data of patients in the family were recorded using slit-lamp photography and high definition video. Genomic DNA samples were extracted from the peripheral blood of the pedigree members and 100 healthy controls. Mutation screening was performed in the candidate genes by bi-directional sequencing of the amplified products. The congenital cataract phenotype of the pedigree was identified by slit-lamp examinations and observation during surgery as nuclear and posterior polar cataracts. Through the sequencing of the candidate genes, a heterozygous c. 418C>T change was detected in the coding region of the γD-crystallin gene (CRYGD). As a result of this change, a highly conserved arginine residue was replaced by a stop codon (p. R140X). This change was discovered among all of the affected individuals with cataracts, but not among the unaffected family members or the 100 ethnically matched controls. This study identified a novel congenital nuclear and posterior polar cataract phenotype caused by the recurrent mutation p. R140X in CRYGD.

  2. Temporary Piggyback Intraocular Lens Implantation Versus Single Intraocular Lens Implantation in Congenital Cataracts: Long-Term Clinical Outcomes.

    Science.gov (United States)

    Hwang, Sungsoon; Lim, Dong Hui; Lee, Soomin; Choi, Daye Diana; Chung, Eui-Sang; Chung, Tae-Young

    2018-04-01

    To report the long-term results of temporary piggyback IOL implantation in congenital cataract and to compare the clinical outcomes of temporary piggyback IOL with those of single IOL implantation. This is a retrospective, comparative, interventional study. The medical records of all consecutive patients who underwent cataract extraction and single or temporary piggyback IOL implantation within the first 3 years of life from 1999 to 2013 at Samsung Medical Center were reviewed. Twenty-eight eyes from 18 patients underwent single IOL implantation (monopseudophakia group), and 32 eyes of 20 patients underwent temporary piggyback IOL implantation in congenital cataract surgery (polypseudophakia group). The mean age at initial cataract surgery was 15.8 months in the monopseudophakia group and 11.1 months in the polypseudophakia group (P = 0.144). The average follow-up duration was 133 months in the monopseudophakia group and 120 months in the polypseudophakia group (P = 0.391). The best-corrected visual acuity at the last visit was 0.36 logMAR in the monopseudophakia group and 0.55 logMAR in the polypseudophakia group (P = 0.044). Four (14%) and 14 (44%) reoperations for complications within the anterior segment were performed in the monopseudophakia group and polypseudophakia group, respectively (P = 0.042). Four cases (14.3%) in the monopseudophakia group and 13 cases (40.6%) in the polypseudophakia group had a glaucoma-related adverse event (P = 0.086). Compared with primary single IOL implantation in congenital cataract, temporary piggyback IOL implantation produced worse visual acuity, higher reoperation rate, and higher risk of secondary glaucoma. Temporary piggyback IOL implantation does not have benefit in congenital cataract.

  3. Non-syndromic posterior lenticonus a cause of childhood cataract: evidence for X-linked inheritance.

    Science.gov (United States)

    Russell-Eggitt, I M

    2000-12-01

    When an X-linked pedigree of posterior lenticonus with cataract was identified further evidence for X-linked inheritance of this condition was sought. Forty-three cases of posterior lenticonus were identified from a database of 354 children with cataract. Two children with the X-linked syndromes of Lowe and Nance-Horan and 3 children with Fanconi syndrome have been excluded from further analysis. None of the children was deaf. None of the non-syndromic cases had microcornea. There were 38 cases of non-syndromic posterior lenticonus (approximately 11%). There were 15 children from 13 pedigrees and 23 apparently sporadic cases. Of the 106 cases on the database with unilateral cataract 15 had posterior lenticonus (approximately 14%). Eleven of 13 pedigrees were compatible with X-linked inheritance or autosomal dominant inheritance with variable expression. However, in 2 pedigrees there was father to son transmission. Posterior lenticonus is a common cause of unilateral infantile cataract, but is thought to be a rare cause of bilateral cataracts. This study suggests that posterior lenticonus is responsible for a significant proportion of childhood cataracts (approximately 14% of unilateral and approximately 9% of bilateral cases). Posterior lenticonus is generally thought to occur as a sporadic condition. This study demonstrates that there is a family history of early-onset cataract in a significant number of bilateral cases (approximately 58%).

  4. Mapping of the X-linked cataract (Xcat) mutation, the gene implicated in the Nance Horan syndrome, on the mouse X chromosome.

    Science.gov (United States)

    Stambolian, D; Favor, J; Silvers, W; Avner, P; Chapman, V; Zhou, E

    1994-07-15

    The Xcat mutation in the mouse, an X-linked inherited disorder, is characterized by the congenital onset of cataracts. The cataracts have morphologies similar to those of cataracts found in the human Nance Horan (X-linked cataract dental) syndrome, suggesting that Xcat is an animal model for Nance Horan. The Xcat mutation provides an opportunity to investigate, at the molecular level, the pathogenesis of cataract. As a first step to cloning the Xcat gene, we report the localization of the Xcat mutation with respect to known molecular markers on the mouse X chromosome. Back-cross progeny carrying the Xcat mutation were obtained from an interspecific cross. Genomic DNA from each mouse was subjected to Southern and PCR analysis to identify restriction fragment length polymorphisms and simple sequence length polymorphisms, respectively. Our results refine the location of Xcat to a 2-cM region, eliminate several genes from consideration as the Xcat mutation, identify molecular probes tightly linked with Xcat, and suggest candidate genes responsible for the Xcat phenotype.

  5. Anaesthetic Management of A Child with Multiple Congenital Anomalies Scheduled for Cataract Extraction

    Directory of Open Access Journals (Sweden)

    Kalpana Kulkarni

    2009-01-01

    Full Text Available In infants& children variety of conditions and syndromes are associated with difficult Airway. Anaesthetic management becomes a challenge if it remains unrecognized until induction and sometimes results in disaster, leading to oropharyngeal trauma, laryngeal oedema, cardiovascular& neurological complications. A 4-month-old child with multiple congenital anomalies was posted for cataract extraction for early and better development of vision. He had history of post birth respiratory distress, difficulty in feeding, breath holding with delayed mile stones. He was treated as for Juvenile asthma. This child was induced with inhalation anaesthesia. There was difficulty in laryngoscopic intubation and could pass much smaller size of the tube than predicted. He developed post operative stridor and desaturation. The problems which we faced during the anaesthetic management and during postoperative period are discussed with this case.

  6. Catarata congénita: actualización Congenital cataract: updating

    Directory of Open Access Journals (Sweden)

    Lourdes R Hernández Santos

    2004-06-01

    Full Text Available Se realizó una revisión del tema relacionado con la catarata congénita, enfermedad que constituye la primera causa de baja visión y la segunda causa de ceguera en Cuba. Se presenta su diagnóstico, antecedentes, clasificación, las características clínicas, entre otras. Además, los principios y técnicas quirúrgicas, complicaciones posquirúrgicas encontradas, así como su pronósticoA review of the topic on congenital cataract, which is the first cause of low vision and the second cause of blindness in Cuba, was made. Its diagnosis, antecedents, classification, clinical characteristics, postsurgical complications found, as well as its prognosis, are presented

  7. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

    Science.gov (United States)

    Wortmann, Saskia B; Ziętkiewicz, Szymon; Kousi, Maria; Szklarczyk, Radek; Haack, Tobias B; Gersting, Søren W; Muntau, Ania C; Rakovic, Aleksandar; Renkema, G Herma; Rodenburg, Richard J; Strom, Tim M; Meitinger, Thomas; Rubio-Gozalbo, M Estela; Chrusciel, Elzbieta; Distelmaier, Felix; Golzio, Christelle; Jansen, Joop H; van Karnebeek, Clara; Lillquist, Yolanda; Lücke, Thomas; Õunap, Katrin; Zordania, Riina; Yaplito-Lee, Joy; van Bokhoven, Hans; Spelbrink, Johannes N; Vaz, Frédéric M; Pras-Raves, Mia; Ploski, Rafal; Pronicka, Ewa; Klein, Christine; Willemsen, Michel A A P; de Brouwer, Arjan P M; Prokisch, Holger; Katsanis, Nicholas; Wevers, Ron A

    2015-02-05

    We studied a group of individuals with elevated urinary excretion of 3-methylglutaconic acid, neutropenia that can develop into leukemia, a neurological phenotype ranging from nonprogressive intellectual disability to a prenatal encephalopathy with progressive brain atrophy, movement disorder, cataracts, and early death. Exome sequencing of two unrelated individuals and subsequent Sanger sequencing of 16 individuals with an overlapping phenotype identified a total of 14 rare, predicted deleterious alleles in CLPB in 14 individuals from 9 unrelated families. CLPB encodes caseinolytic peptidase B homolog ClpB, a member of the AAA+ protein family. To evaluate the relevance of CLPB in the pathogenesis of this syndrome, we developed a zebrafish model and an in vitro assay to measure ATPase activity. Suppression of clpb in zebrafish embryos induced a central nervous system phenotype that was consistent with cerebellar and cerebral atrophy that could be rescued by wild-type, but not mutant, human CLPB mRNA. Consistent with these data, the loss-of-function effect of one of the identified variants (c.1222A>G [p.Arg408Gly]) was supported further by in vitro evidence with the mutant peptides abolishing ATPase function. Additionally, we show that CLPB interacts biochemically with ATP2A2, known to be involved in apoptotic processes in severe congenital neutropenia (SCN) 3 (Kostmann disease [caused by HAX1 mutations]). Taken together, mutations in CLPB define a syndrome with intellectual disability, congenital neutropenia, progressive brain atrophy, movement disorder, cataracts, and 3-methylglutaconic aciduria. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  8. Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC, is a neuronal protein.

    Directory of Open Access Journals (Sweden)

    Elisabetta Gazzerro

    Full Text Available "Hypomyelination and Congenital Cataract", HCC (MIM #610532, is an autosomal recessive disorder characterized by congenital cataract and diffuse cerebral and peripheral hypomyelination. HCC is caused by deficiency of Hyccin, a protein whose biological role has not been clarified yet. Since the identification of the cell types expressing a protein of unknown function can contribute to define the physiological context in which the molecule is explicating its function, we analyzed the pattern of Hyccin expression in the central and peripheral nervous system (CNS and PNS. Using heterozygous mice expressing the b-galactosidase (LacZ gene under control of the Hyccin gene regulatory elements, we show that the gene is primarily expressed in neuronal cells. Indeed, Hyccin-LacZ signal was identified in CA1 hippocampal pyramidal neurons, olfactory bulb, and cortical pyramidal neurons, while it did not colocalize with oligodendroglial or astrocytic markers. In the PNS, Hyccin was detectable only in axons isolated from newborn mice. In the brain, Hyccin transcript levels were higher in early postnatal development (postnatal days 2 and 10 and then declined in adult mice. In a model of active myelinogenesis, organotypic cultures of rat Schwann cells (SC/Dorsal Root Ganglion (DRG sensory neurons, Hyccin was detected along the neurites, while it was absent from SC. Intriguingly, the abundance of the molecule was upregulated at postnatal days 10 and 15, in the initial steps of myelinogenesis and then declined at 30 days when the process is complete. As Hyccin is primarily expressed in neurons and its mutation leads to hypomyelination in human patients, we suggest that the protein is involved in neuron-to-glia signalling to initiate or maintain myelination.

  9. Brain imaging findings of patients with congenital cataracts, facial dysmorphism neuropathy syndrome

    International Nuclear Information System (INIS)

    Zlatareva, D.; Penev, L.; Hadjidekov, V.; Chamova, T.; Guergeltcheva, V.; Tournev, I.; Tournev, I.; Bojinova, V.; Kaprelian, A.; Tzoneva, D.

    2012-01-01

    Congenital cataracts, facial dysmorphism neuropathy (CCFDN) syndrome is a rare genetic disorder of autosomal recessive inheritance, observed in patients of Gypsy ancestry. All patients are homozygous for the same mutation in the CTDP1 gene mapping to 18qter. The clinical manifestations of the disease include congenital cataracts, facial dysmorphism, peripheral neuropathy due to primary hypomyelination, intellectual impairment and involvement of central nervous system.The aim of this study is to analyze CNS magnetic resonance imaging findings of patients with CCFDN syndrome and to apply severity score system. MRI of 20 patients (10 children - 4 girls and 6 boys and 10 adults - 6 women and 4 men with CCFDN was performed on 1,5T unit. We apply severity score system (previously used for metachromatic leukodystrophy) to evaluate patients with CCFDN which was adapted to the changes observed in CCFDN patients. This score system assessed WM involvement, as well as the presence of cerebral and cerebellar atrophy. We have found pathologic findings in 19 patients (95%). White matter hyperintensities were found in 18 and cerebral atrophy in 18 patients. The severity score have varied from 0 to 18 points. In contrast to previous studies we have found higher frequency of white matter hyperintensities. The findings are more prominent with patients' age. The most common MRI findings are cerebral atrophy and periventricular hyperintensities. This study gives the first detailed description of MRI findings in CCFDN syndrome patients where severity score system was applied. The score system could be applied in follow-up studies to evaluate progression of CNS findings. (authors)

  10. Vision-related quality of life assessment using the NEI-VFQ-25 in adolescents and young adults with a history of congenital cataract.

    LENUS (Irish Health Repository)

    Kirwan, Caitriona

    2013-07-22

    To assess vision-specific health-related quality of life in adolescents and young adults with a history of congenital cataract using the National Eye Institute 25-item Visual Function Questionnaire (NEI-VFQ-25).

  11. Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).

    Science.gov (United States)

    Khan, Arif O; Aldahmesh, Mohammed A; Mohamed, Jawahir Y; Alkuraya, Fowzan S

    2012-06-01

    To correlate clinical examination with underlying genotype in asymptomatic females who are potential carriers of X-linked developmental cataract (Nance-Horan syndrome). An ophthalmologist blind to the pedigree performed comprehensive ophthalmic examination for 16 available family members (two affected and six asymptomatic females, five affected and three asymptomatic males). Facial features were also noted. Venous blood was collected for sequencing of the gene NHS. All seven affected family members had congenital or infantile cataract and facial dysmorphism (long face, bulbous nose, abnormal dentition). The six asymptomatic females ranged in age from 4-35 years old. Four had posterior Y-suture centered lens opacities; these four also exhibited the facial dysmorphism of the seven affected family members. The fifth asymptomatic girl had scattered fine punctate lens opacities (not centered on the Y-suture) while the sixth had clear lenses, and neither exhibited the facial dysmorphism. A novel NHS mutation (p.Lys744AsnfsX15 [c.2232delG]) was found in the seven patients with congenital or infantile cataract. This mutation was also present in the four asymptomatic girls with Y-centered lens opacities but not in the other two asymptomatic girls or in the three asymptomatic males (who had clear lenses). Lens opacities centered around the posterior Y-suture in the context of certain facial features were sensitive and specific clinical signs of carrier status for NHS mutation in asymptomatic females. Lens opacities that did not have this characteristic morphology in a suspected female carrier were not a carrier sign, even in the context of her affected family members.

  12. A Case of Bilateral Pigment Dispersion Syndrome Following Many Years of Uninterrupted Treatment With Atropine 1% for Bilateral Congenital Cataracts.

    Science.gov (United States)

    Gizzi, Corrado; Mohamed-Noriega, Jibran; Murdoch, Ian

    2017-10-01

    Describe an unusual case of bilateral pigment dispersion syndrome (PDS) following years of uninterrupted treatment with atropine 1% for bilateral congenital cataracts, speculate on potential mechanisms leading to this condition. This is a case report. A 45-year-old white patient on long-term treatment with atropine 1% ointment since his infancy for bilateral congenital cataracts developed PDS with secondary ocular hypertension. The patient showed all the hallmarks of PDS with secondary ocular hypertension. An anterior segment Swept-Source optical coherence tomography was obtained to review the iris profile. The patient showed good pressure response to topical prostaglandin therapy. This is the second case report of PDS in a patient with chronic use of topical atropine. The proposed mechanisms for pigment dispersion are discussed and the possibility raised of dispersion being a potential side effect of the drug.

  13. Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts

    Directory of Open Access Journals (Sweden)

    D. Wong

    2013-01-01

    Full Text Available The proximal q arm of chromosome 15 contains breakpoint regions BP1–BP5 with the classic deletion of BP1–BP3 best known to be associated with Prader-Willi and Angelman syndromes. The region is approximately 500 kb and microdeletions within the BP1-BP2 region have been reported in patients with developmental delay, behavioral abnormalities, and motor apraxia as well as dysmorphic features including hypertelorism, cleft or narrow palate, ear abnormalities, and recurrent upper airway infections. We report two patients with unique, never-before-reported 15q11.2 BP1-2 microdeletion syndrome findings, one with proximal esophageal atresia and distal tracheoesophageal fistula (type C and one with congenital cataracts. Cataracts have been described in Prader-Willi syndrome but we could not find any description of cataracts in Angelman syndrome. Esophageal atresia and tracheoesophageal fistula have not been reported to our knowledge in either syndrome. A chance exists that both cases are sporadic birth defects; however, the findings of the concomitant microdeletion cannot be overlooked as a possible cause. Based on our review of the literature and the presentation of our patients, we recommend that esophageal atresia and distal tracheoesophageal fistula as well as congenital cataracts be included in the phenotypic spectrum of 15q11.2 BP1-2 microdeletion syndrome.

  14. The Arg233Lys AQP0 mutation disturbs aquaporin0-calmodulin interaction causing polymorphic congenital cataract.

    Directory of Open Access Journals (Sweden)

    Shanshan Hu

    Full Text Available Calmodulin (CaM directly interacts with the aquaporin 0 (AQP0 C-terminus in a calcium dependent manner to regulate the water permeability of AQP0. We previously identified a missense mutation (p.R233K in the putative CaM binding domain of AQP0 C-terminus in a congenital cataract family. This study was aimed at exploring the potential pathogenesis of this mutation causative of cataract and mainly identifying how it influenced the binding of AQP0 to CaM. Wild type and R233K mutant AQP0 with EGFP-tag were transfected separately into Hela cells to determine the expression and subcellular localizations. The co-immunoprecipitation (CoIP assay was used to detect the interaction between AQP0 and CaM. AQP0 C-terminus peptides were synthesized with and without R233K, and the binding abilities of these peptides to CaM were assessed using a fluorescence binding assay. Localizations of wild type and R233K mutant AQP0 were determined from EGFP fluorescence, and the chimeric proteins were both localized abundantly in the plasma membrane. Protein expression levels of the culture cells showed no significant difference between them. The results from CoIP assay implied that R233K mutant presented more weakly in association with CaM than wild type AQP0. The AQP0 C-terminal mutant peptide was found to have 2.5-fold lower binding affinity to CaM than wild type peptide. These results suggested that R233K mutation did not affect the expression, location and trafficking of the protein but did influence the interaction between AQP0 and CaM. The binding affinity of AQP0 C-terminus to CaM was significantly reduced. Due to lack of the modulation of the Ca2+-calmodulin complex, the water permeability of AQP0 was subsequently augmented, which might lead to the development of this cataract.

  15. Hyccin, the Molecule Mutated in the Leukodystrophy Hypomyelination and Congenital Cataract (HCC), Is a Neuronal Protein

    Science.gov (United States)

    Giacomini, Caterina; Musante, Veronica; Fruscione, Floriana; La Padula, Veronica; Biancheri, Roberta; Scarfì, Sonia; Prada, Valeria; Sotgia, Federica; Duncan, Ian D.; Zara, Federico; Werner, Hauke B.; Lisanti, Michael P.; Nobbio, Lucilla; Corradi, Anna; Minetti, Carlo

    2012-01-01

    “Hypomyelination and Congenital Cataract”, HCC (MIM #610532), is an autosomal recessive disorder characterized by congenital cataract and diffuse cerebral and peripheral hypomyelination. HCC is caused by deficiency of Hyccin, a protein whose biological role has not been clarified yet. Since the identification of the cell types expressing a protein of unknown function can contribute to define the physiological context in which the molecule is explicating its function, we analyzed the pattern of Hyccin expression in the central and peripheral nervous system (CNS and PNS). Using heterozygous mice expressing the b-galactosidase (LacZ) gene under control of the Hyccin gene regulatory elements, we show that the gene is primarily expressed in neuronal cells. Indeed, Hyccin-LacZ signal was identified in CA1 hippocampal pyramidal neurons, olfactory bulb, and cortical pyramidal neurons, while it did not colocalize with oligodendroglial or astrocytic markers. In the PNS, Hyccin was detectable only in axons isolated from newborn mice. In the brain, Hyccin transcript levels were higher in early postnatal development (postnatal days 2 and 10) and then declined in adult mice. In a model of active myelinogenesis, organotypic cultures of rat Schwann cells (SC)/Dorsal Root Ganglion (DRG) sensory neurons, Hyccin was detected along the neurites, while it was absent from SC. Intriguingly, the abundance of the molecule was upregulated at postnatal days 10 and 15, in the initial steps of myelinogenesis and then declined at 30 days when the process is complete. As Hyccin is primarily expressed in neurons and its mutation leads to hypomyelination in human patients, we suggest that the protein is involved in neuron-to-glia signalling to initiate or maintain myelination. PMID:22461884

  16. Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome

    Directory of Open Access Journals (Sweden)

    Teodora Chamova

    2015-01-01

    Full Text Available Congenital cataracts, facial dysmorphism, neuropathy (CCFDN syndrome is a complex autosomal recessive multisystem disorder. The aim of the current study is to evaluate the degree of cognitive impairment in a cohort of 22 CCFDN patients and its correlation with patients’ age, motor disability, ataxia, and neuroimaging changes. Twenty-two patients with genetically confirmed diagnosis of CCFDN underwent a detailed neurological examination. Verbal and nonverbal intelligence, memory, executive functions, and verbal fluency wеre assessed in all the patients aged 4 to 47 years. Brain magnetic resonance imaging was performed in 20 affected patients. Eighteen affected were classified as having mild intellectual deficit, whereas 4 had borderline intelligence. In all psychometric tests, evaluating different cognitive domains, CCFDN patients had statistically significant lower scores when compared to the healthy control group. All cognitive domains seemed equally affected. The main abnormalities on brain MRI found in 19/20 patients included diffuse cerebral atrophy, enlargement of the lateral ventricles, and focal lesions in the subcortical white matter, different in number and size, consistent with demyelination more pronounced in the older CCFDN patients. The correlation analysis of the structural brain changes and the cognitive impairment found a statistically significant correlation only between the impairment of short-term verbal memory and the MRI changes.

  17. A novel syndrome of abnormal striatum and congenital cataract: evidence for linkage to chromosomes 11.

    Science.gov (United States)

    Al-Owain, M; Al-Zahrani, J; Al-Bakheet, A; Abudheim, N; Al-Younes, B; Aldhalaan, H; Al-Zaidan, H; Colak, D; Almohaileb, F; Abouzied, M E; Al-Fadhli, F; Meyer, B; Kaya, N

    2013-09-01

    We report a consanguineous family of three girls and one boy affected with a novel syndrome involving the lens and the basal ganglia. The phenotype is strikingly similar between affected siblings with cognitive impairment, attention deficit hyperactivity disorder (ADHD), microcephaly, growth retardation, congenital cataract, and dystonia. The magnetic resonance imaging showed unusual pattern of swelling of the caudate heads and thinning of the putamina with severe degree of hypometabolism on the [18F] deoxyglucose positron emission tomography. Furthermore, the clinical assessment provides the evidence that the neurological phenotype is very slowly progressive. We utilized the 10K single-nucleotide polymorphism (SNP) microarray genotyping for linkage analysis. Genome-wide scan indicated a 45.9-Mb region with a 4.2353 logarithm of the odds score on chromosome 11. Affymetrix genome-wide human SNP array 6.0 assay did not show any gross chromosomal abnormality. Targeted sequencing of two candidate genes within the linkage interval (PAX6 and B3GALTL) as well as mtDNA genome sequencing did not reveal any putative mutations. © 2012 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  18. Timing and approaches in congenital cataract surgery: a four-year, two-layer randomized controlled trial

    Directory of Open Access Journals (Sweden)

    Jin-Chao Liu

    2017-12-01

    Full Text Available "AIM: To compare visual prognoses and postoperative adverse events of congenital cataract surgery performed at different times and using different surgical approaches. METHODS: In this prospective, randomized controlled trial, we recruited congenital cataract patients aged 3mo or younger before cataract surgery. Sixty-one eligible patients were randomly assigned to two groups according to surgical timing: a 3-month-old group and a 6-month-old group. Each eye underwent one of three randomly assigned surgical procedures, as follows: surgery A, lens aspiration (I/A; surgery B, lens aspiration with posterior continuous curvilinear capsulorhexis (I/A+PCCC; and surgery C, lens aspiration with posterior continuous curvilinear capsulorhexis and anterior vitrectomy (I/A+PCCC+A-Vit. The long-term best-corrected visual acuity (BCVA and the incidence of complications in the different groups were compared and analyzed. RESULTS: A total of 57 participants (114 eyes with a mean follow-up period of 48.7mo were included in the final analysis. The overall logMAR BCVA in the 6-month-old group was better than that in the 3-month-old group (0.81±0.28 vs 0.96±0.30; P=0.02. The overall logMAR BCVA scores in the surgery B group were lower than the scores in the A and C groups (A: 0.80±0.29, B: 1.02±0.28, and C: 0.84±0.28; P=0.007. A multivariate linear regression revealed no significant relationships between the incidence of complications and long-term BCVA. CONCLUSION: It might be safer and more beneficial for bilateral total congenital cataract patients to undergo surgery at 6mo of age than 3mo. Moreover, with rigorous follow-up and timely intervention, the postoperative complications in these patients are treatable and do not compromise visual outcomes."

  19. Genetics Home Reference: X-linked congenital stationary night blindness

    Science.gov (United States)

    ... collapse boxes. Description X-linked congenital stationary night blindness is a disorder of the retina , which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing ...

  20. Childhood cataract: home to hospital.

    OpenAIRE

    Muhit, MA

    2004-01-01

    Globally, there are 190,000 children who are blind from cataract.1 Cataract in children may be present at birth (congenital cataract) or may appear anytime during the first few years of life (developmental cataract). Childhood cataract is the most common treatable cause of childhood blindness, being responsible for 10-30% of all childhood blindness. A recent national study in Bangladesh showed that 1 in every 3 blind children is unnecessarily blind from congenital/developmental cataract.

  1. Genetic localization and phenotypic expression of X-linked cataract (Xcat) in Mus musculus.

    Science.gov (United States)

    Favor, J; Pretsch, W

    1990-01-01

    Linkage data relative to the markers tabby and glucose-6-phosphate dehydrogenase are presented to locate X-linked cataract (Xcat) in the distal portion of the mouse X-chromosome between jimpy and hypophosphatemia. The human X-linked cataract-dental syndrome, Nance-Horan Syndrome, also maps closely to human hypophosphatemia and would suggest homology between mouse Xcat and human Nance-Horan Syndrome genes. In hemizygous males and homozygous females penetrance is complete with only slight variation in the degree of expression. Phenotypic expression in Xcat heterozygous females ranges from totally clear to totally opaque lenses. The phenotypic expression between the two lenses of a heterozygous individual could also vary between totally clear and totally opaque lenses. However, a correlation in the degree of expression between the eyes of an individual was observed. A variegated pattern of lens opacity was evident in female heterozygotes. Based on these observations, the site of gene action for the Xcat locus is suggested to be endogenous to the lens cells and the precursor cell population of the lens is concluded to be small. The identification of an X-linked cataract locus is an important contribution to the estimate of the number of mutable loci resulting in cataract, an estimate required so that dominant cataract mutagenesis results may be expressed on a per locus basis. The Xcat mutation may be a useful marker for a distal region of the mouse X-chromosome which is relatively sparsely marked and the X-linked cataract mutation may be employed in gene expression and lens development studies.

  2. Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS).

    Science.gov (United States)

    Brooks, Simon; Ebenezer, Neil; Poopalasundaram, Subathra; Maher, Eamonn; Francis, Peter; Moore, Anthony; Hardcastle, Alison

    2004-06-01

    The X-linked congenital cataract (CXN) locus has been mapped to a 3-cM (approximately 3.5 Mb) interval on chromosome Xp22.13, which is syntenic to the mouse cataract disease locus Xcat and encompasses the recently refined Nance-Horan syndrome (NHS) locus. A positional cloning strategy has been adopted to identify the causative gene. In an attempt to refine the CXN locus, seven microsatellites were analysed within 21 individuals of a CXN family. Haplotypes were reconstructed confirming disease segregation with markers on Xp22.13. In addition, a proximal cross-over was observed between markers S3 and S4, thereby refining the CXN disease interval by approximately 400 Kb to 3.2 Mb, flanked by markers DXS9902 and S4. Two known genes (RAI2 and RBBP7) and a novel gene (TL1) were screened for mutations within an affected male from the CXN family and an NHS family by direct sequencing of coding exons and intron- exon splice sites. No mutations or polymorphisms were identified, therefore excluding them as disease-causative in CXN and NHS. In conclusion, the CXN locus has been successfully refined and excludes PPEF1 as a candidate gene. A further three candidates were excluded based on sequence analysis. Future positional cloning efforts will focus on the region of overlap between CXN, Xcat, and NHS.

  3. Juvenile-Onset Diabetes and Congenital Cataract: “Double-Gene” Mutations Mimicking a Syndromic Diabetes Presentation

    Directory of Open Access Journals (Sweden)

    Caroline Lenfant

    2017-11-01

    Full Text Available Monogenic forms of diabetes may account for 1–5% of all cases of diabetes, and may occur in the context of syndromic presentations. We investigated the case of a girl affected by insulin-dependent diabetes, diagnosed at 6 years old, associated with congenital cataract. Her consanguineous parents and her four other siblings did not have diabetes or cataract, suggesting a recessive syndrome. Using whole exome sequencing of the affected proband, we identified a heterozygous p.R825Q ABCC8 mutation, located at the exact same amino-acid position as the p.R825W recurring diabetes mutation, hence likely responsible for the diabetes condition, and a homozygous p.G71S mutation in CRYBB1, a gene known to be responsible for congenital cataract. Both mutations were predicted to be damaging and were absent or extremely rare in public databases. Unexpectedly, we found that the mother was also homozygous for the CRYBB1 mutation, and both the mother and one unaffected sibling were heterozygous for the ABCC8 mutation, suggesting incomplete penetrance of both mutations. Incomplete penetrance of ABCC8 mutations is well documented, but this is the first report of an incomplete penetrance of a CRYBB1 mutation, manifesting between susceptible subjects (unaffected mother vs. affected child and to some extent within the patient herself, who had distinct cataract severities in both eyes. Our finding illustrates the importance of family studies to unmask the role of confounding factors such as double-gene mutations and incomplete penetrance that may mimic monogenic syndromes including in the case of strongly evocative family structure with consanguinity.

  4. A link between maternal malnutrition and depletion of glutathione in the developing lens: a possible explanation for idiopathic childhood cataract?

    Science.gov (United States)

    Kumar, Deepa; Lim, Julie C; Donaldson, Paul J

    2013-11-01

    Lens cataract is the leading cause of blindness in developing countries. While cataract is primarily a disease of old age and is relatively rare in children, accounting for only four per cent of global blindness, childhood cataract is responsible for a third of the economic cost of blindness. While many of the causes of cataract in children are known, over half of childhood cataracts are idiopathic with no known cause. The incidence of idiopathic cataract is highest in developing countries and studies have discovered that low birth weight is a risk factor in the development of idiopathic childhood cataract. As low birth weight is a reflection of poor foetal growth, it is possible that maternal malnutrition, which is endemic in some developing countries, results in the altered physiology of the foetal lens. We have conducted a review of the literature that provides evidence for a link between maternal malnutrition, low birth weight and the development of childhood cataract. Using our accumulated knowledge on the pathways that deliver nutrients to the adult lens, we propose a cellular mechanism, by which oxidative stress caused by maternal malnutrition affects the development of antioxidant defence pathways in the embryonic lens, leading to an accelerated onset of nuclear cataract in childhood. © 2013 The Authors. Clinical and Experimental Optometry © 2013 Optometrists Association Australia.

  5. Analysis of eye lens-specific genes in congenital hereditary cataracts and microphthalmia of the miniature schnauzer dog.

    Science.gov (United States)

    Zhang, R L; Samuelson, D A; Zhang, Z G; Reddy, V N; Shastry, B S

    1991-08-01

    The congenital hereditary cataracts and microphthalmia in the miniature schnauzer dog are inherited by an autosomal recessive mode. To understand the genetic basis of these diseases, the authors purified and analyzed leukocyte deoxyribonucleic acid (DNA) from affected and normal animals using a candidate gene approach. Because the genes that encode the lens-specific proteins, specifically, alpha, beta, and gamma crystallins and the membrane protein (MP26), are known to maintain the structure and function of the lens, the authors used complimentary DNA (cDNA) fragments that corresponded to the above genes to search for the mutations at their loci in the affected animals. They found no evidence of the gene deletion and rearrangement in any of the five loci. In addition, the hybridizable sequences of the dog DNA to the specific probes for the human chromosome 4 and 18 loci, which are reported to be involved in the abnormality of the human eye, seem to be unaffected. These data support the notion that the hereditary cataracts and microphthalmia in the dog may be associated with genes other than those reported for several animal systems.

  6. Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

    Science.gov (United States)

    Burdon, Kathryn P; McKay, James D; Sale, Michèle M; Russell-Eggitt, Isabelle M; Mackey, David A; Wirth, M Gabriela; Elder, James E; Nicoll, Alan; Clarke, Michael P; FitzGerald, Liesel M; Stankovich, James M; Shaw, Marie A; Sharma, Shiwani; Gajovic, Srecko; Gruss, Peter; Ross, Shelley; Thomas, Paul; Voss, Anne K; Thomas, Tim; Gécz, Jozef; Craig, Jamie E

    2003-11-01

    Nance-Horan syndrome (NHS) is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation. NHS has been mapped to a 1.3-Mb interval on Xp22.13. We have confirmed the same localization in the original, extended Australian family with NHS and have identified protein-truncating mutations in a novel gene, which we have called "NHS," in five families. The NHS gene encompasses approximately 650 kb of genomic DNA, coding for a 1,630-amino acid putative nuclear protein. NHS orthologs were found in other vertebrates, but no sequence similarity to known genes was identified. The murine developmental expression profile of the NHS gene was studied using in situ hybridization and a mouse line containing a lacZ reporter-gene insertion in the Nhs locus. We found a complex pattern of temporally and spatially regulated expression, which, together with the pleiotropic features of NHS, suggests that this gene has key functions in the regulation of eye, tooth, brain, and craniofacial development.

  7. Studies on congenital hereditary cataract and microphthalmia of the miniature schnauzer dog.

    Science.gov (United States)

    Shastry, B S; Reddy, V N

    1994-09-30

    Hereditary cataract in dogs occurs as an autosomal recessive trait. The opacity is primarily in the lens nucleus and posterior cortex. The affected animals also have other ocular abnormalities such as microphthalmia. To understand the genetic basis of this disorder, we have analyzed leukocyte DNA from affected and normal dogs for possible mutations in the homeobox containing gene and myotonic dystrophy locus. The results show that there are no signs of microdeletion, insertion, point mutation and rearrangements in these loci. Although these observations cannot completely rule out the possibility of point mutations, they suggest that the above loci are unlikely to be associated with the disease.

  8. An Internal Disulfide Locks a Misfolded Aggregation-prone Intermediate in Cataract-linked Mutants of Human γD-Crystallin.

    Science.gov (United States)

    Serebryany, Eugene; Woodard, Jaie C; Adkar, Bharat V; Shabab, Mohammed; King, Jonathan A; Shakhnovich, Eugene I

    2016-09-02

    Considerable mechanistic insight has been gained into amyloid aggregation; however, a large number of non-amyloid protein aggregates are considered "amorphous," and in most cases, little is known about their mechanisms. Amorphous aggregation of γ-crystallins in the eye lens causes cataract, a widespread disease of aging. We combined simulations and experiments to study the mechanism of aggregation of two γD-crystallin mutants, W42R and W42Q: the former a congenital cataract mutation, and the latter a mimic of age-related oxidative damage. We found that formation of an internal disulfide was necessary and sufficient for aggregation under physiological conditions. Two-chain all-atom simulations predicted that one non-native disulfide in particular, between Cys(32) and Cys(41), was likely to stabilize an unfolding intermediate prone to intermolecular interactions. Mass spectrometry and mutagenesis experiments confirmed the presence of this bond in the aggregates and its necessity for oxidative aggregation under physiological conditions in vitro Mining the simulation data linked formation of this disulfide to extrusion of the N-terminal β-hairpin and rearrangement of the native β-sheet topology. Specific binding between the extruded hairpin and a distal β-sheet, in an intermolecular chain reaction similar to domain swapping, is the most probable mechanism of aggregate propagation. © 2016 by The American Society for Biochemistry and Molecular Biology, Inc.

  9. An Internal Disulfide Locks a Misfolded Aggregation-prone Intermediate in Cataract-linked Mutants of Human γD-Crystallin*

    Science.gov (United States)

    Serebryany, Eugene; Woodard, Jaie C.; Adkar, Bharat V.; Shabab, Mohammed; King, Jonathan A.; Shakhnovich, Eugene I.

    2016-01-01

    Considerable mechanistic insight has been gained into amyloid aggregation; however, a large number of non-amyloid protein aggregates are considered “amorphous,” and in most cases, little is known about their mechanisms. Amorphous aggregation of γ-crystallins in the eye lens causes cataract, a widespread disease of aging. We combined simulations and experiments to study the mechanism of aggregation of two γD-crystallin mutants, W42R and W42Q: the former a congenital cataract mutation, and the latter a mimic of age-related oxidative damage. We found that formation of an internal disulfide was necessary and sufficient for aggregation under physiological conditions. Two-chain all-atom simulations predicted that one non-native disulfide in particular, between Cys32 and Cys41, was likely to stabilize an unfolding intermediate prone to intermolecular interactions. Mass spectrometry and mutagenesis experiments confirmed the presence of this bond in the aggregates and its necessity for oxidative aggregation under physiological conditions in vitro. Mining the simulation data linked formation of this disulfide to extrusion of the N-terminal β-hairpin and rearrangement of the native β-sheet topology. Specific binding between the extruded hairpin and a distal β-sheet, in an intermolecular chain reaction similar to domain swapping, is the most probable mechanism of aggregate propagation. PMID:27417136

  10. Cataract Surgery

    Science.gov (United States)

    ... Oncology Oculoplastics/Orbit Refractive Management/Intervention Retina/Vitreous Uveitis Focus On Pediatric Ophthalmology ... Are Cataracts? Pediatric Cataracts Cataract Diagnosis and Treatment Cataract Surgery IOL Implants: Lens Replacement After Cataracts ...

  11. Congenital heart disease linked to maternal autoimmunity against cardiac myosin.

    Science.gov (United States)

    Cole, Charles R; Yutzey, Katherine E; Brar, Anoop K; Goessling, Lisa S; Van Vickle-Chavez, Sarah J; Cunningham, Madeleine W; Eghtesady, Pirooz

    2014-05-01

    Structural congenital heart disease (CHD) has not previously been linked to autoimmunity. In our study, we developed an autoimmune model of structural CHD that resembles hypoplastic left heart syndrome (HLHS), a life-threatening CHD primarily affecting the left ventricle. Because cardiac myosin (CM) is a dominant autoantigen in autoimmune heart disease, we hypothesized that immunization with CM might lead to transplacental passage of maternal autoantibodies and a prenatal HLHS phenotype in exposed fetuses. Elevated anti-CM autoantibodies in maternal and fetal sera, as well as IgG reactivity in fetal myocardium, were correlated with structural CHD that included diminished left ventricular cavity dimensions in the affected progeny. Further, fetuses that developed a marked HLHS phenotype had elevated serum titers of anti-β-adrenergic receptor Abs, as well as increased protein kinase A activity, suggesting a potential mechanism for the observed pathological changes. Our maternal-fetal model presents a new concept linking autoimmunity against CM and cardiomyocyte proliferation with cardinal features of HLHS. To our knowledge, this report shows the first evidence in support of a novel immune-mediated mechanism for pathogenesis of structural CHD that may have implications in its future diagnosis and treatment.

  12. A novel HSF4 gene mutation (p.R405X causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan

    Directory of Open Access Journals (Sweden)

    Cheema Abdul

    2008-11-01

    Full Text Available Abstract Background Hereditary cataracts are most frequently inherited as autosomal dominant traits, but can also be inherited in an autosomal recessive or X-linked fashion. To date, 12 loci for autosomal recessive cataracts have been mapped including a locus on chromosome 16q22 containing the disease-causing gene HSF4 (Genbank accession number NM_001040667. Here, we describe a family from Pakistan with the first nonsense mutation in HSF4 thus expanding the mutational spectrum of this heat shock transcription factor gene. Methods A large consanguineous Pakistani family with autosomal recessive cataracts was collected from Quetta. Genetic linkage analysis was performed for the common known autosomal recessive cataracts loci and linkage to a locus containing HSF4 (OMIM 602438 was found. All exons and adjacent splice sites of the heat shock transcription factor 4 gene (HSF4 were sequenced. A mutation-specific restriction enzyme digest (HphI was performed for all family members and unrelated controls. Results The disease phenotype perfectly co-segregated with markers flanking the known cataract gene HSF4, whereas other autosomal recessive loci were excluded. A maximum two-point LOD score with a Zmax = 5.6 at θ = 0 was obtained for D16S421. Direct sequencing of HSF4 revealed the nucleotide exchange c.1213C > T in this family predicting an arginine to stop codon exchange (p.R405X. Conclusion We identified the first nonsense mutation (p.R405X in exon 11 of HSF4 in a large consanguineous Pakistani family with autosomal recessive cataract.

  13. A locus for isolated cataract on human Xp.

    Science.gov (United States)

    Francis, P J; Berry, V; Hardcastle, A J; Maher, E R; Moore, A T; Bhattacharya, S S

    2002-02-01

    To genetically map the gene causing isolated X linked cataract in a large European pedigree. Using the patient registers at Birmingham Women's Hospital, UK, we identified and examined 23 members of a four generation family with nuclear cataract. Four of six affected males also had complex congenital heart disease. Pedigree data were collated and leucocyte DNA extracted from venous blood. Linkage analysis by PCR based microsatellite marker genotyping was used to identify the disease locus and mutations within candidate genes screened by direct sequencing. The disease locus was genetically refined to chromosome Xp22, within a 3 cM linkage interval flanked by markers DXS9902 and DXS999 (Zmax=3.64 at theta=0 for marker DXS8036). This is the first report of a locus for isolated inherited cataract on the X chromosome. The disease interval lies within the Nance-Horan locus suggesting allelic heterogeneity. The apparent association with congenital cardiac anomalies suggests a possible new oculocardiac syndrome.

  14. Improving Information on Maternal Medication Use by Linking Prescription Data to Congenital Anomaly Registers

    DEFF Research Database (Denmark)

    de Jonge, Linda; Garne, Ester; Gini, Rosa

    2015-01-01

    INTRODUCTION: Research on associations between medication use during pregnancy and congenital anomalies is significative for assessing the safe use of a medicine in pregnancy. Congenital anomaly (CA) registries do not have optimal information on medicine exposure, in contrast to prescription...... databases. Linkage of prescription databases to the CA registries is a potentially effective method of obtaining accurate information on medicine use in pregnancies and the risk of congenital anomalies. METHODS: We linked data from primary care and prescription databases to five European Surveillance...... of Congenital Anomalies (EUROCAT) CA registries. The linkage was evaluated by looking at linkage rate, characteristics of linked and non-linked cases, first trimester exposure rates for six groups of medicines according to the prescription data and information on medication use registered in the CA databases...

  15. [Expression of mutation type GJA8 gene and wild type GJA8 gene of a congenital inherited nuclear cataract family in eukaryotic cells].

    Science.gov (United States)

    Zheng, Jian-qiu; Liu, Ping; Wang, Jian-wen; Liu, Jian-ju

    2010-04-20

    To clone the sequence of mutation type GJA8 gene (mGJA8) and wild type GJA8 gene (wGJA8) of a congenital inherited nuclear cataract family and study their expression in eukaryotic cell lines in vitro. The mGJA8 and wGJA8 were amplified from this family's DNA and healthy people's DNA by PCR respectively. The mGJA8 and wGJA8 were recombined with plasmid pEGFP-N1 respectively. The accuracy of pEGFP-N1-GJA8 was confirmed by restriction enzyme digestion and DNA sequencing. Finally pEGFP-N1- mGJA8 and pEGFP-N1- wGJA8 and GFP protein were transfected into COS7 cells by lipofectin. The expression of pEGFP-N1-GJA8 and GFP fusion protein were to observe under fluorescence microscope, and to detect by Western-blotting and immunohistochemical staining. The mGJA8 and wGJA8 were cloned successfully. With restricting enzyme digestion analysis and DNA sequencing, recombinant plasmid pEGFP-N1-mGJA8 and pEGFP-N1-wGJA8 were constructed correctly and their GFP fusions were expressed in transfected COS7 cells. The expression of pEGFP-N1-mGJA8 and pEGFP-N1-wGJA8 fusion protein were observed under fluorescence microscope, and detected by Western-blotting and immunohistochemical staining successfully. The mGJA8 gene and wGJA8 gene are cloned successfully, and pEGFP-N1-mGJA8 and pEGFP-N1-mGJA8 fusion protein can be expressed in COS7 cells, which establish the foundation for further studying the mechanism of this congenital inherited nuclear cataract family.

  16. Novel syndrome of cataracts, retinitis pigmentosa, late onset deafness and sperm abnormalities: a new Usher syndrome subtype with X-linked inheritance?

    Science.gov (United States)

    Malekpour, Mahdi; Shahidi, Arash; Khorsandi Ashtiani, Mohammad Taghi; Motasaddi Zarandy, Masoud

    2007-07-15

    Tissues of the auditory, ocular and reproductive systems have some similarities in their protein families and structures. Consequently, syndromes comprising these systems are described. Hearing loss alone is a component of more than 400 known syndromes and is a common nonsyndromic congenital disorder. Here we describe a syndrome in five brothers with the distinctive presentation of late-onset progressive hearing loss, cataracts, retinitis pigmentosa, sperm motility and shape problems in a family from the Kurdish population in Iran. The clinical findings of these patients are presented in detail and compared to the classical Usher syndromes. (c) 2007 Wiley-Liss, Inc

  17. Possible X linked congenital mitochondrial cardiomyopathy in three families.

    OpenAIRE

    Orstavik, K H; Skjörten, F; Hellebostad, M; Hågå, P; Langslet, A

    1993-01-01

    Familial cases of childhood congestive cardiomyopathy with X linked recessive inheritance and abnormalities of heart muscle mitochondria have been previously reported. We report here three families with possible X linked congestive cardiomyopathy and specific mitochondrial abnormalities. The heart disorder presented as endocardial fibroelastosis with neonatal death in two brothers in one family, and as heart failure and death in infancy in two brothers in the other two families. In one family...

  18. Structure-Function Correlation Analysis of Connexin50 Missense Mutations Causing Congenital Cataract: Electrostatic Potential Alteration Could Determine Intracellular Trafficking Fate of Mutants

    Directory of Open Access Journals (Sweden)

    Devroop Sarkar

    2014-01-01

    Full Text Available Connexin50 (Cx50 mutations are reported to cause congenital cataract probably through the disruption of intercellular transport in the lens. Cx50 mutants that undergo mistrafficking have generally been associated with failure to form functional gap junction channels; however, sometimes even properly trafficked mutants were found to undergo similar consequences. We hereby wanted to elucidate any structural bases of the varied functional consequences of Cx50 missense mutations through in silico approach. Computational studies have been done based on a Cx50 homology model to assess conservation, solvent accessibility, and 3-dimensional localization of mutated residues as well as mutation-induced changes in surface electrostatic potential, H-bonding, and steric clash. This was supplemented with meta-analysis of published literature on the functional properties of connexin missense mutations. Analyses revealed that the mutation-induced critical alterations of surface electrostatic potential in Cx50 mutants could determine their fate in intracellular trafficking. A similar pattern was observed in case of mutations involving corresponding conserved residues in other connexins also. Based on these results the trafficking fates of 10 uncharacterized Cx50 mutations have been predicted. Further experimental analyses are needed to validate the observed correlation.

  19. Recognizing Cataracts

    Science.gov (United States)

    ... age-related cataract. They recommend eating plenty of green leafy vegetables, fruits, nuts and other healthy foods. Also, don’t smoke, because smoking may speed cataract development. To screen for early signs of eye disease, Bishop recommends ...

  20. Abordagem da Catarata Congênita: análise de série de casos Approach to Congenital Cataract: case series analysis

    Directory of Open Access Journals (Sweden)

    Marina Soares Viegas Moura Rezende

    2008-02-01

    êm para o prognóstico visual funcional.INTRODUCTION: Congenital cataract is an important cause of poor visual acuity and amblyopia, with an incidence of 0,4%. Surgical approaches in children present many advances through the years, such as intraocular lenses implantation and others thechniques, wich results in better visual outcomes and prevention of amblyopia. PURPOSE: To report the early outcomes of a series of cases submited to different surgical techiniques for pediatric cataract, in the Tadeu Cvintal Ophthalmology Institute, from January 2004 to January 2005. METHODS: Retrospective study in 19 children (32 eyes with congenital cataract.The surgical management was separated in three series: pars plana lensectomy, phacoaspiration with or without intraocular lenses; and also separated in patients who had been submitted to posterior capsulotomy.Visual acuity has been tested with four months of follow up. RESULTS: Lensectomy was performed on eight cases, phacoaspiration with intraocular lenses implantation on 13, phacoaspiration without intraocular lenses on 11. Ten eyes had primary posterior capsulotomy, 13 had secondary posteior capsulotomy one month after initial surgery, nine did not need secondary surgery for capsular opacification. The only observed complication was capsule opacification in 60% of the cases. Fourteen (14 eyes (43% had visual acuity between 20/20 and 20/40 (LoGMAR +0.0 to + 0.3, from which eight were operated on bilateral cataract. The mean age in the group with best visual acuity was 7 yrs old. Seven eyes from this group (50% had phacoaspiration with intraocular lenses implantation, and five (35% with secondary capsulotomy. CONCLUSIONS: This series showed good visual and functional early outcomes, even with a small and heterogeneous sample. A longer follow-up is needed to evaluate the different prognosis for each surgical technique .

  1. X-linked congenital adrenal hypoplasia associated with hypospadias in an Egyptian baby: a case report

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    Metwalley Kotb

    2012-12-01

    Full Text Available Abstract Introduction X-linked congenital adrenal hypoplasia is a rare developmental disorder of the human adrenal cortex and is caused by deletion or mutation of the dosage-sensitive sex reversal adrenal hypoplasia congenita critical region of the X chromosome, gene 1 (DAX-1 gene. Most affected children present with failure to thrive, salt wasting and hypoglycemic convulsions in the first months of life. Hypospadias affects approximately one in 250 live male births. Mutations in the mastermind-like domain-containing 1 (MAMLD1 gene have been implicated as one of the causes of hypospadias in children. To the best of our knowledge, an association between congenital adrenal hypoplasia due to a DAX-1 mutation and hypospadias due to mutation of the MAMLD1 gene has not previously been reported in the literature. Case presentation A 35-day-old male Egyptian baby was referred to our institution for the evaluation of a two-week history of recurrent vomiting associated with electrolyte imbalance. On examination, our patient was found to have hypotension and dehydration. A genital examination showed distal penile hypospadias with chordee and normal testes. He had hyponatremia, hyperkalemia, hypoglycemia and metabolic acidosis. Endocrinological investigations revealed low levels of cortisol, 17-hydroxyprogesterone and aldosterone, with a high level of adrenocorticotrophic hormone. A provisional diagnosis of congenital adrenal hypoplasia associated with hypospadias was made. A molecular genetics study confirmed the diagnosis of X-linked congenital adrenal hypoplasia due to DAX-1 mutations and hypospadias due to MAMLD1 mutation. He was started on hydrocortisone and fludrocortisone treatment. After three weeks of treatment, his symptoms improved and his blood sugar, sodium, potassium and cortisol levels normalized. Conclusions We report the case of an Egyptian baby with an association of congenital adrenal hypoplasia due to DAX-1 mutation and hypospadias due

  2. Características clínicas y epidemiológicas de la catarata congénita e infantil Clinical and epidemiological characteristics of the congenital and infantile cataract

    Directory of Open Access Journals (Sweden)

    Merixy Charón Milián

    2012-12-01

    Full Text Available Introducción: la catarata de cualquier etiología es la una de las causas más importantes de ceguera tratable en los niños. Objetivos: caracterizar, desde los puntos de vista clínico y epidemiológico, la catarata congénita e infantil. Métodos: se realizó un estudio observacional, descriptivo y retrospectivo en el Hospital Pediátrico "William Soler", entre enero de 2004 y junio de 2006. Se analizaron las variables: edad, sexo, procedencia, vía de captación, síntomas, factores de riesgo, localización, etiología probable y lateralidad de la catarata, alteraciones oculares asociadas y visión posquirúrgica. Los resultados se expresaron en media y porcentaje. Resultados: la edad promedio fue de 4,9 años y para menores de 1 año de 6,6 meses. Predominaron los varones (60,32 %, los pacientes de La Habana (25,4 %, la remisión médica como vía de captación (71,43 %, la leucocoria (30,15 %, la presencia de anomalías congénitas múltiples (34,92 %, la localización central de la catarata (44,44 %, la causa idiopática (41,27 % y la bilateralidad (66,67 %. El 34,92 % de los pacientes tenía asociada otra anomalía ocular, y el 59,04 % de los ojos operados alcanzaron visión entre 0,7 y 1,0. Conclusiones: en la serie analizada predominaron los lactantes menores de 2 meses y los varones, los pacientes de La Habana, la remisión médica, la leucocoria y las anomalías congénitas múltiples asociadas, la localización central y la posible etiología; en las bilaterales, el origen hereditario; y en las unilaterales, la causa desconocida. La mejoría visual posquirúrgica fue mayor a medida que disminuyó la edad del paciente al momento de realizar la cirugía.Introduction: cataract of any etiology is one of the most important causes of treatable blindness in children. Objectives: to clinically and epidemiologically characterize the congenital and infantile cataract. Methods: a retrospective, observational and descriptive study was carried

  3. Pediatric cataract surgery in Madagascar | Randrianotahina ...

    African Journals Online (AJOL)

    Conclusions: In Madagascar, presentation for congenital and developmental cataract is very late, visual outcome poor and follow‑up inadequate. There is an urgent need for a childhood blindness program to effectively deal with pediatric cataract, an avoidable cause of blindness and visual disability in children on the island ...

  4. Avaliação da qualidade de vida relacionada à visão em crianças com catarata congênita bilateral Assessing vision-related quality of life in children with bilateral congenital cataracts

    Directory of Open Access Journals (Sweden)

    Marcia Caires Bestilleiro Lopes

    2009-08-01

    Full Text Available OBJETIVO: Avaliar a qualidade de vida relacionada à visão em crianças com catarata congênita bilateral, utilizando o Questionário de Função Visual Infantil (QFVI. MÉTODOS: O QFVI possui duas diferentes apresentações: crianças menores e maiores de 3 anos, sendo dividido em seis domínios: saúde geral, saúde geral da visão, competência, personalidade, impacto familiar e tratamento. O QFVI foi aplicado aos pais/cuidadores/responsáveis de crianças com catarata congênita bilateral do Instituto da Visão da Universidade Federal de São Paulo. As notas encontradas nos domínios foram comparadas entre os grupos controle - crianças com visão normal (n=32, média da idade=38 meses; dp=17,3 e experimental - crianças com catarata congênita (menores de 3 anos, n=19, idade média=14,6 meses; dp=10,7 e maiores de 3 anos, n=18, idade média=4,4 anos; dp=1,5, alocados segundo o grau de comprometimento visual em n=16 - sem deficiência visual; n=10 - deficiência visual leve; n=11 - deficiência visual grave. Para a análise estatística foram utilizados os testes t e análise de variância (ANOVA. RESULTADOS: O grupo experimental apresentou redução estatisticamente significativa em todos os domínios do questionário, quando comparado ao grupo controle. O domínio competência apresentou-se com baixa nota havendo redução estatisticamente significante de acordo com a gravidade da deficiência visual (ANOVA F 5,1, p=0,01; teste de Tukey pPURPOSE: To assess vision-related quality of life in children with bilateral congenital cataracts, using the recently developed Children's Visual Function Questionnaire (CVFQ. METHODS: CVFQ has two presentations, one for children under 3 years of age and the other for older children, and is divided in six subscales - general health; general vision; competence; personality; family impact and treatment. From those, a composite score can also be calculated. The CVFQ was applied in the hospital setting to

  5. Cataract Vision Simulator

    Science.gov (United States)

    ... Oncology Oculoplastics/Orbit Refractive Management/Intervention Retina/Vitreous Uveitis Focus On Pediatric Ophthalmology ... Are Cataracts? Pediatric Cataracts Cataract Diagnosis and Treatment Cataract Surgery IOL Implants: Lens Replacement After Cataracts ...

  6. Solar ultraviolet radiation cataract.

    Science.gov (United States)

    Löfgren, Stefan

    2017-03-01

    Despite being a treatable disease, cataract is still the leading cause for blindness in the world. Solar ultraviolet radiation is epidemiologically linked to cataract development, while animal and in vitro studies prove a causal relationship. However, the pathogenetic pathways for the disease are not fully understood and there is still no perfect model for human age related cataract. This non-comprehensive overview focus on recent developments regarding effects of solar UV radiation wavebands on the lens. A smaller number of fundamental papers are also included to provide a backdrop for the overview. Future studies are expected to further clarify the cellular and subcellular mechanisms for UV radiation-induced cataract and especially the isolated or combined temporal and spatial effects of UVA and UVB in the pathogenesis of human cataract. Regardless of the cause for cataract, there is a need for advances in pharmaceutical or other treatment modalities that do not require surgical replacement of the lens. Copyright © 2016. Published by Elsevier Ltd.

  7. Cataract removal

    Science.gov (United States)

    ... placed into the eye to restore the focusing power of the old lens (cataract). It helps improve ... tests by the ophthalmologist. The doctor will use ultrasound or a laser scanning device to measure your ...

  8. Congenital olfactory impairment is linked to cortical changes in prefrontal and limbic brain regions

    DEFF Research Database (Denmark)

    Karstensen, Helena Gásdal; Vestergaard, Martin; Baaré, William F C

    2018-01-01

    differently in individuals who suffer from lifelong olfactory deprivation relative to healthy normosmic individuals. To address this question, we examined if regional variations in gray matter volume were associated with smell ability in seventeen individuals with isolated congenital olfactory impairment (COI...... in left middle frontal gyrus and right superior frontal sulcus (SFS). COI subjects with severe olfactory impairment (anosmia) had reduced grey matter volume in the left mOFC and increased volume in right piriform cortex and SFS. Within the COI group olfactory ability, measured with the "Sniffin' Sticks...... piriform cortex, while olfactory identification was negatively associated with right SFS volume. Our findings suggest that lifelong olfactory deprivation trigger changes in the cortical volume of prefrontal and limbic brain regions previously linked to olfactory memory....

  9. A three-year-old boy with X-linked adrenoleukodystrophy and congenital pulmonary adenomatoid malformation: a case report

    Directory of Open Access Journals (Sweden)

    Cakan Nedim

    2009-12-01

    Full Text Available Abstract Introduction X-linked adrenoleukodystrophy leads to demyelination of the nervous system, adrenal insufficiency, and accumulation of long-chain fatty acids. Most young patients with X-linked adrenoleukodystrophy develop seizures and progressive neurologic deficits, and die within the first two decades of life. Congenital or acquired disorders of the respiratory system have not been previously described in patients with X-linked adrenoleukodystrophy. Case presentation A 3-year-old Arabic boy from Yemen presented with discoloration of the mucous membranes and nail beds, which were considered cyanoses due to methemoglobinemia. He also had shortness of breath, fatigue, emesis and dehydration episodes for which he was admitted to our hospital. Chest radiograph and chest computed tomography scans showed congenital pulmonary adenomatoid malformation. A few weeks before the removal of the malformation, he had a significant episode of hypotension and hypoglycemia. This development required further in-hospital evaluation that led to the diagnosis of adrenal insufficiency and the initiation of treatment with corticosteroids. One year later, he developed seizures and loss of consciousness. Magnetic resonance imaging of his head showed diffuse demyelination secondary to X-linked adrenoleukodystrophy. He was treated with anti-seizure and anti-oxidants, and was referred for bone marrow transplant evaluation. Conclusion The presence of adrenal insufficiency, neurologic deficits and seizures are common manifestations of X-linked adrenoleukodystrophy. The association of congenital lung disease with X-linked adrenoleukodystrophy or Addison's disease has not been described previously.

  10. Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?

    Science.gov (United States)

    Kammoun, Molka; Brady, Paul; De Catte, Luc; Deprest, Jan; Devriendt, Koenraad; Vermeesch, Joris Robert

    2018-03-01

    Nance-Horan syndrome is a rare X-linked developmental disorder characterized by bilateral congenital cataract, dental anomalies, facial dysmorphism, and intellectual disability. Here, we identify a patient with Nance-Horan syndrome caused by a new nonsense NHS variant. In addition, the patient presented congenital diaphragmatic hernia. NHS gene expression in murine fetal diaphragm was demonstrated, suggesting a possible involvement of NHS in diaphragm development. Congenital diaphragmatic hernia could result from NHS loss of function in pleuroperitoneal fold or in somites-derived muscle progenitor cells leading to an impairment of their cells migration.

  11. Connexin mutants and cataracts

    Directory of Open Access Journals (Sweden)

    Eric C Beyer

    2013-04-01

    Full Text Available The lens is a multicellular, but avascular tissue that must stay transparent to allow normal transmission of light and focusing of it on the retina. Damage to lens cells and/or proteins can cause cataracts, opacities that disrupt these processes. The normal survival of the lens is facilitated by an extensive network of gap junctions formed predominantly of connexin46 and connexin50. Mutations of the genes that encode these connexins (GJA3 and GJA8 have been identified and linked to inheritance of cataracts in human families and mouse lines. In vitro expression studies of several of these mutants have shown that they exhibit abnormalities that may lead to disease. Many of the mutants reduce or modify intercellular communication due to channel alterations (including loss of function or altered gating or due to impaired cellular trafficking which reduces the number of gap junction channels within the plasma membrane. However, the abnormalities detected in studies of other mutants suggest that they cause cataracts through other mechanisms including gain of hemichannel function (leading to cell injury and death and formation of cytoplasmic accumulations (that may act as light scattering particles. These observations and the anticipated results of ongoing studies should elucidate the mechanisms of cataract development due to mutations of lens connexins and abnormalities of other lens proteins. They may also contribute to our understanding of the mechanisms of disease due to connexin mutations in other tissues.

  12. A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.

    Science.gov (United States)

    Tsurusaki, Yoshinori; Ohashi, Ikuko; Enomoto, Yumi; Naruto, Takuya; Mitsui, Jun; Aida, Noriko; Kurosawa, Kenji

    2017-01-01

    X-linked intellectual disability (ID) type Nascimento (MIM #300860), also known as ubiquitin-conjugating enzyme E2 A (UBE2A) deficiency syndrome, is a congenital malformation syndrome characterized by moderate to severe ID, speech impairment, dysmorphic facial features, genital anomalies and skin abnormalities. Here, we report a Japanese patient with severe ID and congenital cataract. We identified a novel hemizygous mutation (c.76G>A, p.Gly26Arg) in UBE2A by whole-exome sequencing.

  13. Aging and Health: Cataracts

    Science.gov (United States)

    ... Problems Glaucoma Macular Degeneration Join our e-newsletter! Aging & Health A to Z Cataracts Basic Facts & Information ... Are Cataracts? Cataracts are a common result of aging and occur frequently in older people. About one ...

  14. Catarata congênita: aspectos diagnósticos, clínicos e cirúrgicos em pacientes submetidos a lensectomia Congenital cataract: diagnostic, clinic and surgical features in patients submitted to lensectomy

    Directory of Open Access Journals (Sweden)

    Márcia Lima Santos Oliveira

    2004-12-01

    Full Text Available OBJETIVO: Estabelecer o perfil clínico-terapêutico e resultados cirúrgicos de crianças submetidas a lensectomia. MÉTODOS: Estudo retrospectivo de 89 olhos operados de 62 crianças do Setor de Catarata Congênita do Departamento de Oftalmologia da UNIFESP-EPM. RESULTADOS: Entre as 62 crianças, 30,64% apresentaram causa infecciosa, 19,36% genética e 50% idiopática. Estrabismo foi encontrado em 54,83% das crianças e 27,42% apresentaram alterações sistêmicas. Quanto às condições gestacionais, 22,58% das mães não realizaram adequadamente o pré-natal. Consangüinidade foi observada em 17,74% dos casais e catarata congênita em 9,68% dos familiares. A suspeita diagnóstica foi realizada pelas mães em 72,58% dos casos, sendo leucocoria o principal sinal. A idade da suspeita diagnóstica variou de imediatamente após o nascimento até 15 meses (média = 1,34 meses, ao passo que a idade de atendimento no serviço variou de 8 dias a 20 meses (média = 5,84 meses. Opacidade secundária de eixo visual foi a principal complicação cirúrgica, ocorrendo em 19,1% dos olhos operados. Com relação à adesão ao tratamento pós-operatório, 45,16% apresentaram dificuldades quanto ao uso de oclusivo, óculos ou colírios. CONCLUSÃO: A rubéola persiste como uma das principais causas de catarata congênita em nosso meio, sendo necessário maior atenção às medidas preventivas A suspeita diagnóstica inicial da catarata é realizada principalmente pelas mães (72,58% e até os 3 meses de idade (93,44% período ideal para a recuperação visual. Há, porém, demora considerável entre a suspeita e o atendimento no serviço especializado. A realização tardia da cirurgia, juntamente com insatisfatória adesão ao tratamento pós-cirúrgico, compromete os resultados visuais finais.PURPOSE: To analyze the clinical and therapeutic profiles of children with congenital cataract submitted to lensectomy. METHODS: Retrospective study of 89 eyes of 62

  15. Linking the Congenital Heart Surgery Databases of the Society of Thoracic Surgeons and the Congenital Heart Surgeons’ Society: Part 1—Rationale and Methodology

    Science.gov (United States)

    Jacobs, Jeffrey P.; Pasquali, Sara K.; Austin, Erle; Gaynor, J. William; Backer, Carl; Hirsch-Romano, Jennifer C.; Williams, William G.; Caldarone, Christopher A.; McCrindle, Brian W.; Graham, Karen E.; Dokholyan, Rachel S.; Shook, Gregory J.; Poteat, Jennifer; Baxi, Maulik V.; Karamlou, Tara; Blackstone, Eugene H.; Mavroudis, Constantine; Mayer, John E.; Jonas, Richard A.; Jacobs, Marshall L.

    2014-01-01

    Purpose The Society of Thoracic Surgeons Congenital Heart Surgery Database (STS-CHSD) is the largest Registry in the world of patients who have undergone congenital and pediatric cardiac surgical operations. The Congenital Heart Surgeons’ Society Database (CHSS-D) is an Academic Database designed for specialized detailed analyses of specific congenital cardiac malformations and related treatment strategies. The goal of this project was to create a link between the STS-CHSD and the CHSS-D in order to facilitate studies not possible using either individual database alone and to help identify patients who are potentially eligible for enrollment in CHSS studies. Methods Centers were classified on the basis of participation in the STS-CHSD, the CHSS-D, or both. Five matrices, based on CHSS inclusionary criteria and STS-CHSD codes, were created to facilitate the automated identification of patients in the STS-CHSD who meet eligibility criteria for the five active CHSS studies. The matrices were evaluated with a manual adjudication process and were iteratively refined. The sensitivity and specificity of the original matrices and the refined matrices were assessed. Results In January 2012, a total of 100 centers participated in the STS-CHSD and 74 centers participated in the CHSS. A total of 70 centers participate in both and 40 of these 70 agreed to participate in this linkage project. The manual adjudication process and the refinement of the matrices resulted in an increase in the sensitivity of the matrices from 93% to 100% and an increase in the specificity of the matrices from 94% to 98%. Conclusion Matrices were created to facilitate the automated identification of patients potentially eligible for the five active CHSS studies using the STS-CHSD. These matrices have a sensitivity of 100% and a specificity of 98%. In addition to facilitating identification of patients potentially eligible for enrollment in CHSS studies, these matrices will allow (1) estimation of

  16. New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism

    Energy Technology Data Exchange (ETDEWEB)

    Yanase, Toshihiko; Takayanagi, Ryoichi; Oba, Koichi [Kyushu Univ., Fukuoka (Japan)] [and others

    1996-02-01

    Congenital adrenal hypoplasia, an X-linked disorder, is characterized by primary adrenal insufficiency and frequent association with hypogonadotropic hypogonadism. The X-chromosome gene DAX-1 has been most recently identified and shown to be responsible for this disorder. We analyzed the DAX-1 genes of two unrelated Japanese patients with congenital adrenal hypoplasia and hypogonadotropic hypogonadism by using PCR amplification of genomic DNA and its complete exonic sequencing. In a family containing several affected individuals, the proband male patient had a stop codon (TGA) in place of tryptophan (TGG) at amino acid position 171. As expected, his mother was a heterozygous carrier for the mutation, whereas his father and unaffected brother did not carry this mutation. In another male patient with noncontributory family history, sequencing revealed a 1-bp (T) deletion at amino acid position 280, leading to a frame shift and, subsequently a premature stop codon at amino acid position 371. The presence of this mutation in the patients` genome was further confirmed by digestion of genomic PCR product with MspI created by this mutation. Family studies using MspI digestion of genomic PCR products revealed that neither parent of this individual carried the mutation. These results clearly indicate that congenital adrenal hypoplasia and hypogonadotropic hypogonadism result from not only inherited but also de novo mutation in the DAX-1 gene. 31 refs., 4 figs., 2 tabs.

  17. Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation

    NARCIS (Netherlands)

    Wolthuis, D.F.; Janssen, M.C.H.; Cassiman, D.; Lefeber, D.J.; Morava-Kozicz, E.

    2014-01-01

    Congenital disorders of N-glycosylation (CDG) form a rapidly growing group of more than 20 inborn errors of metabolism. Most patients are identified at the pediatric age with multisystem disease. There is no systematic review on the long-term outcome and clinical presentation in adult patients.

  18. Clinical Value of Specific Immunoglobulin E Detection by Enzyme-Linked Immunosorbent Assay in Cases of Acquired and Congenital Toxoplasmosis

    Science.gov (United States)

    Foudrinier, F.; Villena, I.; Jaussaud, R.; Aubert, D.; Chemla, C.; Martinot, F.; Pinon, J. M.

    2003-01-01

    The clinical value of immunoenzymatic (enzyme-linked immunosorbent assay) detection of anti-Toxoplasma immunoglobulin E (IgE) was assessed by studying 2,036 sera from 792 subjects, comprising seronegative controls and subjects with acute, active, reactivated, or congenital toxoplasmosis. Included were nonimmunized adults; pregnant women with recently acquired infection (acute toxoplasmosis); immunocompetent subjects with recently acquired severe infection (active toxoplasmosis) expressed as fever, adenopathies, splenomegaly, pneumonia, meningitis, or disseminated infection; subjects—some of them immunocompromised—whose previously moderate IgG antibody levels rose, suggesting a reactivation of quiescent toxoplasmosis; and infants born to seroconverted mothers and evaluated for diagnosis of congenital infection and therapeutic management. Specific IgE antibodies were never detected in seronegative subjects. They were present in 85.7% of asymptomatic seroconverters and in 100% of seroconverters with overt toxoplasmosis, following two different kinetics: in the former, the specific IgE titer generally presented a brief peak 2 to 3 months postinfection and then fell rapidly, whereas specific IgE persisted at a very high titer for several months in the latter. IgE emerged concomitantly with the increase in IgG during toxoplasmic reactivation. For neonatal diagnosis of congenital toxoplasmosis, IgE was less informative than IgM and IgA (sensitivities, 59.5, 64.3, and 76.2%, respectively) and had a specificity of 91.9%. Nevertheless, simultaneous measurement of the three isotypes at birth improved the diagnostic yield to 81% relative to the combination of IgA and IgM. Emergence of specific IgE during postnatal treatment for congenital toxoplasmosis is a sign of poor adherence or inadequate dosing. PMID:12682160

  19. [Rehabilitation methods for children with complicated cataract].

    Science.gov (United States)

    Ivanov, G; Cuşnir, V; Septichina, Natalia; Cuşnir, Vitalie

    2010-01-01

    The work deals with the results of surgical treatment of 155 patients, who had uveal cataract, by method of facoemulsification with artificial crystalline lens transplanting. The age of the sick varied from 3 to 15 as a result of a complex treatment, involving determination of ethnic factor in the development of uveal cataract, before- and after-operation conservative medical treatment, surgical treatment of abscuration ambliopia 78.1% children and the keenness of sight 0.4 and 68.7% got binocularious sight. The study lot of posttraumatic cataract affected children included 189 patients, from them 68 with stationary cataract, 87 with intumescent cataract and 34 with postoperatorial aphakia. Age from 2 to 15 years. 76.3% cases of evolution without postoperatorial complications, in 13.7% intraoperatorial were observed different complications. The work presents the results of surgical treatment 196 of children, who had innate cataract, by the method of facoasoriation with soft intra-eyepiece lens transplanting from 133 patients who had two-sided cataract, 63 had monolateral cataract. All children underwent laser simulation and videocomputer auto-training in post-operation period. As a result of the treatment, 66.8% patients got the amelioration of sight with 0.4, and 58% got binocular sight. The children's age varied between 6 months and 15 years. This article presents a review of the treatment results of 213 children with posttraumatic, congenital and complicated cataracts. The rehabilitation of the patients with the lens pathology includes a complex of measures of early diagnosis, surgery, optimal correction, medical treatment before and after surgery, the prophilaxis and treatment of complications. This approach permits to increase the visual acuity in 83.8% and to restore the binocular vision in 71.4% patients.

  20. A link between solar events and congenital malformations: Is ionizing radiation enough to explain it?

    Science.gov (United States)

    Overholt, Andrew C.; Melott, Adrian L.; Atri, Dimitra

    2015-03-01

    Cosmic rays are known to cause biological effects directly and through ionizing radiation produced by their secondaries. These effects have been detected in airline crews and other specific cases where members of the population are exposed to above average secondary fluxes. Recent work has found a correlation between solar particle events and congenital malformations. In this work we use the results of computational simulations to approximate the ionizing radiation from such events as well as longer-term increases in cosmic ray flux. We find that the amounts of ionizing radiation produced by these events are insufficient to produce congenital malformations under the current paradigm regarding muon ionizing radiation. We believe that further work is needed to determine the correct ionizing radiation contribution of cosmogenic muons. We suggest that more extensive measurements of muon radiation effects may show a larger contribution to ionizing radiation dose than currently assumed.

  1. Implante intra-ocular de lentes dobráveis "piggyback" em paciente portador de catarata congênita no primeiro ano de vida: relato de caso Piggyback foldable intraocular lens implant in patient with congenital cataract in the first year of life: case report

    Directory of Open Access Journals (Sweden)

    Leonardo Akaishi

    2004-12-01

    Full Text Available No presente relato os autores descrevem um caso de catarata congênita unilateral tratada cirurgicamente com implante intra-ocular de lentes dobráveis "piggyback", ainda não descrito na literatura nacional. São analisadas as diferenças e semelhanças com outros casos descritos na literatura.The authors report a case of congenital cataract, which was treated with piggyback foldable intraocular lens implant, not described in the Brazilian literature. The differences and similarities are analyzed with other reported cases in the literature.

  2. Linking the Congenital Heart Surgery Databases of the Society of Thoracic Surgeons and the Congenital Heart Surgeons’ Society: Part 2—Lessons Learned and Implications

    Science.gov (United States)

    Jacobs, Jeffrey P.; Pasquali, Sara K.; Austin, Erle; Gaynor, J. William; Backer, Carl; Hirsch-Romano, Jennifer C.; Williams, William G.; Caldarone, Christopher A.; McCrindle, Brian W.; Graham, Karen E.; Dokholyan, Rachel S.; Shook, Gregory J.; Poteat, Jennifer; Baxi, Maulik V.; Karamlou, Tara; Blackstone, Eugene H.; Mavroudis, Constantine; Mayer, John E.; Jonas, Richard A.; Jacobs, Marshall L.

    2014-01-01

    Purpose A link has been created between the Society of Thoracic Surgeons Congenital Heart Surgery Database (STS-CHSD) and the Congenital Heart Surgeons’ Society Database (CHSS-D). Five matrices have been created that facilitate the automated identification of patients who are potentially eligible for the five active CHSS studies using the STS-CHSD. These matrices are now used to (1) estimate the denominator of patients eligible for CHSS studies and (2) compare “eligible and enrolled patients” to “potentially eligible and not enrolled patients” to assess the generalizability of CHSS studies. Methods The matrices were applied to 40 consenting institutions that participate in both the STS-CHSD and the CHSS to (1) estimate the denominator of patients that are potentially eligible for CHSS studies, (2) estimate the completeness of enrollment of patients eligible for CHSS studies among all CHSS sites, (3) estimate the completeness of enrollment of patients eligible for CHSS studies among those CHSS institutions participating in each CHSS cohort study, and (4) compare “eligible and enrolled patients” to “potentially eligible and not enrolled patients” to assess the generalizability of CHSS studies. The matrices were applied to all participants in the STS-CHSD to identify patients who underwent frequently performed operations and compare “eligible and enrolled patients” to “potentially eligible and not enrolled patients” in following five domains: (1) age at surgery, (2) gender, (3) race, (4) discharge mortality, and (5) postoperative length of stay. Completeness of enrollment was defined as the number of actually enrolled patients divided by the number of patients identified as being potentially eligible for enrollment. Results For the CHSS Critical Left Ventricular Outflow Tract Study (LVOTO) study, for the Norwood procedure, completeness of enrollment at centers actively participating in the LVOTO study was 34%. For the Norwood operation

  3. Cataract surgery in Knobloch syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Bongiovanni CS

    2011-06-01

    Full Text Available Carmen Sílvia Bongiovanni1, Carla Cristina Serra Ferreira1, Ana Paula Silvério Rodrigues1, João Borges Fortes Filho2, Márcia Beatriz Tartarella11Department of Ophthalmology, Congenital Cataract Section, Medical School, Federal University of São Paulo, São Paulo; 2Department of Ophthalmology, Medical School, Federal University of Rio Grande do Sul, Porto Alegre, BrazilAbstract: Knobloch syndrome is an autosomal recessive disorder associated with early-onset ocular abnormalities and central nervous system malformations. Ocular abnormalities are usually severe, and include high myopia, vitreoretinal degeneration, retinal detachment, macular abnormalities, and cataract. The most frequent systemic changes are midline malformations of the brain, ventricular dilation, and occipital encephalocele. Cognitive delay may occur. We report a case of cataract in a child with Knobloch syndrome. Cataract surgery and follow-up are described.Keywords: Knobloch syndrome, cataract, phacoemulsification, vitreous, right eye, left eye, genetic

  4. Ultrasonographic findings of cataract

    International Nuclear Information System (INIS)

    Choi, Sun Seob; Kim, Yang Soo; Lee, Kwan Seh; Kim, Kun Sang

    1985-01-01

    Examining the eye with high resolution ultrasonography, authors encountered 34 cases (41 eyeballs) of cataract and found out its characteristic ultrasonographic findings, though cataract is easily recognized by physician on inspection. Ultrasonographic findings of cataract were as follows; 1. Thickening of lens due to edema. 2. Demonstration of lens echo in whole circumference. 3. Multiple internal lens echo

  5. Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB).

    Science.gov (United States)

    Berger, W; van Duijnhoven, G; Pinckers, A; Smits, A; Ropers, H H; Cremers, F

    1995-01-01

    Linkage analysis has been performed in a large Dutch pedigree with X-linked recessive congenital stationary night blindness (CSNB) by utilizing 16 DNA markers from the proximal short arm of the human X chromosome (Xp21.1-11.2). Thirteen polymorphic markers are at least partially informative and have enabled pairwise and multipoint linkage analysis. For three loci, i.e. DXS228, the monoamine oxidase B gene and the Norrie disease gene (NDG), multipoint linkage studies have yielded maximum lod scores of > 3.0 at a recombination fraction of zero. Analysis of recombination events has enabled us to rule out the possibility that the underlying defect in this family is allelic to RP3; the gene defect could also be excluded from the proximal part of the region known to carry RP2. Linkage data are consistent with a possible involvement of the NDG but mutations in the open reading frame of this gene have not been found.

  6. Congenital Sodium Diarrhea: A Form of Intractable Diarrhea, With a Link to Inflammatory Bowel Disease.

    Science.gov (United States)

    Janecke, Andreas R; Heinz-Erian, Peter; Müller, Thomas

    2016-08-01

    Congenital diarrheal disorders (CDDs) represent a group of challenging clinical conditions for pediatricians because of the severity of the presentation and the broad range of possible differential diagnoses. CDDs arise from alterations in the transport of nutrients and electrolytes across the intestinal mucosa, from enterocyte and enteroendocrine cell differentiation and/or polarization defects, and from the modulation of the intestinal immune response. Advances were made recently in deciphering the etiology and pathophysiology of one of these disorders, congenital sodium diarrhea (CSD). CSD refers to an intractable diarrhea of intrauterine onset with high fecal sodium loss. CSD is clinically and genetically heterogeneous. A syndromic form of CSD features choanal and intestinal atresias as well as recurrent corneal erosions. Small bowel histology frequently detects an epithelial "tufting" dysplasia. It is autosomal recessively inherited, and caused by SPINT2 mutations. The nonsyndromic form of CSD can be caused by dominant activating mutations in GUCY2C, encoding intestinal receptor guanylate cyclase C (GC-C), and by autosomal recessive SLC9A3 loss-of-function mutations. SLC9A3 encodes Na/H antiporter 3, the major intestinal brush border Na/H exchanger, and a downstream target of GC-C. A number of patients with GUCY2C and SLC9A3 mutations developed inflammatory bowel disease. Both the number of recognized CDD forms as well as the number of underlying disease genes are gradually increasing. Knowledge of these CDD genes enables noninvasive, next-generation gene panel-based testing to facilitate an early diagnosis in CDD. Primary Na/H antiporter 3 and GC-C malfunction is implicated as a predisposition for inflammatory bowel disease in subset of patients.

  7. Autophagy and UPR in alpha-crystallin mutant knock-in mouse models of hereditary cataracts.

    Science.gov (United States)

    Andley, Usha P; Goldman, Joshua W

    2016-01-01

    Knock-in mice provide useful models of congenital and age-related cataracts caused by α-crystallin mutations. R49C αA-crystallin and R120G αB-crystallin mutations are linked with hereditary cataracts. Knock-in αA-R49C+/- heterozygotes develop cataracts by 1-2months, whereas homozygote mice have cataracts at birth. The R49C mutation drastically reduces lens protein water solubility and causes cell death in knock-in mouse lenses. Mutant crystallin cannot function as a chaperone, which leads to protein aggregation and lens opacity. Protein aggregation disrupts the lens fiber cell structure and normal development and causes cell death in epithelial and fiber cells. We determined what aspects of the wild-type phenotype are age-dependently altered in the mutant lens. Wild-type, heterozygote (αA-R49C+/-), and homozygote (αA-R49C+/+) mouse lenses were assessed pre- and postnatally for lens morphology (electron microscopy, immunohistochemistry), and autophagy or unfolded protein response markers (immunoblotting). Morphology was altered by embryonic day 17 in R49C+/+ lenses; R49C+/- lens morphology was unaffected at this stage. Active autophagy in the lens epithelium of mutant lenses was indicated by the presence of autophagosomes using electron microscopy. Protein p62 levels, which are degraded specifically by autophagy, increased in αA-R49C mutant versus wild-type lenses, suggesting autophagy inhibition in the mutant lenses. The unfolded protein response marker XBP-1 was upregulated in adult lenses of αB-R120G+/+ mice, suggesting its role in lens opacification. Mutated crystallins alter lens morphology, autophagy, and stress responses. Therapeutic modulation of autophagic pathways may improve protein degradation in cataractous lenses and reduce lens opacity. This article is part of a Special Issue entitled Crystallin Biochemistry in Health and Disease. Copyright © 2015 Elsevier B.V. All rights reserved.

  8. Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region

    NARCIS (Netherlands)

    Bergen, A. A.; ten Brink, J. B.; Riemslag, F.; Schuurman, E. J.; Tijmes, N.

    1995-01-01

    X-linked congenital stationary night blindness (CSNBX) is a non-progressive retinal disorder characterized by decreased visual acuity and loss of night vision. CSNBX is clinically heterogeneous with respect to the involvement of retinal rods and/or cones in the disease. In this study, we localize a

  9. Structural brain changes linked to delayed first language acquisition in congenitally deaf individuals.

    Science.gov (United States)

    Pénicaud, Sidonie; Klein, Denise; Zatorre, Robert J; Chen, Jen-Kai; Witcher, Pamela; Hyde, Krista; Mayberry, Rachel I

    2013-02-01

    Early language experience is essential for the development of a high level of linguistic proficiency in adulthood and in a recent functional Magnetic Resonance Imaging (fMRI) experiment, we showed that a delayed acquisition of a first language results in changes in the functional organization of the adult brain (Mayberry et al., 2011). The present study extends the question to explore if delayed acquisition of a first language also modulates the structural development of the brain. To this end, we carried out anatomical MRI in the same group of congenitally deaf individuals who varied in the age of acquisition of a first language, American Sign Language -ASL (Mayberry et al., 2011) and used a neuroanatomical technique, Voxel-Based Morphometry (VBM), to explore changes in gray and white matter concentrations across the brain related to the age of first language acquisition. The results show that delayed acquisition of a first language is associated with changes in tissue concentration in the occipital cortex close to the area that has been found to show functional recruitment during language processing in these deaf individuals with a late age of acquisition. These findings suggest that a lack of early language experience affects not only the functional but also the anatomical organization of the brain. Copyright © 2012 Elsevier Inc. All rights reserved.

  10. Cataract surgery practices in the United States Veterans Health Administration.

    Science.gov (United States)

    Havnaer, Annika G; Greenberg, Paul B; Cockerham, Glenn C; Clark, Melissa A; Chomsky, Amy

    2017-04-01

    To describe current cataract surgery practices within the United States Veterans Health Administration (VHA). Veterans Health Administration hospitals in the U.S. Retrospective data analysis. An initial e-mail containing a link to an anonymous 32-question survey of cataract surgery practices was sent to participants in May 2016. Two reminder e-mails were sent to nonresponders 1 week and 2 weeks after the initial survey was sent; the remaining nonresponders were called twice over a 2-week period. The data were analyzed using descriptive statistics. The response rate was 75% (67/89). Cataract surgeons routinely ordered preoperative testing in 29 (45%) of 65 sections and preoperative consultations in 26 (39%) of 66 sections. In 22 (33%) of 66 sections, cataract surgeons administered intracameral antibiotics. In 61 (92%) of 66 sections, cataract surgeons used toric intraocular lenses (IOLs). In 20 (30%) of 66 sections, cataract surgeons used multifocal IOLs. Cataract surgeons in 6 (9%) of 66 sections performed femtosecond laser-assisted cataract surgery. In 6 (9%) of 66 sections, cataract surgeons performed immediate sequential bilateral cataract surgery. Forty-nine (74%) ophthalmology chiefs reported a high level of satisfaction with Veterans Affairs ophthalmology. The survey results indicate that in cataract surgery in the VHA, routine preoperative testing is commonly performed and emerging practices, such as femtosecond laser-assisted cataract surgery and immediate sequential bilateral cataract surgery, have limited roles. The results of this survey could benchmark future trends in U.S. cataract surgery practices, especially in teaching hospital settings. Copyright © 2017 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

  11. Cataract Surgery in Anterior Megalophthalmos: A Review

    Science.gov (United States)

    GALVIS, Virgilio; TELLO, Alejandro; M. RANGEL, Carlos

    2015-01-01

    Anterior megalophthalmos is characterized by megalocornea associated with a very broad anterior chamber and ciliary ring elongation. It is also called X-linked megalocornea. It is accompanied by early development of cataracts, zonular anomalies, and, rarely, vitreoretinal disorders. Subluxation of a cataract can occur in cataract surgery because of zonular weakness. In addition, in most patients, standard intraocular lens (IOL) decentration is a risk because of the enlarged sulcus and capsular bag. These unique circumstances make cataract surgery challenging. To date, several approaches have been developed. Implantation of a retropupillary iris-claw aphakic intraocular lens may be a good option because it is easier than suturing the IOL and can have better and more stable anatomic and visual outcomes, compared to other techniques. PMID:27350950

  12. A CLINICAL STUDY AND MANAGEMENT OF PAEDIATRIC CATARACT, OUR EXPERIENCE

    Directory of Open Access Journals (Sweden)

    Satish D. Shet

    2017-09-01

    Full Text Available BACKGROUND Control of childhood blindness is one of the priorities identified for achieving the goals of Vision-2020 by WHO. This is considered a priority because blind-years (number of years that a blind person lives after going blind due to childhood blindness are second only to cataract and half of childhood blindness is avoidable (treatable/preventable. Paediatric cataract accounts for 12% of the 1.4 million blind children globally. The prevalence of childhood cataract has been reported as 1 to 15 cases in 10,000 children in developing countries. Compared to industrialised countries, this figure is 10 times higher. Early detection and timely treatment of various childhood disorders such as congenital cataract are the most crucial factors for successful outcome. A suitable measure to address amblyopia and posterior capsule opacification post operatively is imperative for successful visual rehabilitation of such children. The objectives of this study were- 1 To study the clinical profile of paediatric cataract. 2 To evaluate the visual outcome after cataract surgery in these patients. 3 To evaluate different causes of visual impairment following management. MATERIALS AND METHODS A prospective study conducted at Karnataka institute of medical sciences department of ophthalmology from October 2015 to September 2016. All children below 14 years of age presenting with cataract will undergo thorough ophthalmologic examination and cataract surgery. RESULTS The results of the present study with 25 paediatric patients (36 eyes indicates that excellent vision can be expected after cataract surgery and posterior chamber IOL implantation coupled with appropriate amblyopia therapy. CONCLUSION The paediatric cataract patients are referred from primary health centers, and district hospital from north Karnataka to KIMS Hubli. All paediatric patients are from lower socio economic status. Early detection of cataracts and referrals to the ophthalmologist can

  13. The lens and cataracts.

    Science.gov (United States)

    Matthews, Andrew G

    2004-08-01

    It is conservatively estimated that some form of lens opacity is present in 5% to 7% of horses with otherwise clinically normal eyes.These opacities can range from small epicapsular remnants of the fetal vasculature to dense and extensive cataract. A cataract is defined technically as any opacity or alteration in the optical homogeneity of the lens involving one or more of the following: anterior epithelium, capsule, cortex, or nucleus. In the horse, cataracts rarely involve the entire lens structure (ie, complete cataracts) and are more usually localized to one anatomic landmark or sector of the lens. Complete cataracts are invariably associated with overt and significant visual disability. Focal or incomplete cataracts alone seldom cause any apparent visual dysfunction in affected horses,however.

  14. impairs gap junction function causing congenital cataract

    Indian Academy of Sciences (India)

    Navya

    2017-03-24

    Mar 24, 2017 ... ... applied to analyze the expression and subcellular localization of recombinant ... Cx46. The fluorescent localization assay revealed the plaque formation ... composed of six trans-membrane protein subunits called connexins ...

  15. Anophthalmia and congenital cataract: case report

    OpenAIRE

    Santana, Alessandro; Koller, Karine; Waiswol, Mauro

    2005-01-01

    Apresentação de um caso de anoftalmia e catarata congênita associada a malformações sistêmicas. Paciente, 6 meses, do sexo masculino, com anoftalmia à esquerda e catarata congênita polar posterior à direita. Instituiu-se terapêutica cirúrgica por meio de aspiração do núcleo e córtex com pequena incisão sem implante de lente intra-ocular, e capsulorrexe posterior com vitrectomia. A associação entre anoftalmia e catarata congênita é condição rara em que o diagnóstico e tratamento precoces são f...

  16. impairs gap junction function causing congenital cataract

    Indian Academy of Sciences (India)

    Navya

    2017-03-24

    Mar 24, 2017 ... experiment showed a lower dye diffusion distance of Cx46 V44M cells, ... Studies of connexins show that channel gating and permeability .... have found that connexin assembled into gap junction plaques is not soluble in 1% ..... high glucose reduces gap junction activity in microvascular endothelial cells.

  17. impairs gap junction function causing congenital cataract

    Indian Academy of Sciences (India)

    LIJUAN CHEN

    2017-12-20

    Dec 20, 2017 ... showed a lower dye diffusion distance of Cx46 V44M cells, which indicates that the gap junction intercellular ... permeability could be affected by alterations of charged residues of .... bled into gap junction plaques is not soluble in 1% Triton ..... regulation of connexin 43 expression by high glucose reduces.

  18. A novel AVPR2 gene mutation of X-linked congenital nephrogenic diabetes insipidus in an Asian pedigree.

    Science.gov (United States)

    Guo, Wei-Hong; Li, Qiang; Wei, Hong-Yan; Lu, Hong-Yan; Qu, Hui-Qi; Zhu, Mei

    2016-10-01

    Polyuria and polydipsia are the characteristics of congenital nephrogenic diabetes insipidus (CNDI). Approximately 90% of all patients with CNDI have X-linked hereditary disease, which is due to a mutation of the arginine vasopressin receptor 2 ( AVPR2) gene. This case report describes a 54-year-old male with polyuria and polydipsia and several male members of his pedigree who had the same symptoms. The proband was diagnosed with diabetes insipidus using a water-deprivation and arginine vasopressin stimulation test. Genomic DNA from the patient and his family members was extracted and the AVPR2 gene was sequenced. A novel missense mutation of a cytosine to guanine transition at position 972 (c.972C > G) was found, which resulted in the substitution of isoleucine for methionine at amino acid position 324 (p.I324M) in the seventh transmembrane domain of the protein. The proband's mother and daughter were heterozygous for this mutation. The novel mutation of the AVPR2 gene further broadens the phenotypic spectrum of the AVPR2 gene.

  19. Anesthetic management of cardiac patient for cataract surgery

    International Nuclear Information System (INIS)

    Farooq, F.B.; Sultan, S.T.

    2003-01-01

    We are reporting the successful anesthetic management of a 6 years old child, who had cyanotic congenital heart disease and underwent an operation for cataract extraction. Ketamine was used for the induction and maintenance of anesthesia. Ventilation was assisted manually by using laryngeal masks. (author)

  20. Improving Information on Maternal Medication Use by Linking Prescription Data to Congenital Anomaly Registers : A EUROmediCAT Study

    NARCIS (Netherlands)

    de Jonge, Linda; Garne, Ester; Gini, Rosa; Jordan, Susan E.; Klungsoyr, Kari; Loane, Maria; Neville, Amanda J.; Pierini, Anna; Puccini, Aurora; Thayer, Daniel S.; Tucker, David; Hansen, Anne Vinkel; Bakker, Marian K.

    2015-01-01

    Research on associations between medication use during pregnancy and congenital anomalies is significative for assessing the safe use of a medicine in pregnancy. Congenital anomaly (CA) registries do not have optimal information on medicine exposure, in contrast to prescription databases. Linkage of

  1. Atomic bomb cataracts

    International Nuclear Information System (INIS)

    Shiraeda, Kanji

    1992-01-01

    Eye disturbance caused by atomic bomb radiation can be divided into three groups: direct injury immediately after exposure, eye lesions associated with radiation syndrome, and delayed disturbance. The crystalline lens of the eye is the most radiosensitive. Atomic bomb cataract has been investigated in a number of studies. The first section of this chapter discusses radiation cataract in terms of the incidence and characteristics. The second section deals with atomic bomb cataract, which can be diagnosed based on the four criteria: (1) opacity of the crystalline lens, (2) a history of proximal exposure, (3) lack of eye disease complicating cataract, and (4) non-exposure to radiation other than atomic bombing. The prevalence of cataract and severity of opacity are found to correlate with exposure doses and age at the time of exposure. Furthermore, it is found to correlate with distance from the hypocenter, the condition of shielding, epilation, and the presence or absence or degree of radiation syndrome. (N.K.)

  2. Cataract Surgery in Uveitis

    Directory of Open Access Journals (Sweden)

    Rupesh Agrawal

    2012-01-01

    Full Text Available Cataract surgery in uveitic eyes is often challenging and can result in intraoperative and postoperative complications. Most uveitic patients enjoy good vision despite potentially sight-threatening complications, including cataract development. In those patients who develop cataracts, successful surgery stems from educated patient selection, careful surgical technique, and aggressive preoperative and postoperative control of inflammation. With improved understanding of the disease processes, pre- and perioperative control of inflammation, modern surgical techniques, availability of biocompatible intraocular lens material and design, surgical experience in performing complicated cataract surgeries, and efficient management of postoperative complications have led to much better outcome. Preoperative factors include proper patient selection and counseling and preoperative control of inflammation. Meticulous and careful cataract surgery in uveitic cataract is essential in optimizing the postoperative outcome. Management of postoperative complications, especially inflammation and glaucoma, earlier rather than later, has also contributed to improved outcomes. This manuscript is review of the existing literature and highlights the management pearls in tackling complicated cataract based on medline search of literature and experience of the authors.

  3. Implante de lente intraocular en niños como solución a los problemas sociales de la ceguera por catarata congénita Intraocular lens implants for children as a solution to social problems caused by blindness from congenital cataract

    Directory of Open Access Journals (Sweden)

    Rosa María Naranjo Fernández

    2011-12-01

    congenital cataract ranges from 1 to 4 per 10 000 children in underdeveloped countries and 0,1 to 0,4 in industrialized countries. In Cuba, 2,1 million inhabitants are under 15 years of age and the congenital cataract is regarded as the second cause of infantile blindness. In the last 20 years, the surgical treatment of cataract in children has completely changed based on the remarkable improvement of the surgical techniques. In our country, the pediatric cataract surgery with intraocular lens implantation began in 1990 after the inauguration of the Ocular Microsurgery Center in 1988. The importance of this pediatric cataract surgery with intraocular lens implants was shown as a solution to the social problems caused by the visual deficit of inadequately treated patients, since the application of modern technology improves the quality of life of children both at social and educational level, and allows fully re-inserting them into the society.

  4. Viscoless microincision cataract surgery

    Directory of Open Access Journals (Sweden)

    Guy Sallet

    2008-06-01

    Full Text Available Guy SalletDepartment of Opthamology, Aalsters Stedelijk Ziekenhuis, BelgiumAbstract: A cataract surgery technique is described in which incisions, continuous circular capsulorhexis and hydrodissection are made without the use of any viscoelastics. Two small incisions are created through which the different parts of the procedure can take place, maintaining a stable anterior chamber under continuous irrigation. Subsequent bimanual phacoemulsification can be done through these microincisions. At the end of the procedure, an intraocular lens can be inserted through the self-sealing incision under continuous irrigation. 50 consecutive cataract patients were operated on without the use of viscoelastics and then compared with a group of 50 patients who had been helped with viscoelastics. No difference in outcome, endothelial cell count or pachymetry was noted between the two groups. No intraoperative complication was encountered. Viscoless cataract surgery was a safe procedure with potential advantages.Keywords: ophthalmic visco-surgical device, viscoless cataract surgery, microincision

  5. Mutation in rod PDE6 linked to congenital stationary night blindness impairs the enzyme inhibition by its gamma-subunit.

    Science.gov (United States)

    Muradov, Khakim G; Granovsky, Alexey E; Artemyev, Nikolai O

    2003-03-25

    Photoreceptor cGMP phosphodiesterase (PDE6) is the effector enzyme in the vertebrate visual transduction cascade. The activity of rod PDE6 catalytic alpha- and beta-subunits is blocked in the dark by two inhibitory Pgamma-subunits. The inhibition is released upon light-stimulation of photoreceptor cells. Mutation H258N in PDE6beta has been linked to congenital stationary night blindness (CSNB) in a large Danish family (Rambusch pedigree) (Gal, A., Orth, U., Baehr, W., Schwinger, E., and Rosenberg, T. (1994) Nat. Genet. 7, 64-67.) We have analyzed the consequences of this mutation for PDE6 function using a Pgamma-sensitive PDE6alpha'/PDE5 chimera, Chi16. Biochemical analysis of the H257N mutant, an equivalent of PDE6betaH258N, demonstrates that this substitution does not alter the ability of chimeric PDE to dimerize or the enzyme's catalytic properties. The sensitivity of H257N to a competitive inhibitor zaprinast was also unaffected. However, the mutant displayed a significant impairment in the inhibitory interaction with Pgamma, which was apparent from a approximately 20-fold increase in the K(i) value (46 nM) and incomplete maximal inhibition. The inhibitory defect of H257N is not due to perturbation of noncatalytic cGMP binding to the PDE6alpha' GAF domains. The noncatalytic cGMP-binding characteristics of the H257N mutant were similar to those of the parent PDE6alpha'/PDE5 chimera. Since rod PDE6 in the Rambusch CSNB is a catalytic heterodimer of the wild-type PDE6alpha and mutant PDE6beta, Chi16 and H257N were coexpressed, and a heterodimeric PDE, Chi16/H257N, was isolated. It displayed two Pgamma inhibitory sites with the K(i) values of 5 and 57 nM. Our results support the hypothesis that mutation H258N in PDE6beta causes CSNB through incomplete inhibition of PDE6 activity by Pgamma, which leads to desensitization of rod photoreceptors.

  6. Mortality after endophthalmitis following contemporary phacoemulsification cataract surgery.

    Science.gov (United States)

    Crosby, Niall; Polkinghorne, Philip J; Kim, Bia; McGhee, Charles; Welch, Sarah; Riley, Andrew

    2018-04-24

    To determine if endophthalmitis following cataract surgery is linked to increased mortality. Increased mortality has been linked to patients with cataract and cataract surgery. We tested the hypothesis that post-cataract endophthalmitis has a greater risk of death than pseudophakes who do not develop this complication. Case-control study conducted in a tertiary public hospital. The study group comprised 50 consecutive patients with post-cataract endophthalmitis, and these were matched with selected controls. Patients with endophthalmitis following cataract surgery were identified from a prospective electronic surgical database. Subsequently, it was determined if the patient was deceased at the time of sequestration (September 2015), and the date of death was recorded. A previously described population who had undergone cataract surgery in the same facility was selected as a control group, and the population was case-matched in terms age, gender, presence or absence of diabetes and/or hypertension. The median survival rates were determined for the control group and the patients with post-cataract endophthalmitis. Fifty patients were identified as undergoing endophthalmitis post-cataract surgery, and 48 (n = 48) met inclusion criteria (mean age 72 years ±12 SD with 30:18 F:M); 17% were diabetic, and 50% had systemic hypertension. No statistically significant difference in median survival between the study and control cases was identified (100 months (95% confidence interval 86-114) vs. 106 months (95% confidence interval 66-146), respectively, P = 0.756). Post-cataract endophthalmitis was not associated with an increased rate of mortality in this study. © 2018 Royal Australian and New Zealand College of Ophthalmologists.

  7. Genetics Home Reference: severe congenital neutropenia

    Science.gov (United States)

    ... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ... Genetic Testing Registry: Severe congenital neutropenia 2, autosomal dominant Genetic Testing Registry: Severe congenital neutropenia 3, autosomal ...

  8. JS-X syndrome: A multiple congenital malformation with vocal cord paralysis, ear deformity, hearing loss, shoulder musculature underdevelopment, and X-linked recessive inheritance.

    Science.gov (United States)

    Hoeve, Hans L J; Brooks, Alice S; Smit, Liesbeth S

    2015-07-01

    We report on a family with a not earlier described multiple congenital malformation. Several male family members suffer from laryngeal obstruction caused by bilateral vocal cord paralysis, outer and middle ear deformity with conductive and sensorineural hearing loss, facial dysmorphisms, and underdeveloped shoulder musculature. The affected female members only have middle ear deformity and hearing loss. The pedigree is suggestive of an X-linked recessive inheritance pattern. SNP-array revealed a deletion and duplication on Xq28 in the affected family members. A possible aetiology is a neurocristopathy with most symptoms expressed in structures derived from branchial arches. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  9. The association of congenital neuroblastoma and congenital heart disease

    International Nuclear Information System (INIS)

    Bellah, R.; D'Andrea, A.; Children's Hospital, Boston, MA; Darillis, E.; Fellows, K.E.

    1989-01-01

    Several authors have reported an association between neuroblastoma and congenital heart disease; others contend that, unlike specific wellknown associations between malignancy and congenital defects (Wilm's tumor and aniridia, leukemia and Down's syndrome), no real relationship exists. We present three cases of cyanotic congenital heart disease in which subclinical neuroblastoma was found. We speculate that abnormal neural crest cell migration and development may be a common link between cardiac malformations and congenital neuroblastoma. (orig.)

  10. Cataracts in New World camelids (llamas, alpacas, vicuñas, and guanacos).

    Science.gov (United States)

    Gionfriddo, Juliet R

    2002-05-01

    Cataracts are the most frequently seen lens diseases in New World camelids. The causes of cataracts are unknown in many animals, but cataracts secondary to intraocular inflammation seem to be common. Congenital or juvenile-onset cataracts, if another cause is not apparent, should be considered as possibly caused by heredity, and the affected animals should not be bred. Persistent hyaloid vascular anomalies may also have an important role in cataract formation and could be heritable or caused by an in utero disturbance. Pedigree analyses, test breedings, and possibly DNA studies of llamas with cataracts will be required to determine their potential heritability in these species. Cataract surgery can be done successfully in camelids. It is important to evaluate the posterior segment with B scan ultrasonography before surgery in animals in which the posterior segment previously has not been seen. This evaluation allows the surgeon to better prepare for the presence of hyaloid vascular anomalies. Use of phacoemulsification, gentle tissue handling, liberal use of anti-inflammatory medications and endothelial protectants (BSS + and viscoelastics) during surgery has increased the success rate of this surgery in camelids. Unlike cataract surgery in dogs and horses undergoing, cataract surgery, in camelids seems to be important to remove much of the posterior lens capsule. This removal prevents severe capsular fibrosis and subsequent vision loss. There is evidence that a posterior capsulectomy and anterior viterectomy can help prevent postoperative glaucoma. Research needs to be done to see whether these species have an increased risk for ciliary-block glaucoma.

  11. Efficient linking of birth certificate and newborn screening databases for laboratory investigation of congenital cytomegalovirus infection and preterm birth: Florida, 2008.

    Science.gov (United States)

    DePasquale, John M; Freeman, Karen; Amin, Minal M; Park, Sohyun; Rivers, Samantha; Hopkins, Richard; Cannon, Michael J; Dy, Bonifacio; Dollard, Sheila C

    2012-02-01

    The objectives of this study are (1) to design an accurate method for linking newborn screening (NBS) and state birth certificate databases to create a de-identified study database; (2) To assess maternal cytomegalovirus (CMV) seroprevalence by measuring CMV IgG in newborn dried blood spots; (3) To assess congenital CMV infection among newborns and possible association with preterm birth. NBS and birth databases were linked and patient records were de-identified. A stratified random sample of records based on gestational age was selected and used to retrieve blood spots from the state NBS laboratory. Serum containing maternal antibodies was eluted from blood spots and tested for the presence of CMV IgG. DNA was extracted from blood spots and tested for the presence of CMV DNA. Analyses were performed with bivariable and multivariable logistic regression models. Linkage rates and specimen collection exceeded 98% of the total possible yielding a final database with 3,101 newborn blood spots. CMV seroprevalence was 91% among Black mothers, 83% among Hispanic mothers, 59% among White mothers, and decreased with increasing amounts of education. The prevalence of CMV infection in newborns was 0.45% and did not vary significantly by gestational age. Successful methods for database linkage, newborn blood spots collection, and de-identification of records can serve as a model for future congenital exposure surveillance projects. Maternal CMV seroprevalence was strongly associated with race/ethnicity and educational level. Congenital CMV infection rates were lower than those reported by other studies and lacked statistical power to examine associations with preterm birth.

  12. Acute traumatic cataracts

    International Nuclear Information System (INIS)

    Titelbaum, D.S.; Grossman, R.I.; Lloyd, W.C.; Cohen, E.J.; Atlas, S.W.

    1989-01-01

    This paper reports orbital CT scans of 15 patients with clinically diagnoses traumatic cataracts retrospectively reviewed to determine the presence of radiographically detectable lens abnormalities. Definite lens swelling was clinically observed in a lease five cases. Eleven patients, scanned 4 hours of 3 days after injury, revealed visible and measured decreased CT density of the cataractous lens compared with the normal contralateral lens (average mean difference, 28 HU), suggesting acute lens swelling. In one patient, lens morphologic changes but not HU differences were found, probably due to superimposed hemorrhage. Three patients, scanned 3-8 hours after injury, revealed no detectable lens abnormality. The findings suggest that CT is potentially capable of identifying traumatic cataracts

  13. Radiation and cataract

    International Nuclear Information System (INIS)

    Rehani, M. M.; Vano, E.; Ciraj-Bjelac, O.; Kleiman, N. J.

    2011-01-01

    When this paper was about to go to press, the International Commission on Radiological Protection released a statement recommending a change in the threshold dose for the eye lens and dose limits for eye for occupationally exposed persons. It is clear that the earlier published threshold for radiation cataract is no longer valid. Epidemiological studies among Chernobyl clean-up workers, A bomb survivors, astronauts, residents of contaminated buildings, radiological technicians and recent surveys of staff in interventional rooms indicate that there is an increased incidence of lens opacities at doses below 1 Gy. Nevertheless, eye lens dosimetry is at a primitive stage and needs to be developed further. Despite uncertainties concerning dose threshold and dosimetry, it is possible to significantly reduce the risk of radiation cataract through the use of appropriate eye protection. By increasing awareness among those at risk and better adoption and increased usage of protective measures, radiation cataract can become preventable despite lowering of dose limits. (authors)

  14. Systemic Comorbidity in Children with Cataracts in Nigeria: Advocacy for Rubella Immunization

    Directory of Open Access Journals (Sweden)

    Roseline Duke

    2015-01-01

    Full Text Available Background. Congenital and developmental cataracts are leading causes of childhood blindness and severe visual impairment. They may be associated with systemic diseases including congenital heart diseases which are among the major causes of morbidity and mortality in childhood. The pattern of systemic comorbidities seen in children diagnosed with cataract in Calabar, Nigeria, was studied. Methods. A retrospective review was conducted on the children who had cataract surgery between 2011 and 2012. Diagnosis of the systemic condition was documented. Results. A total of 66 children were recruited for the study. Cardiac disease was seen in 26 children (39.9%, followed by delayed milestone in 16 (24.2%, intellectual disability in 14 (21.2%, deafness in 11 (16.7%, epilepsy in 4 (6.1%, and physical handicap in 3 (4.5% of them. Clinically confirmed Congenital Rubella Syndrome was seen in 30 (45% of the children. The pattern of CHD seen was as follows: patent ductus arteriosus in 16 (24.2% followed by ventricular-septal defect in 5 (7.6%, atrial-septal defect in 3 (4.5%, and pulmonary stenosis in 2 (3%. Conclusion. Systemic comorbidities, especially cardiac anomalies, are common among children with cataract in Nigeria. Congenital Rubella Syndrome may be a prominent cause of childhood cataract in our environment. Routine immunization of school girls against rubella is advocated as a measure to mitigate this trend.

  15. Anaesthetic Management for Cataract Surgery in VACTERL Syndrome Case Report

    Directory of Open Access Journals (Sweden)

    Sonal S Khatavkar

    2009-01-01

    Full Text Available Eight year old girl, weighing 14 kg with VACTERL syndrome V: Vertebral anomalies, A: Anal malformation, C: Cardiovascular defect, TE: Tracheal and esophageal malformation, R:Renal agenesis, L: Limb anomalies., underwent cataract surgery under general anaesthesia. She had multiple congenital anomalies like esophageal atresia, imperfo-rate anus (corrected, single kidney& radial aplasia. Anticipating problems of gastro-esophageal reflux& chronic renal failure, successful management was done.

  16. Cataract surgery among Medicare beneficiaries.

    Science.gov (United States)

    Schein, Oliver D; Cassard, Sandra D; Tielsch, James M; Gower, Emily W

    2012-10-01

    To present descriptive epidemiology of cataract surgery among Medicare recipients in the United States. Cataract surgery performed on Medicare beneficiaries in 2003 and 2004. Medicare claims data were used to identify all cataract surgery claims for procedures performed in the United States in 2003-2004. Standard assumptions were used to limit the claims to actual cataract surgery procedures performed. Summary statistics were created to determine the number of procedures performed for each outcome of interest: cataract surgery rates by age, sex, race and state; surgical volume by facility type and surgeon characteristics; time interval between first- and second-eye cataract surgery. The national cataract surgery rate for 2003-2004 was 61.8 per 1000 Medicare beneficiary person-years. The rate was significantly higher for females and for those aged 75-84 years. After adjustment for age and sex, blacks had approximately a 30% lower rate of surgery than whites. While only 5% of cataract surgeons performed more than 500 cataract surgeries annually, these surgeons performed 26% of the total cataract surgeries. Increasing surgical volume was found to be highly correlated with use of ambulatory surgical centers and reduced time interval between first- and second-eye surgery in the same patient. The epidemiology of cataract surgery in the United States Medicare population documents substantial variation in surgical rates by race, sex, age, and by certain provider characteristics.

  17. cataract surgical services

    African Journals Online (AJOL)

    countries of Asia, Africa, and Latin. America (3,4). With an estimated 12,000 bilaterally blind people ... (OMA's). 1 general medical practitioner. Loptometry technician. 1 general nurse and. 3 health assistants. Ocular morbidities cataract and aphakia corneal scarring/phthisis glaucoma refractive errors others. Percent. 52.4.

  18. A previously unidentified deletion in G protein-coupled receptor 143 causing X-linked congenital nystagmus in a Chinese family

    Directory of Open Access Journals (Sweden)

    Jing Liu

    2016-01-01

    Full Text Available Background: Congenital nystagmus (CN is characterized by conjugated, spontaneous, and involuntary ocular oscillations. It is an inherited disease and the most common inheritance pattern is X-linked CN. In this study, our aim is to identify the disease-causing mutation in a large sixth-generation Chinese family with X-linked CN. Methods: It has been reported that mutations in four-point-one, ezrin, radixin, moesin domain-containing 7 gene (FRMD7 and G protein-coupled receptor 143 gene (GPR143 account for the majority patients of X-linked nystagmus. We collected 8 ml blood samples from members of a large sixth-generation pedigree with X-linked CN and 100 normal controls. FRMD7 and GPR143 were scanned by polymerase chain reaction (PCR-based DNA sequencing assays, and multiplex PCR assays were applied to detect deletions. Results: We identified a previously unreported deletion covering 7 exons in GPR143 in a Chinese family. The heterozygous deletion from exon 3 to exon 9 of GPR143 was detected in all affected males in the family, while it was not detected in other unaffected relatives or 100 normal controls. Conclusions: This is the first report of molecular characterization in GPR143 gene in the CN family. Our results expand the spectrum of GPR143 mutations causing CN and further confirm the role of GPR143 in the pathogenesis of CN.

  19. Genetics Home Reference: congenital hyperinsulinism

    Science.gov (United States)

    ... Topic: Hypoglycemia Health Topic: Metabolic Disorders Genetic and Rare Diseases Information Center (1 link) Congenital hyperinsulinism Educational Resources (7 links) Boston Children's Hospital: Hypoglycemia and Low Blood Sugar in Children Cook Children's Hospital (PDF) Disease InfoSearch: ...

  20. Phacoemulsification in subluxated cataract.

    Directory of Open Access Journals (Sweden)

    Praveen M

    2003-01-01

    Full Text Available Purpose: To evaluate the outcome of phacoemulsification in eyes with subluxated cataract. Materials and Methods: This retrospective study comprised 22 eyes of 20 consecutive patients with subluxated cataracts of varying aetiology operated between March 1998 and March 2001. Detailed preoperative assessment included visual acuity (VA, slitlamp examination, presence of vitreous in anterior chamber, extent of subluxation, intraocular pressure (IOP and detailed fundus examination. Phacoemulsification was done to retain the natural bag support and all patients had acrylic foldable Acrysof IOL implantation either in-the-bag or by scleral fixation. Postoperative observations included best-corrected visual acuity (BCVA, IOP, pupillary reaction and the IOL position. Results: The aetiology of the subluxation was traumatic in 11 patients and non-traumatic in 9 patients. Fifteen were males and 5 were females. Mean follow-up was 11.7 ± 9.71 months (range 4-39. The average age was 39.15 ± 16.33 (range 5 - 74. A 2-port anterior chamber vitrectomy was performed in 6 eyes (27.2%. Capsule tension ring (CTR was implanted in 15 eyes (68.18%. Twelve eyes (54.5% had in-the-bag implants, while 5 (22.72% had scleral fixation. The remaining 5 eyes (22.72% had one haptic in-the-bag and another sutured to sclera. No major intraoperative complications were noted. Twelve eyes (54.5% had clinically and geometrically well centered IOLs while 9 eyes (40.9% had geometrically decentered IOLs. One patient was lost to follow-up. Fifteen eyes (55.55% had postoperative BCVA of 6/12 - 6/6 while 2 eyes (7.40% had BCVA of 6/18. The remaining 4 eyes (14.81% had less than 6/24 BCVA due to pre-existing posterior segment pathology. Postoperative complications included rise in IOP in 1 eye (4.54%, pupillary capture of the IOL optic in 2 eyes (9.09%; the same 2 eyes (9.09% required redialing of IOL. One eye (4.54% had to undergo refixation (one haptic was fixed to sclera year after cataract

  1. Cataract surgery output and cost of hospitalization for cataract ...

    African Journals Online (AJOL)

    Si nous devons réussir à éliminer les arrièrs problèmes des cataracts de plus de ½ million cas, nos efforts sur la chirurgie de cataracte devraient porter principalement sur des programmes visant sur des measures preventives contre les incidences de la cécité. 106 cas des chirurgies cataracts avaient été opérées Durant la ...

  2. Three cases of extracapsular cataract extraction for radiation cataract

    International Nuclear Information System (INIS)

    Hirokane, Kenji; Kosaka, Toshiya; Nii, Hiroki; Kiuchi, Yoshiaki; Nakano, Kensuke; Choshi, Kanji

    1996-01-01

    Extracapsular cataract extraction and intraocular lens implantation was performed on 4 eyes of 3 patients with radiation cataract. Case 1 was a 60-year-old man who was exposed to the ionizing radiation of the atomic bomb in Hiroshima 730 meters from the center of the explosion. He developed atomic bomb radiation senile cataracts in both eyes. Despite cataract surgery, a central plaque remained on the posterior capsule in the region corresponding to the central dense opacity in both eyes. Case 2 was an 81-year-old man who was in a streetcar 1,000 meters from the center of the explosion at the time of the atomic bombing. Senile and radiation-induced cataract decreased the visual acuity in both eyes. After extracapsular cataract extraction in his right eye, central opacification and a fibrous white membrane remained on the posterior capsule. These were removed by Nd-YAG laser capsulotomy six days after surgery. Case 3 was a 56-year-old man who developed radiation cataract after radiation therapy to a malignant lymphoma in the right orbit. Phacoemulsification and aspiration could not remove the fibrous white membrane from the posterior capsule in this case. Central opacities and fibrous white membranes on the posterior capsule after cataract surgery appears to be a characteristic of radiation cataract. (author)

  3. Radiation-induced cataract

    International Nuclear Information System (INIS)

    Martignoni, K.

    1986-01-01

    Dose assessments for cataract threshold doses are available based on epidemiological studies of radiotherapy patients, survivors of the nuclear bombing of Hiroshima and Nagasaki, and of persons with occupational exposure to radiation. According to these, short-term application of low-level LET radiation of a dose ranging between 0.5 and 2.0 Gy may suffice to cause a cataract in the course of a few months or years which results in inpairment of vision (UNSCEAR, 1982). In fractionated irradiation, cataractogenic threshold dose increases to 4 Sv at treatment times between 3 weeks and 3 months, and to more than 5 Sv at more than 3 months (ICRP 41). Densely ionizing radiation must be assumed to have threshold doses between 2 and 20 Sv. An ICRP assessment (ICRP Publ. No. 41, 1984) gives a threshold dose of more than 8 Sv for a vision-impairing cataract if these was protracted irradiation at a low-level dose rate. Concerning radiation protection, a maximum lens dose of 150 mSv per annum was recommended which should not be exceeded. This indicates a maximum of 7.5 Sv of exposure throughout a period of 50 years of working life. (orig./HP) [de

  4. IOL Implants: Lens Replacement and Cataract Surgery (Intraocular Lenses)

    Science.gov (United States)

    ... Oncology Oculoplastics/Orbit Refractive Management/Intervention Retina/Vitreous Uveitis Focus On Pediatric Ophthalmology ... Are Cataracts? Pediatric Cataracts Cataract Diagnosis and Treatment Cataract Surgery IOL Implants: Lens Replacement After Cataracts ...

  5. Paediatric cataract: challenges and complications

    Directory of Open Access Journals (Sweden)

    Dr P Vijayalakshmi

    2016-10-01

    Full Text Available Amblyopia should always be anticipated in children with unilateral cataract, asymmetrical bilateral cataracts (or where there is a delay between the first and second eye operation, or a delay of more than a year between diagnosis/ detection and surgery, cataracts with anisometropia or traumatic cataracts with corneal scars. When amblyopia is detected, occlusion therapy (eye patching must be instituted at the earliest opportunity. The patching regimen is the same with any strabismic amblyopia and sometimes needs to be aggressive at the start. It is crucial to explain the need for patching to the parents, since compliance is the greatest obstacle to the success of amblyopia treatment.

  6. The social construction of paediatric cataract: how parents make sense of their child’s condition

    Directory of Open Access Journals (Sweden)

    Pradeep Krishnatray

    2006-09-01

    Full Text Available IntroductionChildhood cataract, congenital and traumatic, is the most common treatable cause of childhood blindness, being responsible for 10 to 30 per cent of all childhood blindness. Preventing blindness from childhood cataract requires not only high-quality paediatric surgery, but also an awareness of parents’ understanding of the eye problem, and why they might not agree to surgery for their child. Several studies have examined the medical and social aspects of childhood cataract. Foster et al.1 point out that childhood blindness has huge socio-economic costs, and restoring the sight of one child blind from cataract is considered equivalent to restoring the sight of 10 elderly adults. It is therefore crucial that we understand why parents might not take up the option of surgery.

  7. Persistent fetal vasculature: ocular features, management of cataract and outcomes

    Directory of Open Access Journals (Sweden)

    Marcia Beatriz Tartarella

    2013-06-01

    Full Text Available PURPOSES: To describe ocular features, management of cataract and functional outcomes in patients with persistent fetal vasculature. METHODS: Retrospective, descriptive case series of patients with persistent fetal vasculature. Data were recorded from the Congenital Cataract Section of Federal University of São Paulo, Brazil from 2001 to 2012. All patients were evaluated for sex, age at diagnosis, systemic findings, laterality, age at surgery, and initial and final follow-up visual acuities. Follow-up and complications after cataract surgery were recorded. Ultrasound was performed in all cases and ocular eco-Doppler was performed in most. RESULTS: The study comprised 53 eyes from 46 patients. Age at diagnosis ranged from 5 days of life to 10 years-old (mean 22.7 months. Twenty-seven patients were male (58.7%. Persistent fetal vasculature was bilateral in 7 patients (15.2%. Forty-two eyes (79.2% had combined (anterior and posterior forms PFV presentation, 5 eyes (9.4% had only anterior persistent fetal vasculature presentation and 6 eyes (11.3% had posterior persistent fetal vasculature presentation. Thirty-eight eyes (71.7% were submitted to cataract surgery. Lensectomy combined with anterior vitrectomy was performed in 18 eyes (47.4%. Phacoaspiration with intraocular lens implantation was performed in 15 eyes (39.5%, and without lens implantation in 5 eyes (13.2%. Mean follow-up after surgery was 44 months. Postoperative complications were posterior synechiae (3 cases, retinal detachment (2 cases, phthisis (3 cases, posterior capsular opacification (8 cases, inflammatory pupillary membrane (5 cases, glaucoma (4 cases, intraocular lens implantation displacement (1 case and vitreous hemorrhage (2 cases. Complications were identified in 19 (50% of the 38 operated eyes. Visual acuity improved after cataract surgery in 83% of the eyes. CONCLUSIONS: Patients with persistent fetal vasculature have variable clinical presentation. There is an

  8. Physical self-concept and its link to cardiopulmonary exercise tolerance among adolescents with mild congenital heart disease.

    Science.gov (United States)

    Chen, Chi-Wen; Su, Wen-Jen; Wang, Jou-Kou; Yang, Hsiao-Ling; Chiang, Yueh-Tao; Moons, Philip

    2015-06-01

    Due to medical advances, most children with congenital heart disease (CHD) are expected to survive into adulthood. Establishing adequate physical self-concept and cardiopulmonary tolerance during the adolescent period can primarily enhance overall well-being. The purpose of this study was to undertake a gender-specific evaluation of the domain of physical self-concept among adolescents with mild CHD, and to examine the relationships between physical self-concept and cardiopulmonary exercise tolerance among adolescents with mild CHD. Four hundred and thirteen adolescents 12-20 years of age, whose cardiologists had not recommended any limitation of exercise, completed Physical Self-Description Questionnaires and three-minute step tests in two outpatient cardiology departments. The male participants had significantly greater scores in measures of overall physical self-concept, competence in sports, physical appearance, body fat, physical activity, endurance, and strength than did the female participants. More than 80% of the participants had at least an average cardiopulmonary exercise tolerance index. The perception of not being 'too fat' and being more physically active were significant correlates of better cardiopulmonary exercise tolerance for adolescents with mild CHD. The results provided evidence for gender-specific evaluation of domains of physical self-concept among adolescents with mild CHD. The three-minute step test to measure cardiopulmonary exercise tolerance in adolescents with mild CHD may be an appropriate objective measure for use in future research. Continued efforts are needed in early intervention to promote cardiopulmonary exercise tolerance. © The European Society of Cardiology 2014.

  9. Congenital Hypothyroidism

    Science.gov (United States)

    ... Disease Featured Resource Find an Endocrinologist Search Congenital Hypothyroidism March 2012 Download PDFs English Espanol Editors Rosalind S. ... Resources MedlinePlus (NIH) Mayo Clinic What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  10. "Ant-egg" cataract revisited

    DEFF Research Database (Denmark)

    Clemmensen, Kåre; Enghild, Jan J; Ivarsen, Anders

    2017-01-01

    -ray scans and electron microscopy. The purpose of this study was to further characterize "ant-egg" cataract using modern technology and display the history of the "ant-eggs" after cataract extraction. METHODS: "Ant-eggs" were examined using Heidelberg SPECTRALIS Optical Coherence Tomography (OCT...

  11. Cirurgia da catarata infantil unilateral Unilateral pediatric cataract surgery

    Directory of Open Access Journals (Sweden)

    Adriana Maria Drummond Brandão

    2008-04-01

    Full Text Available OBJETIVO: Analisar os resultados visuais de uma série de crianças operadas de catarata unilateral. MÉTODOS: Um estudo retrospectivo foi realizado através da análise de 35 prontuários médicos do Serviço de Catarata Congênita da UNIFESP/EPM. RESULTADOS: Quanto à etiologia, a primeira causa de catarata foi idiopática, a segunda causa foi o trauma e a terceira foi a rubéola congênita. Em 51,4% dos olhos tinham acuidade visual pré-operatória de ausência de fixação. E em 42,8% dos casos operados a acuidade visual final foi igual ou melhor que 20/200. DISCUSSÃO: Embora a cirurgia em catarata unilateral seja motivo de controvérsias entre os oftalmologistas, obteve-se melhora de acuidade visual em número significativo de casos.PURPOSE: To analyze the results in a series of children submitted to unilateral cataract surgery. METHODS: A retrospective study was conducted through the analysis of 35 patient files from the Congenital Cataract Service of UNIFESP/EPM. RESULTS: The main cause of unilateral cataract was idiopathic, the second cause was ocular trauma and the third cause was congenital rubella. Initial visual acuity was very poor in 51.4% of the cases (did not fix or follow, and the best corrected final visual acuity was better than 20/200 in 42.8% of the eyes. DISCUSSION: Although controversial, the surgical treatment of unilateral cataract, in this study, showed improvement in many cases.

  12. Etiopathogenesis of cataract: An appraisal

    Directory of Open Access Journals (Sweden)

    Varun B Gupta

    2014-01-01

    Full Text Available Natural eye lens is a crystalline substance to produce a clear passage for light. Cataract is opacity within the clear lens of the eye and is the dominant cause of socio-medical problem i.e., blindness worldwide. The only available treatment of cataract is surgery. However, insufficient surgical facilities in poor and developing countries and post-operative complications inspire researchers to find out other modes of treatment for cataract. In this review, an attempt has been made to appraise various etiological factors of cataract to make their perception clear to build up counterpart treatment. Present study is an assortment of various available literatures and electronic information in view of cataract etiopathogenesis. Various risk factors have been identified in development of cataracts. They can be classified in to genetic factors, ageing (systemic diseases, nutritional and trace metals deficiencies, smoking, oxidative stress etc., traumatic, complicated (inflammatory and degenerative diseases of eye, metabolic (diabetes, galactosemia etc., toxic substances including drugs abuses, alcohol etc., radiation (ultraviolet, electromagnetic waves etc. are implicated as significant risk factors in the development of cataract.

  13. Risk of cataract and glaucoma in patients with multiple sclerosis

    NARCIS (Netherlands)

    Marloes Bazelier; Tjeerd van Staa; Bernard Uitdehaag; Sigrid Mueller-Schotte; Hubert Leufkens; Frank de Vries

    2012-01-01

    The aim of the study was to evaluate whether multiple sclerosis (MS) is associated with risk of cataract or glaucoma. We conducted a population-based cohort study utilizing the UK General Practice Research Database (1987–2009) linked to the national hospital registry of England (1997–2008). Incident

  14. Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Beggs, A.H.; Neumann, P.E.; Anderson, M.S.; Kunkel, L.M. (Harvard Medical School, Boston, MA (United States)); Arahata, Kiichi; Arikawa, Eri; Nonaka, Ikuya (National Inst. of Neuroscience, Tokyo (Japan))

    1992-01-15

    Abnormalities of dystrophin, a cytoskeletal protein of muscle and nerve, are generally considered specific for Duchenne and Becker muscular dystrophy. However, several patients have recently been identified with dystrophin deficiency who, before dystrophin testing, were considered to have Fukuyama congenital muscular dystrophy (FCMD) on the basis of clinical findings. Epidemiologic data suggest that only 1/3,500 males with autosomal recessive FCMD should have abnormal dystrophin. To explain the observation of 3/23 FCMD males with abnormal dystrophin, the authors propose that dystrophin and the FCMD gene product interact and that the earlier onset and greater severity of these patients' phenotype (relative to Duchenne muscular dystrophy) are due to their being heterozygous for the FCMD mutation in addition to being hemizygous for Duchenne muscular dystrophy, a genotype that is predicted to occur in 1/175,000 Japanese males. This model may help explain the genetic basis for some of the clinical and pathological variability seen among patients with FCMD, and it has potential implications for understanding the inheritance of other autosomal recessive disorders in general. For example, sex ratios for rare autosomal recessive disorders caused by mutations in proteins that interact with X chromosome-linked gene products may display predictable deviation from 1:1.

  15. Pediatric cataract surgery in Madagascar

    African Journals Online (AJOL)

    2013-03-28

    Mar 28, 2013 ... Results: A total of 60.5 percent of the 86 children operated on during ... cataract, an avoidable cause of blindness and visual disability in children on the island nation. .... counseling services, reimbursement of transportation,.

  16. Combined keratoplasty and cataract extraction.

    Science.gov (United States)

    Demeler, U; Hinzpeter, E N

    1977-04-01

    A short film showing our technique of combined penetrating keratoplasty and intracapsular cataract extraction was shown, and the postoperative results in 72 eyes after an average of 3 years were reported.

  17. Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.

    Science.gov (United States)

    Anand, Deepti; Agrawal, Smriti A; Slavotinek, Anne; Lachke, Salil A

    2018-04-01

    Mutations in the transcription factor genes FOXE3, HSF4, MAF, and PITX3 cause congenital lens defects including cataracts that may be accompanied by defects in other components of the eye or in nonocular tissues. We comprehensively describe here all the variants in FOXE3, HSF4, MAF, and PITX3 genes linked to human developmental defects. A total of 52 variants for FOXE3, 18 variants for HSF4, 20 variants for MAF, and 19 variants for PITX3 identified so far in isolated cases or within families are documented. This effort reveals FOXE3, HSF4, MAF, and PITX3 to have 33, 16, 18, and 7 unique causal mutations, respectively. Loss-of-function mutant animals for these genes have served to model the pathobiology of the associated human defects, and we discuss the currently known molecular function of these genes, particularly with emphasis on their role in ocular development. Finally, we make the detailed FOXE3, HSF4, MAF, and PITX3 variant information available in the Leiden Online Variation Database (LOVD) platform at https://www.LOVD.nl/FOXE3, https://www.LOVD.nl/HSF4, https://www.LOVD.nl/MAF, and https://www.LOVD.nl/PITX3. Thus, this article informs on key variants in transcription factor genes linked to cataract, aphakia, corneal opacity, glaucoma, microcornea, microphthalmia, anterior segment mesenchymal dysgenesis, and Ayme-Gripp syndrome, and facilitates their access through Web-based databases. © 2018 Wiley Periodicals, Inc.

  18. The global burden of cataract.

    Science.gov (United States)

    Rao, Gullapalli N; Khanna, Rohit; Payal, Abhishek

    2011-01-01

    To review the previous year's literature related to prevalence of blindness in general, blindness due to cataract, cataract surgical coverage (CSC) and cataract surgical rates (CSRs). Cataracts are the major cause of blindness and visual impairment in developing countries and contributes to more than 90% of the total disability adjusted life years. This review shows that coverage continues to be a problem in many countries, especially for the female population, those residing in rural areas and those who are illiterate. Although CSR is an indicator of the availability and acceptability of services, for measuring the impact of the program, we should look at combining CSR with CSC. This strategy would also enable us achieve our goal of eliminating avoidable blindness due to cataracts by the year 2020. Cataracts still continue- to be a major cause of blindness globally and with the rapidly aging population, it is a challenge to tackle. We need to plan a comprehensive strategy addressing issues related to availability, affordability, accessibility and acceptability of eye-care services.

  19. Time-reversed ultrasonically encoded optical focusing through highly scattering ex vivo human cataractous lenses

    Science.gov (United States)

    Liu, Yan; Shen, Yuecheng; Ruan, Haowen; Brodie, Frank L.; Wong, Terence T. W.; Yang, Changhuei; Wang, Lihong V.

    2018-01-01

    Normal development of the visual system in infants relies on clear images being projected onto the retina, which can be disrupted by lens opacity caused by congenital cataract. This disruption, if uncorrected in early life, results in amblyopia (permanently decreased vision even after removal of the cataract). Doctors are able to prevent amblyopia by removing the cataract during the first several weeks of life, but this surgery risks a host of complications, which can be equally visually disabling. Here, we investigated the feasibility of focusing light noninvasively through highly scattering cataractous lenses to stimulate the retina, thereby preventing amblyopia. This approach would allow the cataractous lens removal surgery to be delayed and hence greatly reduce the risk of complications from early surgery. Employing a wavefront shaping technique named time-reversed ultrasonically encoded optical focusing in reflection mode, we focused 532-nm light through a highly scattering ex vivo adult human cataractous lens. This work demonstrates a potential clinical application of wavefront shaping techniques.

  20. Association of Cataract Surgery With Mortality in Older Women: Findings from the Women's Health Initiative.

    Science.gov (United States)

    Tseng, Victoria L; Chlebowski, Rowan T; Yu, Fei; Cauley, Jane A; Li, Wenjun; Thomas, Fridtjof; Virnig, Beth A; Coleman, Anne L

    2018-01-01

    Previous studies have suggested an association between cataract surgery and decreased risk for all-cause mortality potentially through a mechanism of improved health status and functional independence, but the association between cataract surgery and cause-specific mortality has not been previously studied and is not well understood. To examine the association between cataract surgery and total and cause-specific mortality in older women with cataract. This prospective cohort study included nationwide data collected from the Women's Health Initiative (WHI) clinical trial and observational study linked with the Medicare claims database. Participants in the present study were 65 years or older with a diagnosis of cataract in the linked Medicare claims database. The WHI data were collected from January 1, 1993, through December 31, 2015. Data were analyzed for the present study from July 1, 2014, through September 1, 2017. Cataract surgery as determined by Medicare claims codes. The outcomes of interest included all-cause mortality and mortality attributed to vascular, cancer, accidental, neurologic, pulmonary, and infectious causes. Mortality rates were compared by cataract surgery status using the log-rank test and Cox proportional hazards regression models adjusting for demographics, systemic and ocular comorbidities, smoking, alcohol use, body mass index, and physical activity. A total of 74 044 women with cataract in the WHI included 41 735 who underwent cataract surgery. Mean (SD) age was 70.5 (4.6) years; the most common ethnicity was white (64 430 [87.0%]), followed by black (5293 [7.1%]) and Hispanic (1723 [2.3%]). The mortality rate was 2.56 per 100 person-years in both groups. In covariate-adjusted Cox models, cataract surgery was associated with lower all-cause mortality (adjusted hazards ratio [AHR], 0.40; 95% CI, 0.39-0.42) as well as lower mortality specific to vascular (AHR, 0.42; 95% CI, 0.39-0.46), cancer (AHR, 0.31; 95% CI, 0

  1. A R54L mutation of CRYAA associated with autosomal dominant nuclear cataracts in a Chinese family.

    Science.gov (United States)

    Yang, Zhenfei; Su, Dongmei; Li, Qian; Ma, Zicheng; Yang, Fan; Zhu, Siquan; Ma, Xu

    2013-12-01

    To identify the genetic defect in a three-generation Chinese family with congenital cataracts. The phenotype of a three-generation Chinese family with congenital cataract was recruited. Detailed family history and clinical data of the family were recorded. Candidate genes sequencing was performed to screen out the disease-causing mutation. Bioinformatics analysis was performed to predict the function of mutant gene. The phenotype of the family was identified as nuclear cataract. Direct sequencing revealed a c.161 G > T transversion in exon 1 of crystallin alpha-A (CRYAA). This mutation co-segregated with all affected individuals in the family and was not found in unaffected family members nor in the 100 unrelated controls. Bioinformatics analysis indicated that the 54th amino acid position was highly conserved and the mutation R54L caused an increase of local hydrophobicity around the substitution site. This study identified a novel disease-causing mutation c.161 G > T (p.R54L) in CRYAA in a Chinese family with autosomal dominant nuclear cataracts, this is the first report relating a G > T mutation in CRYAA leading to congenital nuclear cataract.

  2. Congenital tuberculosis

    African Journals Online (AJOL)

    Prof Ezechukwu

    2012-06-20

    Jun 20, 2012 ... Key words: Congenital tuberculo- sis, case report, miliary tuberculosis. Introduction. Congenital tuberculosis defines tuberculosis in infants of .... tary TB and otitis media, resulting in seizures, deafness, and death. It is therefore not surprising that the index case who presented at twelve weeks of age, had ...

  3. Congenital Abnormalities

    Science.gov (United States)

    ... tube defects. However, there is also a genetic influence to this type of congenital anomaly. Unknown Causes The vast majority of congenital abnormalities have no known cause. This is particularly troubling for parents who plan to have more children, because there is no way to predict if ...

  4. Advances in hard nucleus cataract surgery

    Directory of Open Access Journals (Sweden)

    Wei Cui

    2013-11-01

    Full Text Available Security and perfect vision and fewer complications are our goals in cataract surgery, and hard-nucleus cataract surgery is always a difficulty one. Many new studies indicate that micro-incision phacoemulsification in treating hard nucleus cataract is obviously effective. This article reviews the evolution process of hard nuclear cataract surgery, the new progress in the research of artificial intraocular lens for microincision, and analyse advantages and disadvantages of various surgical methods.

  5. Cerebral gigantism (Sotos' syndrome) and cataracts.

    Science.gov (United States)

    Yeh, H; Price, R L; Lonsdale, D

    1978-01-01

    A five-year-old girl with cerebral gigantism (Sotos' syndrome) and cataracts is described. Sotos' syndrome, characterized by generalized gigantism with normal endocrine studies has rarely been reported with ocular abnormalities and never with cataracts. It is important to study any child with cataracts for systemic disease.

  6. Immediate Sequential Bilateral Cataract Surgery

    DEFF Research Database (Denmark)

    Kessel, Line; Andresen, Jens; Erngaard, Ditte

    2015-01-01

    The aim of the present systematic review was to examine the benefits and harms associated with immediate sequential bilateral cataract surgery (ISBCS) with specific emphasis on the rate of complications, postoperative anisometropia, and subjective visual function in order to formulate evidence......-based national Danish guidelines for cataract surgery. A systematic literature review in PubMed, Embase, and Cochrane central databases identified three randomized controlled trials that compared outcome in patients randomized to ISBCS or bilateral cataract surgery on two different dates. Meta-analyses were...... performed using the Cochrane Review Manager software. The quality of the evidence was assessed using the GRADE method (Grading of Recommendation, Assessment, Development, and Evaluation). We did not find any difference in the risk of complications or visual outcome in patients randomized to ISBCS or surgery...

  7. Prenatal diagnosis of congenital heart disease using four-dimensional spatio-temporal image correlation (STIC) telemedicine via an Internet link: a pilot study.

    Science.gov (United States)

    Viñals, F; Mandujano, L; Vargas, G; Giuliano, A

    2005-01-01

    To assess whether the spatio-temporal image correlation (STIC) acquisition technique can be taught to a general obstetrician by e-mail; whether STIC volume datasets can be transmitted over the Internet; and whether STIC volume datasets analyzed offline at a remote setting can be used to confirm or exclude major cardiac defects (TELE-STIC). This was a prospective study involving 50 pregnant women with gestational ages ranging between 20 and 36 weeks. These patients were selected by two general obstetricians (operators) working in geographically remote areas of Chile. Although both obstetricians were users of equipment capable of four-dimensional (4D) ultrasound with STIC, they lacked skill in the performance of fetal cardiac examination. A dedicated web disk was created to upload the acquired volume datasets using an Internet broadband connection. Offline analysis was performed by a single investigator experienced in fetal echocardiography (the administrator). A telemedicine link via the Internet was possible in all cases. Seventy-seven volume datasets were sent to the web server. A complete cardiac examination according to set criteria was achieved by the administrator in 86% of the cases scanned by one operator and 95% of the cases scanned by the other operator. Three patients had cardiac defects confirmed postnatally, two fetuses had extracardiac anomalies and one fetus had a suspected cardiac defect unconfirmed by second-opinion TELE-STIC. There were two isolated major congenital heart defects. Both patients were given advice by e-mail and teleconference using a web camera about the likely outcome and benefits of scheduling in utero transport to a tertiary care center. STIC volumes can be obtained by operators inexperienced in fetal echocardiography, transmitted via the Internet, and their analysis enables recognition of most of the structures and views necessary to assess fetal cardiac anatomy. The preliminary use of TELE-STIC allowed us to demonstrate that

  8. Congenital rubella

    Science.gov (United States)

    ... that usually closes shortly after birth remains open ( patent ductus arteriosus ) Narrowing of the large artery that ... prior to pregnancy can prevent congenital rubella. Pregnant women who have not had the vaccine should avoid ...

  9. Congenital cataract screening in maternity wards is effective

    DEFF Research Database (Denmark)

    Magnusson, Gunilla; Bizjajeva, Svetlana; Haargaard, Birgitte

    2013-01-01

    AIM: To study which eye-screening protocol prevails in Swedish maternity/neonatal wards, evaluate efficacy in a prospective study, and compare results with earlier Swedish retrospective results. METHODS: Surveys were sent in 2006 to maternity/neonatal and women's health departments regarding...... with earlier retrospective results was performed. RESULTS: Eye screening is routine protocol at a rate of 90% of Swedish maternity wards. Sixty-one children were included in the study. An increase was shown in case referrals from maternity wards compared to ten years ago (64% versus 50%). Detection...

  10. A novel T→G splice site mutation of CRYBA1/A3 associated with autosomal dominant nuclear cataracts in a Chinese family.

    Science.gov (United States)

    Yang, Zhenfei; Su, Dongmei; Li, Qian; Yang, Fan; Ma, Zicheng; Zhu, Siquan; Ma, Xu

    2012-01-01

    The purpose of this study was to identify the disease-causing mutation and the molecular phenotype that are responsible for the presence of an autosomal dominant congenital nuclear cataract disease in a Chinese family. The family history and clinical data were recorded. The patients were given a physical examination and their blood samples were collected for DNA extraction. Direct sequencing was used to detect the mutation. Transcription analysis of the mutant crystallin, beta A1 (CRYBA1/A3) gene was performed to verify whether the defective mutation had influenced the splice of the mature mRNA. The phenotype of the congenital cataract in the family was identified as a nuclear cataract type, by using slit-lamp photography. Direct sequencing revealed a novel mutation IVS3+2 T→G in CRYBA1/A3. This mutation co-segregated with all affected individuals in the family, but was not found in unaffected family members nor in the 100 unrelated controls. Transcription analysis of the mutant CRYBA1/A3 gene indicated that this mutation had influenced the splice of the mature mRNA. Our study identified a novel splice site mutation in CRYBA1/A3. This mutation was responsible for aberrant splicing of the mature mRNA and had caused the congenital nuclear cataracts in the family. This is the first report relating an IVS3+2 T→G mutation of CRYBA1/A3 to congenital cataracts.

  11. Basic multisensory functions can be acquired after congenital visual pattern deprivation in humans

    DEFF Research Database (Denmark)

    Putzar, L.; Gondan, Matthias; Röder, B.

    2012-01-01

    People treated for bilateral congenital cataracts offer a model to study the influence of visual deprivation in early infancy on visual and multisensory development. We investigated cross-modal integration capabilities in cataract patients using a simple detection task that provided redundant...... information to two different senses. In both patients and controls, redundancy gains were consistent with coactivation models, indicating an integrated processing of modality-specific information. This finding is in contrast with recent studies showing impaired higher-level multisensory interactions...... in cataract patients. The present results suggest that basic cross-modal integrative processes for simple short stimuli do not depend on visual and/or crossmodal input since birth....

  12. Basic multisensory functions can be acquired after congenital visual pattern deprivation in humans.

    Science.gov (United States)

    Putzar, Lisa; Gondan, Matthias; Röder, Brigitte

    2012-01-01

    People treated for bilateral congenital cataracts offer a model to study the influence of visual deprivation in early infancy on visual and multisensory development. We investigated cross-modal integration capabilities in cataract patients using a simple detection task that provided redundant information to two different senses. In both patients and controls, redundancy gains were consistent with coactivation models, indicating an integrated processing of modality-specific information. This finding is in contrast with recent studies showing impaired higher-level multisensory interactions in cataract patients. The present results suggest that basic cross-modal integrative processes for simple short stimuli do not depend on visual and/or crossmodal input since birth.

  13. The Pediatric Cataract Register (PECARE)

    DEFF Research Database (Denmark)

    Haargaard, Birgitte; Nyström, Alf; Rosensvärd, Annika

    2015-01-01

    examination with a pencil light at age 5 weeks, whereas newborn red reflex examination using a handheld ophthalmoscope is routine protocol in Swedish maternity wards. Data regarding age of referral were derived from the Pediatric Cataract Register (PECARE). All children operated on before 1 year of age...

  14. Congenital amusias.

    Science.gov (United States)

    Tillmann, B; Albouy, P; Caclin, A

    2015-01-01

    In contrast to the sophisticated music processing reported in the general population, individuals with congenital amusia show deficits in music perception and production. Congenital amusia occurs without brain damage, sensory or cognitive deficits, and has been suggested as a lifelong deficit with genetic origin. Even though recognized for a long time, this disorder has been systematically studied only relatively recently for its behavioral and neural correlates. The currently most investigated hypothesis about the underlying deficits concerns the pitch dimension, notably with impaired pitch discrimination and memory. Anatomic and functional investigations of pitch processing revealed that the amusic brain presents abnormalities in the auditory and inferior frontal cortices, associated with decreased connectivity between these structures. The deficit also impairs processing of pitch in speech material and processing of the time dimension in music for some of the amusic individuals, but does not seem to affect spatial processing. Some studies suggest at least partial dissociation in the disorder between perception and production. Recent studies revealed spared implicit pitch perception in congenital amusia, supporting the power of implicit cognition in the music domain. Current challenges consist in defining different subtypes of congenital amusia as well as developing rehabilitation programs for this "musical handicap." © 2015 Elsevier B.V. All rights reserved.

  15. Patient satisfaction with cataract surgery

    Directory of Open Access Journals (Sweden)

    Wasfi Ehab I

    2008-10-01

    Full Text Available Abstract Introduction Measuring the patient satisfaction is a very important issue that will help very much in improving the service provided to patients and improve the level of satisfaction. Aim To evaluate patient satisfaction with the cataract surgery service and identify any areas for improvement, determination of patient satisfaction with referral, out-patient consultation, pre-assessment clinic, surgery and post-operative care, also to report patients' comments relating to improvement in service provision. Methodology A retrospective study was undertaken for 150 patients underwent cataract surgery at Barrow General Hospital, UK, the survey sample was by postal questionnaires. We collected our data from the theatre lists for a period of 4 month. Results This study included 150 patients; the response rate was (72% 108 patients, Most patients were referred from their general practitioner 86.1%, 93 (86.1% patients were happy with the time interval from seeing their GP to eye clinic. In the eye out patient department many factors significantly affected the level of patient satisfaction, in general the more information provided for the patient the more the satisfaction. Conclusion Patient satisfaction is on important health outcome old understanding both the domains of satisfaction as well as their relative importance to patients is necessary to improve the overall quality of patient care. Meeting the doctor, presenting all relevant information and giving printed information are very important factors in improving the patient's satisfaction with cataract surgery.

  16. The global state of cataract blindness.

    Science.gov (United States)

    Lee, Cameron M; Afshari, Natalie A

    2017-01-01

    Cataracts are a significant cause of blindness and visual impairment worldwide. The present article reviews the literature and describes the current extent of cataracts globally, barriers to treatment, and recommendations for improving the treatment of cataracts. Prevalence and absolute number of blind because of cataracts remain high, although rates are declining in many areas globally. The age-standardized prevalence of blindness in adults older than 50 remains highest in western sub-Saharan Africa, with a rate of 6.0%. The greatest declines in age-standardized blindness because of cataracts in adults older than 50 between 1990 and 2010 were in East Asia, tropical Latin America, and western Europe. Recent studies have largely found higher rates of cataracts in women than in men. A new simulator for training ophthalmologists in manual small-incision cataract surgery holds promise for the future. The rates of cataract surgery are increasing and postoperative outcomes are improving worldwide, yet challenges to reducing the cataract burden further remain. Cost, an insufficient number of ophthalmologists, and low government funding remain significant barriers but investment in further eye care infrastructure and training of additional ophthalmologists would improve the current situation.

  17. Cataracts, radiculomegaly, septal heart defects and hearing loss in two unrelated adult females with normal intelligence and similar facial appearance : Confirmation of a syndrome

    NARCIS (Netherlands)

    Aalfs, CM; Oosterwijk, JC; VanSchooneveld, MJ; Begeman, CJ; Wabeke, KB; Hennekam, RCM

    Two unrelated, adult females with normal intelligence are described. They show a similar clinical picture with a long and narrow face, congenital cataract, microphthalmia, microcornea, a high nasal bridge, a short nose, a broad nasal tip, a long philtrum, bilateral hearing loss, persistent primary

  18. Unfolded-protein response-associated stabilization of p27(Cdkn1b) interferes with lens fiber cell denucleation, leading to cataract

    Science.gov (United States)

    Failure of lens fiber cell denucleation (LFCD) is associated with congenital cataracts, but the pathobiology awaits elucidation. Recent work has suggested that mechanisms that direct the unidirectional process of LFCD are analogous to the cyclic processes associated with mitosis. We found that lens-...

  19. The genetic landscape of familial congenital hydrocephalus.

    Science.gov (United States)

    Shaheen, Ranad; Sebai, Mohammed Adeeb; Patel, Nisha; Ewida, Nour; Kurdi, Wesam; Altweijri, Ikhlass; Sogaty, Sameera; Almardawi, Elham; Seidahmed, Mohammed Zain; Alnemri, Abdulrahman; Madirevula, Sateesh; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Al-Sheddi, Tarfa; Alomar, Rana; Alobeid, Eman; Sallout, Bahauddin; AlBaqawi, Badi; AlAali, Wajeih; Ajaji, Nouf; Lesmana, Harry; Hopkin, Robert J; Dupuis, Lucie; Mendoza-Londono, Roberto; Al Rukban, Hadeel; Yoon, Grace; Faqeih, Eissa; Alkuraya, Fowzan S

    2017-06-01

    Congenital hydrocephalus is an important birth defect, the genetics of which remains incompletely understood. To date, only 4 genes are known to cause Mendelian diseases in which congenital hydrocephalus is the main or sole clinical feature, 2 X-linked (L1CAM and AP1S2) and 2 autosomal recessive (CCDC88C and MPDZ). In this study, we aimed to determine the genetic etiology of familial congenital hydrocephalus with the assumption that these cases represent Mendelian forms of the disease. Exome sequencing combined, where applicable, with positional mapping. We identified a likely causal mutation in the majority of these families (21 of 27, 78%), spanning 16 genes, none of which is X-linked. Ciliopathies and dystroglycanopathies were the most common etiologies of congenital hydrocephalus in our cohort (19% and 26%, respectively). In 1 family with 4 affected members, we identified a homozygous truncating variant in EML1, which we propose as a novel cause of congenital hydrocephalus in addition to its suggested role in cortical malformation. Similarly, we show that recessive mutations in WDR81, previously linked to cerebellar ataxia, mental retardation, and disequilibrium syndrome 2, cause severe congenital hydrocephalus. Furthermore, we confirm the previously reported candidacy of MPDZ by presenting a phenotypic spectrum of congenital hydrocephalus associated with 5 recessive alleles. Our study highlights the importance of recessive mutations in familial congenital hydrocephalus and expands the locus heterogeneity of this condition. Ann Neurol 2017;81:890-897. © 2017 American Neurological Association.

  20. Congenital Hydrocephalus.

    Science.gov (United States)

    Estey, Chelsie M

    2016-03-01

    There are several types of hydrocephalus, which are characterized based on the location of the cerebrospinal fluid (CSF) accumulation. Physical features of animals with congenital hydrocephalus may include a dome-shaped skull, persistent fontanelle, and bilateral ventrolateral strabismus. Medical therapy involves decreasing the production of CSF. The most common surgical treatment is placement of a ventriculoperitoneal shunt. Postoperative complications may include infection, blockage, drainage abnormalities, and mechanical failure. Copyright © 2016 Elsevier Inc. All rights reserved.

  1. Congenital diplopodia

    International Nuclear Information System (INIS)

    Brower, Jason S.; Wootton-Gorges, Sandra L.; Costouros, John G.; Boakes, Jennette; Greenspan, Adam

    2003-01-01

    Diplopodia, or duplicated foot, is a rare congenital anomaly. It differs from polydactyly in that supernumerary metatarsal and tarsal bones are present as well as extra digits. Only a few cases of this anomaly have been reported in the literature to date. We present a newborn male without intrauterine teratogen exposure who was born with a duplicate foot of the left lower extremity and imperforate anus. (orig.)

  2. Congenital toxoplasmosis.

    Science.gov (United States)

    Kieffer, François; Wallon, Martine

    2013-01-01

    Congenital toxoplasmosis results from the transplacental transmission of the parasite Toxoplasma gondii after a maternal infection acquired in pregnancy. Prevalence of congenital infection ranges from 0.1 to 0.3 per 1000 live births. The maternal-fetal transmission rate increases with gestational age at maternal seroconversion, from less than 15% at 13 weeks of gestation to over 70% at 36 weeks. Conversely, the later the maternal infection, the lower the risk of symptomatic congenital infection (infections acquired during the third trimester are most often asymptomatic at birth). Prenatal diagnosis is currently performed by PCR analysis in amniotic fluid. Antenatal management and treatment vary considerably among countries. In some European countries, maternal infections are detected through serological screening allowing a prompt treatment with spiramycin, which is expected to reduce the risk of vertical transmission. If PCR analysis in amniotic fluid is positive or if maternal infection was acquired in the third trimester of pregnancy, a combination with pyrimethamine and sulphonamide is given until delivery. Benefits of antenatal treatments remain controversial. Infected newborns are prescribed pyrimethamine and sulphonamide for 12 months. Despite antenatal and postnatal treatment, chorioretinitis can occur at any age (prevalence>20% at 10 years of age): long-term ophthalmological follow-up remains necessary. Copyright © 2013 Elsevier B.V. All rights reserved.

  3. Visual Outcome of Cataract Surgery | Ukponmwan | Nigerian ...

    African Journals Online (AJOL)

    Purpose: To assess the visu al ou tcome of cataract su rgery in a tertiary hosp ital in Nigeria. Methods: Three hu nd red and seventy eyes (370) that had cataract su rgery in the op hthalmology d ep artment of University of Benin Teaching Hosp ital (UBTH) from July 2007 to December 2008 were includ ed in the stu d y.

  4. Evaluation of Complications of Extracapsular Cataract Extraction ...

    African Journals Online (AJOL)

    hanumantp

    Department of Ophthalmology, University of Nigeria Teaching Hospital, Enugu, 1Department of Ophthalmology, Guinness. Eye Centre, Onitsha, Nigeria. Abstract .... Br J Ophthalmol 2007;91:1315‑7. 6. Hennig A. Sutureless non‑phaco cataract surgery: A solution to reduce worldwide cataract blindness? Community Eye.

  5. Retrobulbar versus subconjunctival anesthesia for cataract surgery ...

    African Journals Online (AJOL)

    Objectives: To compare the effectiveness, in terms of pain relief and akinesia of retrobulbar and subconjunctival an aesthesia during cataract surgery and also to compare the degree of postoperative ptosis associated with each technique. Materials and Methods: Consecutive adult patients undergoing cataract surgery ...

  6. Prevalence of Cataract Blindness in Rural Ethiopia

    African Journals Online (AJOL)

    Bernt Lindtjørn

    Background: Over three-quarter of all blindness worldwide are preventable and usually caused by cataract and trachoma. Objective: To assess the ... Ophthalmologists from other areas conduct cataract operations once or twice each ... Some patients may have two eyes disorder causing visual impairment. The accepted ...

  7. Visual function of cataract with high myopia

    Directory of Open Access Journals (Sweden)

    Jian-Tao Ren

    2013-09-01

    Full Text Available Cataract with high myopia is research priority associated with the large amount of high myopia patients. The unaided visual acuity and the best-corrected visual acuity are partial for the visual acuity of the patients with cataract. The mechanism and clinical significance of modern visual function measurements associated with cataract and high myopia, including accommodation and convergence, stereoscopic vision, contrast sensitivity, have been introduced. These measurements could be of great value in early diagnosis of cataract, assessment of surgical indication, customized intraocular lens(IOLselection and evaluation of visual performance after IOL implantation. They could also be helpful to the analysis of postoperative impaired visual function and its management. Having an adequate understanding of the contents and significance of visual function was helpful to the improvement of cataract surgery techniques and postoperative visual acuity.

  8. X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

    DEFF Research Database (Denmark)

    Møller, R S; Jensen, L R; Maas, S M

    2014-01-01

    , hypogonadism and feeding difficulties. Female carriers are often phenotypically normal or show a similar but milder phenotype, as in most cases the X-chromosome harbouring the duplication is subject to inactivation. Xq28, which includes MECP2 is the major locus for submicroscopic X-chromosome duplications......, whereas duplications in Xq25 and Xq26 have been reported in only a few cases. Using genome-wide array platforms we identified overlapping interstitial Xq25q26 duplications ranging from 0.2 to 4.76 Mb in eight unrelated families with in total five affected males and seven affected females. All affected...... males shared a common phenotype with intrauterine- and postnatal growth retardation and feeding difficulties in childhood. Three had microcephaly and two out of five suffered from epilepsy. In addition, three males had a distinct facial appearance with congenital bilateral ptosis and large protruding...

  9. Femtosecond laser-assisted compared with standard cataract surgery for removal of advanced cataracts.

    Science.gov (United States)

    Hatch, Kathryn M; Schultz, Tim; Talamo, Jonathan H; Dick, H Burkhard

    2015-09-01

    To compare effective phacoemulsification time (EPT) for the removal of brunescent cataracts treated with femtosecond laser-assisted cataract surgery with standard cataract phacoemulsification techniques. Ruhr University Eye Hospital, Bochum, Germany. Comparative prospective case study. The Lens Opacities Classification System III (LOCS III) grading system was used to measure eyes divided into 4 groups having cataract surgery. Groups 1 and 2 contained eyes with LOCS III grade nuclear opalescence (NO) 3 cataracts treated with standard cataract surgery and femtosecond laser-assisted cataract surgery, respectively. Groups 3 and 4 contained brunescent cataracts, LOCS III grades NO5, treated with standard cataract surgery and femtosecond laser-assisted cataract surgery, respectively. There were 240 eyes, with 60 eyes in each group. The EPT in Group 1 ranged from 0.46 to 3.10 (mean 1.38); the EPT in all eyes in Group 2 was 0 (P Talamo, and Dick are consultants to Abbott Medical Optics, Inc. Dr. Schultz has no financial or proprietary interest in any material or method mentioned. Copyright © 2015 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

  10. Identification of cataract and post-cataract surgery optical images using artificial intelligence techniques.

    Science.gov (United States)

    Acharya, Rajendra Udyavara; Yu, Wenwei; Zhu, Kuanyi; Nayak, Jagadish; Lim, Teik-Cheng; Chan, Joey Yiptong

    2010-08-01

    Human eyes are most sophisticated organ, with perfect and interrelated subsystems such as retina, pupil, iris, cornea, lens and optic nerve. The eye disorder such as cataract is a major health problem in the old age. Cataract is formed by clouding of lens, which is painless and developed slowly over a long period. Cataract will slowly diminish the vision leading to the blindness. At an average age of 65, it is most common and one third of the people of this age in world have cataract in one or both the eyes. A system for detection of the cataract and to test for the efficacy of the post-cataract surgery using optical images is proposed using artificial intelligence techniques. Images processing and Fuzzy K-means clustering algorithm is applied on the raw optical images to detect the features specific to three classes to be classified. Then the backpropagation algorithm (BPA) was used for the classification. In this work, we have used 140 optical image belonging to the three classes. The ANN classifier showed an average rate of 93.3% in detecting normal, cataract and post cataract optical images. The system proposed exhibited 98% sensitivity and 100% specificity, which indicates that the results are clinically significant. This system can also be used to test the efficacy of the cataract operation by testing the post-cataract surgery optical images.

  11. Congenital syphilis

    International Nuclear Information System (INIS)

    Lee, Sang Wook; Kim, Kyung Soo; Hur, Don

    1983-01-01

    In recent years, marked increase in incidence of congenital syphilis has occurred throughout the world due to changes in social norms and development of penicillin-resistant strains. Early diagnosis plays an important role in congenital syphilis as the clinical manifestations may simulate many other conditions in the paediatric age group. The authors analyzed 52 cases of congenital syphilis admitted to the department of paediatrics, Chosun University Hospital, clinically and radiologically. Among them, 18 cases were born in this hospital and 34 cases were admitted from OPD, during the period of 8 years from January, 1975 to December, 1982. The results obtained were as follows; 1. In 28 of 34 cases (82%), the first clinical manifestations were below the age of 3 months. 2. Among the 52 cases, a male predominance was observed with a male to female ratio of 2 : 1. 3. The serologic test (VDRL) of the 52 studied cases showed reactive response in 49 cases (94%), and that of syphilitic mothers except 6 cases, reactive in all studied cases. 4. The major manifestations of the 52 cases were bone tenderness (12%) and swelling of the joints (7%) in skeletal system, hepatosplenomegaly (79%) and skin lesions (73%) in extraskeletal one. 5. The radiological skeletal changes were detected in 45 of 52 cases (87%), and the commonest findings were detected in 45 of 52 cases (87%), and the commonest findings were metaphysitis (83%) and periostitis (81%). The most characteristic type of metaphysitis were transverse trophic line (74%) and zone of rarefaction (65%). 6. The commonest bones to be affected were growing metaphyses of the long bones, particulary about the wrist and the knee. The order of frequency were radius (80%), uina (80%), tibia (77%), femur (69%) and humerus (40%)

  12. Childhood Cataract: Magnitude, Management, Economics and Impact

    Directory of Open Access Journals (Sweden)

    BR Shamanna

    2004-01-01

    Full Text Available The prevalence of blindness among children in different regions varies from 0.2/1000 children to over 1.5/1000 children with a global figure estimated at 0.7/1000. This means that there are an estimated 1.4 million blind children worldwide.1 The proportion of blindness in children due to cataract varies considerably between regions from 10%-30% with a global average estimated at 14%, giving 190,000 children blind from cataract. 2 While the magnitude of childhood cataracts varies from place to place, it is a priority within all blindness control programmes for children. Children who are blind have to overcome a lifetime of emotional, social and economic difficulties which affect the child, the family and society.3 Loss of vision in children influences their education, employment and social life. The numbers blind with cataract do not reflect the years of disability and lost quality of life. Childhood blindness is second only to adult cataract as a cause of blind-person years. Approximately 70 million blind-person years are caused by childhood blindness of which about 10 million blind-person years (14% is due to childhood cataract. Timely recognition and intervention can eliminate blind-years due to childhood cataract, as the condition is treatable.

  13. Sutureless Cataract Surgery: Principles and Steps

    Directory of Open Access Journals (Sweden)

    John Sandford-Smith

    2003-01-01

    Full Text Available Introduction. Cataracts cause about 50% of world blindness. There is little likelihood of effective prevention becoming available in the next few years and so the only treatment will remain surgical. For many of the other major causes of world blindness, like trachoma, xerophthalmia and onchocerciasis, the remedy is community-based, not hospital-based, and requires prevention rather than treatment. The prevalence of blinding cataract will only increase as people live longer, so cataract will continue to be, by far, the most important treatable cause of blindness.

  14. Cataracts

    Science.gov (United States)

    ... NEI Intranet (Employees Only) *PDF files require the free Adobe® Reader® software for viewing. This website is maintained by the NEI Office of Science Communications, Public Liaison, and Education. Technical questions about this website can be addressed ...

  15. Congenital amusia.

    Science.gov (United States)

    Williamson, Victoria J; Stewart, Lauren

    2013-01-01

    For most people, music, like language, is acquired effortlessly in early life. But a few percent of the population have lifelong difficulties in the perception and production of music. In this chapter we discuss psycho-acoustic and behavioral studies that have attempted to delineate the nature of the auditory perceptual deficits in this group and consider whether these difficulties extend outside the musical domain. Finally, we review structural imaging studies in this group which point to subtle anomalies in temporal and frontal areas. We suggest that amusia can be considered a disorder of neural development, which has relatively specific consequences at the behavioral level. Studies of congenital amusia provide a unique window on the neurocognitive architecture of music processing. Copyright © 2013 Elsevier B.V. All rights reserved.

  16. A66G and C524T polymorphisms of methionine synthase reductase gene are linked to the development of acyanotic congenital heart diseases in Egyptian children.

    Science.gov (United States)

    Hassan, Fahima M; Khattab, Ahmad A; Abo El Fotoh, Wafaa Moustafa M; Zidan, Reham S

    2017-09-20

    Methionine synthase reductase (MTRR) is one of the main regulatory enzymes in the homocysteine/folate pathway. Genes involved in this pathway may play an important role in the development of congenital heart diseases (CHDs). C524T and A66G polymorphisms of MTRR gene may play an imperative role in the development of acyanotic CHDs. This study carried out on 200 children equally divided into 2 groups: group I: 100 children with acyanotic CHDs; and group II: 100 healthy children served as controls. PCR-RFLP method carried out to amplify the A66G and C524T polymorphisms of MTRR gene digested with Xho1and NdeI enzymes. A significant difference(P=0.015) in genotype frequencies of C524T polymorphism between cases and controls, where CC, CT, and TT were 14.0%, 40.0% and 46.0% in patients compared to 38.0,36.0% and 26.0% in controls. Again, a significant difference (P=0.010) in genotype frequencies of A66G polymorphism between the two groups as AA, AG and GG were 26.0%, 32.0% and42.0% in patients compared to 48.0, 36.0% and 16.0% in controls. Also, MTRR A66G and C524T polymorphisms were associated with a higher CHD risk in the homozygote comparison of wild and mutant genotypes and also in heterozygote and mutant comparison. So A66G and C524T polymorphisms of MTRR gene are associated with increased risk of acyanotic CHDs. Copyright © 2017 Elsevier B.V. All rights reserved.

  17. Malignant glaucoma after cataract surgery.

    Science.gov (United States)

    Varma, Devesh K; Belovay, Graham W; Tam, Diamond Y; Ahmed, Iqbal Ike K

    2014-11-01

    To report a series of eyes that developed malignant glaucoma after cataract surgery. Private academic practice, Toronto, Ontario, Canada. Retrospective case series. Eyes that developed malignant glaucoma after cataract surgery were treated with medical therapy. This was followed by laser iridozonulohyaloidotomy, anterior chamber reformation and intraocular lens (IOL) pushback, and finally with surgical iridozonulohyaloidovitrectomy if all other measures were unsuccessful. Refraction, intraocular pressure (IOP), gonioscopy, and anterior chamber depth (ACD) by anterior segment optical coherence tomography were analyzed before treatment and after treatment. The study evaluated 20 eyes of 18 female patients aged 44 to 86 years. Preoperatively, the mean refraction was +3.11 diopters (D) ± 2.89 (SD), the mean axial length was 21.30 ± 1.40 mm, and all eyes had narrow or closed angles. Malignant glaucoma was diagnosed a mean of 5.8 ± 7.1 weeks postoperatively. At diagnosis, the mean refraction was -2.15 ± 2.95 D; the mean ACD, 2.49 ± 0.72 mm; and the mean IOP, 28.3 ± 10.8 mm Hg on a mean of 1.3 ± 1.6 medications. Two eyes responded to cycloplegia, 7 to laser iridozonulohyaloidotomy, and 6 to anterior chamber reformation-IOL pushback; 5 eyes required vitrectomy. Posttreatment, the mean refraction was -0.56 ± 1.07 D; the mean ACD, 3.30 ± 0.50 mm; and the mean IOP, 14.4 ± 4.60 mm Hg on a mean of 1.2 ± 1.4 medications. Cycloplegia was discontinued in 17 eyes. Malignant glaucoma can occur after phacoemulsification and presents with myopic surprise, anterior chamber shallowing and, possibly, elevated IOP. No author has a financial or proprietary interest in any material or method mentioned. Copyright © 2014 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

  18. Dexmedetomidine premedication in cataract surgery under topical ...

    African Journals Online (AJOL)

    0.0001). Noticably, the incidence of dry mouth was higher in group D. Hemodynamic parameters were well maintained in both groups with no adverse events in either group. Conclusions: Dexmedetomidine can be used safely for cataract ...

  19. clinical characteristics of cataract patients with pseudoexfoliation

    African Journals Online (AJOL)

    User

    the clinical characteristics of pseudoexfoliation syndrome among cataract patients examined at ... CONCLUSION: A significant number of patients with PEX had poor zonular integrity and high IOP ... Poor zonular integrity may give rise to.

  20. Economic Constraints in Managing Complicated Cataracts

    African Journals Online (AJOL)

    role in the access to Healthcare Service and Resources ... Patients face financial ... environment presents unusual challenges with the management of even the simplest conditions ... in association with a cataract has been described in.

  1. Long term ocular and neurological involvement in severe congenital toxoplasmosis.

    Science.gov (United States)

    Meenken, C; Assies, J; van Nieuwenhuizen, O; Holwerda-van der Maat, W G; van Schooneveld, M J; Delleman, W J; Kinds, G; Rothova, A

    1995-06-01

    This study was set up to determine the long term ocular and systemic sequelae in patients with severe congenital toxoplasmosis. Cross sectional and retrospective study of 17 patients with severe congenital toxoplasmosis. In addition to chorioretinitis (100%), the most common abnormal ocular features were optic nerve atrophy (83%), visual acuity of less than 0.1 (85%), strabismus, and microphthalmos. In 50% of cases we observed iridic abnormalities and about 40% developed a cataract. Overt endocrinological disease, diagnosed in five of 15 patients, included panhypopituitarism (n = 2), gonadal failure with dwarfism (n = 1), precocious puberty with dwarfism and thyroid deficiency (n = 1), and diabetes mellitus and thyroid deficiency (n = 1). The observed endocrinological involvement was associated in all cases with obstructive hydrocephalus with a dilated third ventricle and optic nerve atrophy. The recognition of long term ocular, neurological, and endocrinological sequelae of congenital toxoplasmosis is important for medical management of these severely handicapped patients.

  2. Fluorometholone-induced cataract after photorefractive keratectomy.

    Science.gov (United States)

    Bilgihan, K; Gürelik, G; Akata, F; Hasanreisoglu, B

    1997-01-01

    The use of topical corticosteroids following photorefractive keratectomy (PRK) is widespread. The major complications of potent corticosteroids are glaucoma and cataract formation; in order to decrease these complications, 0.1% fluorometholone administration is usually preferred after PRK. We report here a case of lens opacification which was induced by 0.1% fluorometholone administration after PRK in a period of 4 months. To our knowledge, this is the first reported case of 0.1% fluorometholone-induced cataract after PRK.

  3. Evaluation of a Public Child Eye Health Tertiary Facility for Pediatric Cataract in Southern Nigeria I: Visual Acuity Outcome

    Science.gov (United States)

    Duke, Roseline E.; Adio, Adedayo; Oparah, Sidney K.; Odey, Friday; Eyo, Okon A.

    2016-01-01

    Purpose: A retrospective study of the outcome of congenital and developmental cataract surgery was conducted in a public child eye health tertiary facility in children <16 years of age in Southern Nigeria, as part of an evaluation. Materials and Method: Manual Small Incision Cataract Surgery with or without anterior vitrectomy was performed. The outcome measures were visual acuity (VA) and change (gain) in visual acuity. The age of the child at onset, duration of delay in presentation, ocular co-morbidity, non ocular co-morbidity, gender, and pre operative visual acuity were matched with postoperative visual acuity. A total of 66 children were studied for a period of six weeks following surgery. Results: Forty eight (72.7%) children had bilateral congenital cataracts and 18 (27.3%) children had bilateral developmental cataracts. There were 38(57.6%) males and 28 (42.4%) females in the study. Thirty Five (53%) children had good visual outcome (normal vision range 6/6/ -6/18) post-operatively. The number of children with blindness (vision <3/60) decreased from 61 (92.4%) pre-operatively to 4 (6.1%) post-operatively. Post operative complication occurred in 6.8% of cases six week after surgery. Delayed presentation had an inverse relationship with change (gain) in visual acuity (r = - 0.342; p-value = 0.005). Pre-operative visual acuity had a positive relationship with post operative change (gain) in visual acuity (r = 0.618; p-value = 0.000). Conclusion: Predictors of change in visual acuity in our study were; delayed presentation and pre-operative VA. Cataract surgery in children showed clinical benefit. PMID:27347247

  4. Cataract incidence after total-body irradiation

    International Nuclear Information System (INIS)

    Zierhut, D.; Lohr, F.; Schraube, P.; Huber, P.; Haas, R.; Hunstein, W.; Wannenmacher, M.

    1997-01-01

    Purpose: Aim of this retrospective study was to evaluate cataract incidence in a homogeneous group of patients after total-body irradiation followed by autologous bone marrow transplantation or peripheral blood stem cell transplantation. Method and Materials: Between 11/1982 and 6/1994 in total 260 patients received in our hospital total-body irradiation for treatment of haematological malignancy. In 1996-96 patients out of these 260 patients were still alive. 85 from these still living patients (52 men, 33 women) answered evaluable on a questionnaire and could be examined ophthalmologically. Median age of these patients was 38,5 years (15 - 59 years) at time of total-body irradiation. Radiotherapy was applied as hyperfractionated total-body irradiation with a median dose of 14,4 Gy in 12 fractions over 4 days. Minimum time between fractions was 4 hours, photons with a energy of 23 MeV were used, and the dose rate was 7 - 18 cGy/min. Results: Median follow-up is now 5,8 years (1,7 - 13 years). Cataract occurred in (28(85)) patients after a median time of 47 months (1 - 104 months). In 6 out of these 28 patients who developed a cataract, surgery of the cataract was performed. Whole-brain irradiation prior to total-body irradiation was more often in the group of patients developing a cataract (14,3%) vs. 10,7% in the group of patients without cataract. Conclusion: Cataract is a common side effect of total-body irradiation. Cataract incidence found in our patients is comparable to results of other centres using a fractionated regimen for total-body irradiation. The hyperfractionated regimen used in our hospital does obviously not result in a even lower cataract incidence. In contrast to acute and late toxicity in other organ/organsystems, hyperfractionation of total-body irradiation does not further reduce toxicity for the eye-lens. Dose rate may have more influence on cataract incidence

  5. [Congenital hypothyroidism].

    Science.gov (United States)

    Castilla Peón, María Fernanda

    Congenital hypothyroidism (CH) is a cause of preventable mental retardation; therefore, timely diagnosis and treatment by the primary care physician is very important. CH screening must be performed between the second and fifth days of life with capillary blood done with a heel prick and must be confirmed by measurement of thyroid hormones in venous blood. The most common cause of CH is thyroid dysgenesis, which may be identified by a thyroid scan carried out before initiating treatment. Treatment should be with levothyroxine (10-15μg/kg/day) and should not be delayed or suspended during the first 3 years of life due to the deleterious effect on neurodevelopment in case of low thyroid hormones during this time. Preterm or sick infants or those with Down syndrome require special consideration. This article provides diagnostic and therapeutic algorithms for CH. Copyright © 2015 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  6. Secondary reduction of alpha7B integrin in laminin alpha2 deficient congenital muscular dystrophy supports an additional transmembrane link in skeletal muscle.

    Science.gov (United States)

    Cohn, R D; Mayer, U; Saher, G; Herrmann, R; van der Flier, A; Sonnenberg, A; Sorokin, L; Voit, T

    1999-03-01

    The integrins are a large family of heterodimeric transmembrane cellular receptors which mediate the association between the extracellular matrix (ECM) and cytoskeletal proteins. The alpha7beta1 integrin is a major laminin binding integrin in skeletal and cardiac muscle and is thought to be involved in myogenic differentiation and migration processes. The main binding partners of the alpha7 integrin are laminin-1 (alpha1-beta1-gamma1), laminin-2 (alpha2-beta1-gamma1) and laminin-4 (alpha2-beta2-gamma1). Targeted deletion of the gene for the alpha7 integrin subunit (ITGA7) in mice leads to a novel form of muscular dystrophy. In the present study we have investigated the expression of two alternative splice variants, the alpha7B and beta1D integrin subunits, in normal human skeletal muscle, as well as in various forms of muscular dystrophy. In normal human skeletal muscle the expression of the alpha7 integrin subunit appeared to be developmentally regulated: it was first detected at 2 years of age. In contrast, the beta1D integrin could be detected in immature and mature muscle in the sarcolemma of normal fetal skeletal muscle at 18 weeks gestation. The expression of alpha7B integrin was significantly reduced at the sarcolemma in six patients with laminin alpha2 chain deficient congenital muscular dystrophy (CMD) (age >2 years). However, this reduction was not correlated with the amount of laminin alpha2 chain expressed. In contrast, the expression of the laminin alpha2 chain was not altered in the skeletal muscle of the alpha7 knock-out mice. These data argue in favor that there is not a tight correlation between the expression of the alpha7 integrin subunit and that of the laminin alpha2 chain in either human or murine dystrophic muscle. Interestingly, in dystrophinopathies (Duchenne and Becker muscular dystrophy; DMD/BMD) expression of alpha7B was upregulated irrespective of the level of dystrophin expression as shown by a strong sarcolemmal staining pattern even

  7. The carbon footprint of cataract surgery.

    Science.gov (United States)

    Morris, D S; Wright, T; Somner, J E A; Connor, A

    2013-04-01

    Climate change is predicted to be one of the largest global health threats of the 21st century. Health care itself is a large contributor to carbon emissions. Determining the carbon footprint of specific health care activities such as cataract surgery allows the assessment of associated emissions and identifies opportunities for reduction. To assess the carbon footprint of a cataract pathway in a British teaching hospital. This was a component analysis study for one patient having first eye cataract surgery in the University Hospital of Wales, Cardiff. Activity data was collected from three sectors, building and energy use, travel and procurement. Published emissions factors were applied to this data to provide figures in carbon dioxide equivalents (CO2eq). The carbon footprint for one cataract operation was 181.8 kg CO2eq. On the basis that 2230 patients were treated for cataracts during 2011 in Cardiff, this has an associated carbon footprint of 405.4 tonnes CO2eq. Building and energy use was estimated to account for 36.1% of overall emissions, travel 10.1% and procurement 53.8%, with medical equipment accounting for the most emissions at 32.6%. This is the first published carbon footprint of cataract surgery and acts as a benchmark for other studies as well as identifying areas for emissions reduction. Within the procurement sector, dialogue with industry is important to reduce the overall carbon footprint. Sustainability should be considered when cataract pathways are designed as there is potential for reduction in all sectors with the possible side effects of saving costs and improving patient care.

  8. Endogenous retroviral insertion in Cryge in the mouse No3 cataract mutant

    Science.gov (United States)

    Nag, Nabanita; Peterson, Katherine; Wyatt, Keith; Hess, Sonja; Ray, Sugata; Favor, Jack; Bogani, Debora; Lyon, Mary; Wistow, Graeme

    2007-01-01

    No3 (nuclear opacity 3) is a novel congenital nuclear cataract in mice. Microsatellite mapping placed the No3 locus on chromosome 1 between D1Mit480 (32cM) and D1Mit7 (41cM), a region containing seven crystallin genes; Cryba2 and the Cryga-Crygf cluster. Although polymorphic variants were observed, no candidate mutations were found for six of the genes. However, DNA walking identified a murine endogenous retrovirus (IAPLTR1: ERVK) insertion in exon 3 of Cryge, disrupting the coding sequence for γE-crystallin. Recombinant protein for the mutant γE was completely insoluble. The No3 cataract is mild compared with the effects of similar mutations of γE. Quantitative RT-PCR showed that γE/F mRNA levels are reduced in No3, suggesting that the relatively mild phenotype results from suppression of γE levels due to ERVK insertion. However, the severity of cataract is also strain dependent suggesting that genetic background modifiers also play a role in the development of opacity. PMID:17223009

  9. Using corneal topography design personalized cataract surgery programs

    Directory of Open Access Journals (Sweden)

    Jin-Ou Huang

    2014-08-01

    Full Text Available AIM:To investigate how to design personalized cataract surgery programs to achieve surgical correction of preoperative corneal astigmatism with surgical astigmatism under the guidance of corneal topography, improve postoperative visual quality and reduce the cost of treatment. METHODS: Totally 202 cases(226 eyescataract patients were divided into randomized treatment group and individualized treatment group. According to the method and location of the incision, randomized treatment group were divided into 8 groups. Surgical astigmatism after different incision were calculated with the use of preoperative and postoperative corneal astigmatism through vector analysis method. Individualized treatment groups were designed personably for surgical method with reference of every surgically induced astigmatism, the surgical method chooses the type of surgical incision based on close link between preoperative corneal astigmatism and surgically induced astigmatism, and the incision was located in the steep meridian. The postoperative corneal astigmatism of individualized treatment group was observed. RESULTS: Postoperative corneal astigmatism of individualized treatment group were lower than that of 3.0mm clear corneal tunnel incision in the randomized treatment group, there were statistically significance difference, while with 3.0mm sclera tunnel incision group there were no statistically significance difference. After 55.8% of patients with the use of individualized surgical plan could undergo the operation of extracapsular cataract extraction with relatively low cost and rigid intraocular lens implantation, the per capita cost of treatment could be reduced. CONCLUSION: Personalized cataract surgery programs are designed to achieve surgical correction of preoperative corneal astigmatism under the use of corneal topography, improve postoperative visual quality and reduce the cost of treatment.

  10. Congenital platelet function defects

    Science.gov (United States)

    ... pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital ... Congenital platelet function defects are bleeding disorders that cause reduced platelet function. Most of the time, people with these disorders have ...

  11. Congenital Heart Information Network

    Science.gov (United States)

    ... heart defects. Important Notice The Congenital Heart Information Network website is temporarily out of service. Please join ... and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright © ...

  12. Congenital heart disease

    Science.gov (United States)

    Congenital heart disease (CHD) is a problem with the heart's structure and function that is present at birth. ... Fraser CD, Kane LC. Congenital heart disease. In: Townsend CM Jr, ... Sabiston Textbook of Surgery: The Biological Basis of Modern ...

  13. Evaluation of the Community Cataract Surgical Services of a ...

    African Journals Online (AJOL)

    Evaluation of the Community Cataract Surgical Services of a University Teaching Hospital Using Cataract Surgical Coverage in Nigeria. ... Ethiopian Journal of Health Sciences. Journal Home · ABOUT THIS JOURNAL · Advanced Search ...

  14. Trainee ophthalmologists' opinions on ways to improve cataract ...

    African Journals Online (AJOL)

    2010-02-08

    Feb 8, 2010 ... D'autres incluent local production de la cataracte consommables 22 (81.5%), franchise importation d'ophtalmique ... potential decision makers and implementers of eye ... in rural areas; social welfare package making cataract.

  15. Uptake of cataract surgery in Sava Region, Madagascar: role of cataract case finders in acceptance of cataract surgery.

    Science.gov (United States)

    Razafinimpanana, Narivony; Nkumbe, Henry; Courtright, Paul; Lewallen, Susan

    2012-04-01

    The number of people coming for cataract surgery in Madagascar remains low and most ophthalmologists could do many more surgeries than currently done. Knowing why people identified with cataract do not accept surgery will help to design programs that use existing resources more effectively. The study was carried out in Sava Region of Madagascar. People with blinding (acceptance were proximity to hospital (people from Sambava district were twice as likely to present as people from more distant districts) and perceived price of transport and food (being higher for people not accepting). The actual price of surgery was not the main barrier to acceptance of surgery; instead it appears that distance to the hospital and the willingness to pay are important predictors. Strategies to improve uptake need to be revised in order to ensure that people have access to and use cataract surgical services.

  16. Relationship between cataract severity and socioeconomic status.

    Science.gov (United States)

    Wesolosky, Jason D; Rudnisky, Christopher J

    2013-12-01

    To determine the relationship between cataract severity and socioeconomic status (SES). Retrospective, observational case series. A total of 1350 eyes underwent phacoemulsification cataract extraction by a single surgeon using an Alcon Infiniti system. Cataract severity was measured using phaco time in seconds. SES was measured using area-level aggregate census data: median income, education, proportion of common-law couples, and employment rate. Preoperative best corrected visual acuity was obtained and converted to logarithm of the minimum angle of resolution values. For patients undergoing bilateral surgery, the generalized estimating equation was used to account for the correlation between eyes. Univariate analyses were performed using simple regression, and multivariate analyses were performed to account for variables with significant relationships (p < 0.05) on univariate testing. Sensitivity analyses were performed to assess the effect of including patient age in the controlled analyses. Multivariate analyses demonstrated that cataracts were more severe when the median income was lower (p = 0.001) and the proportion of common-law couples living in a patient's community (p = 0.012) and the unemployment rate (p = 0.002) were higher. These associations persisted even when controlling for patient age. Patients of lower SES have more severe cataracts. Copyright © 2013 Canadian Ophthalmological Society. Published by Elsevier Inc. All rights reserved.

  17. Congenital Intrahepatic Portosystemic Shunts

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Woong Hee; Kim, Young Tong; Jou, Sung Shick; Shin, Hyeong Cheol [Soonchunhyang University, Asan (Korea, Republic of)

    2008-12-15

    Intrahepatic portosystemic shunts are an anomalous connection between the portal vein and hepatic vein/IVC, which may be either congenital or acquired secondary to liver cirrhosis or portal hypertension. Cases of congenital intrahepatic shunts are usually encountered in children and may spontaneously resolve. We report 5 cases of congenital intrahepatic portosystemic shunts in neonates and an adult

  18. Acid phosphatase and lipid peroxidation in human cataractous lens epithelium

    Directory of Open Access Journals (Sweden)

    Vasavada Abhay

    1993-01-01

    Full Text Available The anterior lens epithelial cells undergo a variety of degenerative and proliferative changes during cataract formation. Acid phosphatase is primarily responsible for tissue regeneration and tissue repair. The lipid hydroperoxides that are obtained by lipid peroxidation of polysaturated or unsaturated fatty acids bring about deterioration of biological membranes at cellular and tissue levels. Acid phosphatase and lipid peroxidation activities were studied on the lens epithelial cells of nuclear cataract, posterior subcapsular cataract, mature cataract, and mixed cataract. Of these, mature cataractous lens epithelium showed maximum activity for acid phosphatase (516.83 moles of p-nitrophenol released/g lens epithelium and maximum levels of lipid peroxidation (86.29 O.D./min/g lens epithelium. In contrast, mixed cataractous lens epithelium showed minimum activity of acid phosphatase (222.61 moles of p-nitrophenol released/g lens epithelium and minimum levels of lipid peroxidation (54.23 O.D./min/g lens epithelium. From our study, we correlated the maximum activity of acid phosphatase in mature cataractous lens epithelium with the increased areas of superimposed cells associated with the formation of mature cataract. Likewise, the maximum levels of lipid peroxidation in mature cataractous lens epithelium was correlated with increased permeability of the plasma membrane. Conversely, the minimum levels of lipid peroxidation in mixed cataractous lens epithelium makes us presume that factors other than lipid peroxidation may also account for the formation of mixed type of cataract.

  19. Monitoring Cataract Surgical Outcome in a Public Hospital in Orlu ...

    African Journals Online (AJOL)

    Objective: To determine the proportion and causes of poor visual outcome of cataract operations done in a public hospital in southeast Nigeria and propose actions to improve the cataract surgical outcome. Method: A prospective observational analysis of the initial hundred cases of cataract operations done in Imo State ...

  20. Cataract Surgical Outreach in a Tertiary Hospital in Nigeria: An ...

    African Journals Online (AJOL)

    Odarosa M Uhumwangho

    the University of Benin Teaching Hospital (UBTH), Benin City. ... There is a great need to improve access to eye care services in general and cataract surgical ... world.[1] In Nigeria, 42.9% of blindness is caused by cataract. [2] A large number of the cataract blind have not had surgery ..... Change the definition of blindness.

  1. Photorefractive keratectomy after cataract surgery in uncommon cases: long-term results

    Directory of Open Access Journals (Sweden)

    Anna Maria Roszkowska

    2018-04-01

    Full Text Available AIM: To evaluate the efficacy and safety of the excimer laser correction of the residual refractive errors after cataract extraction with intraocular lens (IOL implantation in uncommon cases. METHODS: Totally 24 patients with high residual refractive error after cataract surgery with IOL implantation were examined. Twenty-two patients had a history of phacoemulsification and IOL implantation, and two had extra-capsular cataract extraction with IOL implantation. Detailed examination of preoperative medical records was done to explain the origin of the post-cataract refractive errors. All patients underwent photorefractire keratectomy (PRK enhancement. The mean outcome measures were refraction, uncorretted visual acuity (UCVA, best corrected visual acuity (BCVA and corneal transparency and follow up ranged from 1 to 8y. RESULTS: The principal causes of residual ametropia was inexact IOL calculation in abnormal eyes with high myopia and congenital lens abnormalities, followed by corneal astigmatism both suture induced and preexisting. After cataract surgery and before the laser enhancement the mean spherical equivalent (SE was -0.56±3 D ranging from -4.62 to +2.25 D in high myopic patients, instead it was -1±1.73 D ranging from -3.25 to +3.75 D in the astigmatic eyes, with a mean cylinder of -3.75±0 ranging from -3 to +5.50 D. After laser refractive surgery the mean SE was 0.1±0.73, ranging from -0.50 to +1.50 in the myopic group, and it was -0.50±0.57 ranging from -1.25 to +0.50 in astigmatic patients, with a mean cylinder of -0.25±0.75. In myopic patients the mean UCVA and BCVA were 0.038±0.072 logMAR and 0.018±0.04 respectively, both ranging from 0.10 to 0.0. In astigmatic patients, the mean UCVA and BCVA were 0.213±0.132 and 0.00±0.0 respectively, UCVA ranging from 0.50 to 0.22 and BCVA was 0.00. All patients presented normal corneal transparency. No ocular hypertension was detected and no corneal haze was observed. All registered

  2. Cataracts induced by microwave and ionizing radiation

    International Nuclear Information System (INIS)

    Lipman, R.M.; Tripathi, B.J.; Tripathi, R.C.

    1988-01-01

    Microwaves most commonly cause anterior and/or posterior subcapsular lenticular opacities in experimental animals and, as shown in epidemiologic studies and case reports, in human subjects. The formation of cataracts seems to be related directly to the power of the microwave and the duration of exposure. The mechanism of cataractogenesis includes deformation of heat-labile enzymes, such as glutathione peroxide, that ordinarily protect lens cell proteins and membrane lipids from oxidative damage. Oxidation of protein sulfhydryl groups and the formation of high-molecular-weight aggregates cause local variations in the orderly structure of the lens cells. An alternative mechanism is thermoelastic expansion through which pressure waves in the aqueous humor cause direct physical damage to the lens cells. Cataracts induced by ionizing radiation (e.g., X-rays and gamma rays) usually are observed in the posterior region of the lens, often in the form of a posterior subcapsular cataract. Increasing the dose of ionizing radiation causes increasing opacification of the lens, which appears after a decreasing latency period. Like cataract formation by microwaves, cataractogenesis induced by ionizing radiation is associated with damage to the lens cell membrane. Another possible mechanism is damage to lens cell DNA, with decreases in the production of protective enzymes and in sulfur-sulfur bond formation, and with altered protein concentrations. Until further definitive conclusions about the mechanisms of microwaves and ionizing radiation induced cataracts are reached, and alternative protective measures are found, one can only recommend mechanical shielding from these radiations to minimize the possibility of development of radiation-induced cataracts. 74 references

  3. Inadvertent filtering bleb following sutureless cataract surgery

    Directory of Open Access Journals (Sweden)

    Jain Sunil

    2005-01-01

    Full Text Available The case history of a sixty-two-year-old lady, who presented with a bleb in the upper part of her left eye following cataract surgery was studied. The patient had no prior history of any glaucoma surgery. Gonioscopy revealed fishmouthing of the internal aspect of the scleral tunnel incision. The diagnosis of post-cataract filtering bleb was made which was managed by resuturing the wound. This case highlights the use of gonioscopy to visualise and evaluate the internal wound and discusses intraoperative recognition of internal leak and its management with horizontal sutures.

  4. Cataract surgical rate in Yemen: 2012

    Directory of Open Access Journals (Sweden)

    Saleh A. Al-Akily

    2017-01-01

    Conclusion: CSR has increased in Yemen in the recent years but is still below the target suggested by WHO. There is need to increase the cataract surgical rate in Yemen mainly in rural areas. Inadequate number of eye surgeons, limited accessibility of cataract surgical services in rural areas and the affordability of surgery to large sections of society are major constraints that have to be addressed. The information from this study will help and enable Ministry of Health and other eye care providers to more equitably disperse trained ophthalmic personnel and eye units in Yemeni governorates.

  5. Muscle-Eye-Brain Disease; a Rare Form of Syndromic Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Gosal Gurinder S

    2011-03-01

    Full Text Available Congenital muscular dystrophy (CMD is a heterogeneous group of disorders characterized by muscular hypotonia since birth and the histologic features of muscular dystrophy. Syndromic congenital muscular dystrophies are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, lissencephaly, and eye anomalies. We present a case of a rare form of syndromic congenital muscular dystrophy in an eight year old girl, born of first- degree consanguinity. She had: global developmental delay; a seizure disorder; hypotonia; progressive muscle contractures including bilateral symmetrical flexion contractures of hips, knees, equinus contracture and thoracolumbar scoliosis; diminished deep tendon reflexes: bilateral premature cataract; pseudophakia; and nystagmus. The patient was also highly myopic. Based on clinical features, muscle biopsy and MRI of the brain, a diagnosis of muscle- eye- brain disease was made. Identification of these patients may help to prevent this crippling disorder in the future siblings of probands by utilizing genetic counselling and mutation analysis.

  6. Cost-effectiveness analysis of cataract surgery with intraocular lens implantation: extracapsular cataract extraction versus phacoemulsification

    Directory of Open Access Journals (Sweden)

    Mohd R.A. Manaf

    2007-03-01

    Full Text Available A randomized single blinded clinical trial to compare the cost-effectiveness of cataract surgery between extracapsular cataract extraction (ECCE and phacoemulsification (PEA was conducted at Hospital Universiti Kebangsaan Malaysia (HUKM from March 2000 until August 2001. The cost of a cataract surgery incurred by hospital, patients and households were calculated preoperatively, one week, two months (for both techniques and six months (for ECCE only. Effectiveness of cataract surgery was assessed using Visual Function 14 (VF-14, quality of life measurement specifically for vision. The cost analysis results from each 50 subjects of ECCE and PEA group showed that average cost for one ECCE after six months post-operation is USD 458 (± USD 72 and for PEA is USD 528 (± USD 125. VF-14 score showed a significant increased after a week, two months and six months post-operation compared to the score before operation for both techniques (p<0.001. However, there was no significant difference between them (p = 0.225. This study indicated that ECCE is more cost effective compared to PEA with cost per one unit increment of VF-14 score of USD 14 compared to USD 20 for PEA. (Med J Indones 2007; 16:25-31 Keywords: cataract, cost-effectiveness, extracapsular cataract extraction, phacoemulsification, visual function 14

  7. Cataract-free interval and severity of cataract after total body irradiation and bone marrow transplantation: influence of treatment parameters

    International Nuclear Information System (INIS)

    Kempen-Harteveld, M. Loes van; Struikmans, Henk; Kal, Henk B.; Tweel, Ingeborg van der; Mourits, Maarten; Verdonck, Leo F.; Schipper, Jan; Battermann, Jan J.

    2000-01-01

    Purpose: To determine prospectively the cataract-free interval (latency time) after total body irradiation (TBI) and bone marrow transplantation (BMT) and to assess accurately the final severity of the cataract. Methods and Materials: Ninety-three of the patients who received TBI as a part of their conditioning regimen for BMT between 1982 and 1995 were followed with respect to cataract formation. Included were only patients who had a follow-up period of at least 23 months. TBI was applied in one fraction of 8 Gy or two fractions of 5 or 6 Gy. Cataract-free period was assessed and in 56 patients, who could be followed until stabilization of the cataract had occurred, final severity of the cataract was determined using a classification system. With respect to final severity, two groups were analyzed: subclinical low-grade cataract and high-grade cataract. Cataract-free period and final severity were determined with respect to type of transplantation, TBI dose, and posttransplant variables such as graft versus host disease (GVHD) and steroid treatment. Results: Cataract incidence of the analyzed patients was 89%. Median time to develop a cataract was 58 months for autologous transplanted patients. For allogeneic transplanted patients treated or not treated with steroids, median times were 33 and 46 months, respectively. Final severity was not significantly different for autologous or allogeneic patients. In allogeneic patients, however, final severity was significantly different for patients who had or had not been treated with steroids for GVHD: 93% versus 35% high-grade cataract, respectively. Final severity was also different for patients receiving 1 x 8 or 2 x 5 Gy TBI, from patients receiving 2 x 6 Gy as conditioning therapy: 33% versus 79% high-grade cataract, respectively. The group of patients receiving 2 x 6 Gy comprised, however, more patients with steroid treatment for GVHD. So the high percentage of high-grade cataract in the 2 x 6 Gy group might also

  8. Simulation-based certification for cataract surgery

    DEFF Research Database (Denmark)

    Thomsen, Ann Sofia Skou; Kiilgaard, Jens Folke; Kjaerbo, Hadi

    2015-01-01

    PURPOSE: To evaluate the EyeSi(™) simulator in regard to assessing competence in cataract surgery. The primary objective was to explore all simulator metrics to establish a proficiency-based test with solid evidence. The secondary objective was to evaluate whether the skill assessment was specific...

  9. Genetics Home Reference: congenital bile acid synthesis defect type 1

    Science.gov (United States)

    ... result in softening and weakening of the bones ( rickets ) in some individuals. If left untreated, congenital bile ... Encyclopedia: Cholestasis Health Topic: Liver Diseases Health Topic: Rickets Genetic and Rare Diseases Information Center (1 link) ...

  10. Cataract surgery in patients with ocular pseudoexpholiation.

    Science.gov (United States)

    Petrovic, Mirjana Janicijevic; Vulovic, Tatjana Sarenac; Vulovic, Dejan; Janicijevic, Katarina; Petrovic, Marko; Vujic, Dragan

    2013-01-01

    Retrospective 5-year study based on general and ophthalmic history records, and including 268 eyes (174 patients), aged 50 years and over. Ophthalmological examination involved visual acuity, measuring of intraocular pressure, slit lamp examination and indirect ophthalmoscopy. Type of surgical treatment was tailored for each patient (extra capsular cataract extraction, phaco-emulsiphication). Preoperative slit lamp examination showed phacodonesis in 17.91% (47), iridodonesis in 2.98% (8), pigment dispersion in 6.72% (18), lens subluxation in 4.85% (13) on the total. Extra capsular cataract extraction was performed in 36.94% (99) and phaco-emulsiphication in the others. Analysis of intra operative complications showed: posterior capsular rupture 17.91% (48), zonular dialysis or break 5.97% (16), lens subluxation 1.86% (5), intraocular bleeding 2.98% (8), vitreous loss 13.80% (37). Postoperative complications include: anterior chamber reaction 45.90% (123), intraocular lens tilt 15.67% (42), endothelial decompensation 21.64% (58), subluxation/luxation IOL 3.73% (10), secondary cataract 21.46% (58), pigment dispersion 37.68% (101), increased IOP 13.80% (37), residual lens matter 13.80% (37), hyphema 3.73% (10), posterior synechiae 6.72% (18), iris prolapsus 2.73% (8). Cataract surgery in PES will frequently encounter small pupils, shallow anterior chambers, posterior adhesions, weak zonular support, partial subluxation or complete dislocation of lens. Authors presented the best possible approach on PES and surgical methods for patients with cataract with special accent of possible surgical complications.

  11. Effect of Timing of Initial Cataract Surgery, Compliance to Amblyopia Therapy on Outcomes of Secondary Intraocular Lens Implantation in Chinese Children: A Retrospective Case Series

    Directory of Open Access Journals (Sweden)

    Liuyang Li

    2018-01-01

    Full Text Available Purpose. As a secondary analysis, we reassess the association of initial congenital cataract surgery times, compliance to amblyopia therapy, and visual outcomes for a long-term follow-up in a secondary IOL implantation. Methods. Retrospective review of records of all infants with congenital cataracts who underwent secondary IOL implantation in the Eye and ENT Hospital of Fudan University from January 1, 2001, to December 31, 2007, and the minimum follow-up period was 5 years. Multiple regression analysis was used and the possible confounding factors were also analyzed to assess the effect on visual outcome. Results. A total of 110 patients (male: 59.1% were included. The median (min–max age at cataract extraction and IOL implantation was 7.5 (3.0–15.0 and 35.0 (22.0–184.0 months, respectively, and the average follow-up period was 99.3 ± 23.6 months. The median (min–max BCVA at final follow-up was 0.20 (0.01–1.00. Compliance to amblyopia therapy was none, poor, and good in 21.8%, 24.5%, and 53.6%, respectively. Postoperative BCVA [logMAR, median (min–max 0.70 (0.00–2.00] linearly decreased with increasing cataract extraction time (per month (β=0.04, 95% CI: 0.03–0.06, p<0.0001 in multivariable models with laterality and compliance to amblyopia therapy adjusted. Good compliance to amblyopia therapy was associated with better BCVA (logMAR at last follow-up (β=−0.40, 95% CI = −0.53 to −0.27, p<0.0001 with laterality, opacity type, and extraction time adjusted. Conclusions. For Chinese infants with congenital cataract, an earlier primary congenital cataract surgery at an age of 3 to 15 months is associated with a better visual outcome. Good compliance to amblyopia therapy was also significant to visual outcome.

  12. Congenital orbital teratoma

    OpenAIRE

    Aiyub, Shereen; Chan, Weng Onn; Szetu, John; Sullivan, Laurence J; Pater, John; Cooper, Peter; Selva, Dinesh

    2013-01-01

    We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The p...

  13. Cx43, ZO-1, alpha-catenin and beta-catenin in cataractous lens

    Indian Academy of Sciences (India)

    Specimens of the anterior lens capsule with an attached monolayer of lens epithelial cells (LECs) were obtained from patients (=52) undergoing cataract surgery. Specimens were divided into three groups based on the type of cataract: nuclear cataract, cortical cataract and posterior subcapsular cataract (PSC).

  14. [Incremental cost effectiveness of multifocal cataract surgery].

    Science.gov (United States)

    Pagel, N; Dick, H B; Krummenauer, F

    2007-02-01

    Supplementation of cataract patients with multifocal intraocular lenses involves an additional financial investment when compared to the corresponding monofocal supplementation, which usually is not funded by German health care insurers. In the context of recent resource allocation discussions, however, the cost effectiveness of multifocal cataract surgery could become an important rationale. Therefore an evidence-based estimation of its cost effectiveness was carried out. Three independent meta-analyses were implemented to estimate the gain in uncorrected near visual acuity and best corrected visual acuity (vision lines) as well as the predictability (fraction of patients without need for reading aids) of multifocal supplementation. Study reports published between 1995 and 2004 (English or German language) were screened for appropriate key words. Meta effects in visual gain and predictability were estimated by means and standard deviations of the reported effect measures. Cost data were estimated by German DRG rates and individual lens costs; the cost effectiveness of multifocal cataract surgery was then computed in terms of its marginal cost effectiveness ratio (MCER) for each clinical benefit endpoint; the incremental costs of multifocal versus monofocal cataract surgery were further estimated by means of their respective incremental cost effectiveness ratio (ICER). An independent meta-analysis estimated the complication profiles to be expected after monofocal and multifocal cataract surgery in order to evaluate expectable complication-associated additional costs of both procedures; the marginal and incremental cost effectiveness estimates were adjusted accordingly. A sensitivity analysis comprised cost variations of +/- 10 % and utility variations alongside the meta effect estimate's 95 % confidence intervals. Total direct costs from the health care insurer's perspective were estimated 3363 euro, associated with a visual meta benefit in best corrected visual

  15. Genetics Home Reference: congenital hypothyroidism

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Congenital hypothyroidism Congenital hypothyroidism Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Congenital hypothyroidism is a partial or complete loss of function ...

  16. Mitochondrial disorders in congenital myopathies

    Directory of Open Access Journals (Sweden)

    D. A. Kharlamov

    2014-01-01

    Full Text Available The literature review gives data on the role of mitochondrial disorders in the pathogenesis of congenital myopathies: congenital muscular dystrophies and congenital structural myopathies. It describes changes in congenital muscular dystrophies with type VI collagen, in myodystrophy with giant mitochondria, in congenital central core myopathies, myotubular myopathy, etc. Clinical and experimental findings are presented. Approaches to therapy for energy disorders in congenital myopathies are depicted.

  17. [Penile congenital abnormalities].

    Science.gov (United States)

    Boillot, B; Teklali, Y; Moog, R; Droupy, S

    2013-07-01

    Congenital abnormalities of the penis are usually diagnosed at birth and pose aesthetic and functional problems sometimes requiring surgical management. A literature review was conducted on Medline considering the articles listed until January 2012. Hypospadias is the most common malformation (1 in 250 boys. Familial forms: 7%). The causes remain hypothetical but the doubling of the incidence in 30 years could be linked to fetal exposure to endocrine disruptors "estrogen-like" used in the food industry in particular. Surgical treatment is usually intended to improve the aesthetic appearance but sometimes, in case of significant curvature or posterior meatus, necessary for normal sexual life and fertility. Other malformations (epispades, buried penis, transpositions, twists and preputial abnormalities) as well as management for functional or aesthetic consequences of these malformations in adulthood require complex surgical care in a specialized environment. The improvement of surgical techniques and pediatric anesthesia allows an early and effective specialized surgical approach of penile malformations. Management of sequelae in adulthood must be discussed and requires experience of surgical techniques on pediatric and adult penis. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  18. Influence factors of visual quality after phacoemulsification for cataract

    Directory of Open Access Journals (Sweden)

    Zhen-Lin Lin

    2017-12-01

    Full Text Available Cataract refers to the degenerative changes in lens quality caused by various causes of reduced transparency or color change. Surgical treatment is the main treatment modality at present. Among them, phacoemulsification has become the main surgical treatment for cataract because of its advantages such as short operation time, small incision and quicker healing. Today, cataract surgery has gradually shift to refractive surgery, and is no longer simply as cataract surgery. But after cataract phacoemulsification, the symptoms and visual quality are different. The main causes include refractive error, postoperative dry eyes and postoperative corneal astigmatism. This article reviews the factors that influence the visual quality of cataract phacoemulsification and its future trends.

  19. Risk of Retinal Detachment After Pediatric Cataract Surgery

    DEFF Research Database (Denmark)

    Haargaard, Birgitte; Andersen, Elisabeth W; Oudin, Anna

    2014-01-01

    PURPOSE: To determine the long-term risk of retinal detachment following pediatric cataract surgery and to identify risk factors for retinal detachment. METHODS: We included all children (aged 0 to 17 years) who during the time period of 1977 to 2005 underwent pediatric cataract surgery in Denmark...... was based on medical chart review. RESULTS: Among 1043 eyes of 656 children undergoing surgery for pediatric cataract, 25 eyes (23 children) developed retinal detachment at a median time of 9.1 years after surgery. The overall 20-year risk of retinal detachment was 7% (95% confidence interval [CI]: 3...... (16% [95% CI: 6%-24%]). CONCLUSIONS: The estimated overall risk of retinal detachment 20 years after pediatric cataract surgery was 7%, but only 3% for isolated cataract. Particularly high risks of retinal detachment after cataract surgery were associated with mental retardation and having other...

  20. The Effect of Cataract Surgery on Circadian Photoentrainment

    DEFF Research Database (Denmark)

    Brøndsted, Adam Elias; Sander, Birgit; Haargaard, Birgitte

    2015-01-01

    of cataract surgery on circadian photoentrainment and to determine any difference between blue-blocking and neutral intraocular lenses (IOLs). DESIGN: The study was a single-center, investigator-driven, double-masked, block-randomized clinical trial. PARTICIPANTS: One eye in 76 patients with bilateral age......PURPOSE: Cataract decreases blue light transmission. Because of the selective blue light sensitivity of the retinal ganglion cells governing circadian photoentrainment, cataract may interfere with normal sleep-wake regulation and cause sleep disturbances. The purpose was to investigate the effect......-related cataract eligible for cataract surgery was included. METHODS: Intervention was cataract surgery by phacoemulsification. Patients were randomized to receive a blue-blocking or neutral IOL. MAIN OUTCOME MEASURES: Primary outcome was activation of intrinsic photosensitive ganglion cells using post...

  1. Surgical simulators in cataract surgery training.

    Science.gov (United States)

    Sikder, Shameema; Tuwairqi, Khaled; Al-Kahtani, Eman; Myers, William G; Banerjee, Pat

    2014-02-01

    Virtual simulators have been widely implemented in medical and surgical training, including ophthalmology. The increasing number of published articles in this field mandates a review of the available results to assess current technology and explore future opportunities. A PubMed search was conducted and a total of 10 articles were reviewed. Virtual simulators have shown construct validity in many modules, successfully differentiating user experience levels during simulated phacoemulsification surgery. Simulators have also shown improvements in wet-lab performance. The implementation of simulators in the residency training has been associated with a decrease in cataract surgery complication rates. Virtual reality simulators are an effective tool in measuring performance and differentiating trainee skill level. Additionally, they may be useful in improving surgical skill and patient outcomes in cataract surgery. Future opportunities rely on taking advantage of technical improvements in simulators for education and research.

  2. Congenital heat disease

    International Nuclear Information System (INIS)

    Higgins, C.B.; Silverman, N.H.; Kersting-Somerhoff, B.A.

    1990-01-01

    The book covers the tomographic anatomy of the normal and congenitally malformed heart and tomographic imaging of the normal heat. It then compares echocardiographic evaluation and the use of MR imaging in the diagnosis and evaluation of individual congenital cardiac malformations

  3. Eliminating the barriers to uptake of cataract surgery in a resource ...

    African Journals Online (AJOL)

    2014-11-03

    Nov 3, 2014 ... Direct surgical fee reduction alone caused only a modest increase in ... for reversing cataract blindness. ... of surgical fee reduction on cataract surgical uptake in a .... deploy the necessary resources and logistics for cataract.

  4. Cataract and its surgery in Fiji.

    Science.gov (United States)

    Brian, Garry; Ramke, Jacqueline; Szetu, John; Qoqonokana, Mundi Qalo

    2011-07-01

    To characterize cataract and its surgery among adults aged ≥40 years in Fiji. Population-based cross-sectional survey using multistage cluster random sampling. 1381 (= 73.0% participation); eight provinces on Viti Levu. Interview-based questionnaire; visual acuity measured; autorefraction; dilated ocular examination. Prevalence; predictors; surgical outcomes. Being Indian (P = 0.001), elderly (P Fiji population aged ≥40 years, prevalence of cataract-induced low vision and blindness were each 1.7% (95% confidence interval [CI] 1.0-2.4%). At least one eye of 4.6% and both of 1.8% participants had surgery (86.4% extracapsular). Gender (P = 0.213), age (P = 0.472) and rural/urban domicile (P = 0.895) were not predictors of surgery among those who required it in at least one eye. After intraocular lens surgery: 50.7% had pupillary posterior capsular opacification; mean spherical equivalent was -1.37 ± 1.95D (range, -6.38 to +2.25D); mean cylindrical error was 2.31 ± 1.75D (range, 0.0 to 8.75D); ≥N8 for 39.5%; ≥6/18 for 56.6%; Fiji population aged ≥40 years, Cataract Surgical Coverage (Person) was 47.5% (95%CI 29.2-65.8%) at Fiji cataract services and outcomes compare favourably with those of neighbouring Papua New Guinea and Timor Leste. © 2011 The Authors. Clinical and Experimental Ophthalmology © 2011 Royal Australian and New Zealand College of Ophthalmologists.

  5. Queen Victoria, her physicians, and her cataracts.

    Science.gov (United States)

    Ravin, J G

    1994-01-01

    Decreasing vision due to cataracts became a significant problem for Queen Victoria toward the end of the 19th century. Her personal physician, Sir James Reid, obtained consultations with two eminent British ophthalmologists, George Lawson and Edward Nettleship. The Queen was not satisfied, and requested an opinion from the German professor Hermann Pagenstecher. All the doctors agreed on the diagnosis, but the Queen never underwent surgery.

  6. Cataract influence on iris recognition performance

    Science.gov (United States)

    Trokielewicz, Mateusz; Czajka, Adam; Maciejewicz, Piotr

    2014-11-01

    This paper presents the experimental study revealing weaker performance of the automatic iris recognition methods for cataract-affected eyes when compared to healthy eyes. There is little research on the topic, mostly incorporating scarce databases that are often deficient in images representing more than one illness. We built our own database, acquiring 1288 eye images of 37 patients of the Medical University of Warsaw. Those images represent several common ocular diseases, such as cataract, along with less ordinary conditions, such as iris pattern alterations derived from illness or eye trauma. Images were captured in near-infrared light (used in biometrics) and for selected cases also in visible light (used in ophthalmological diagnosis). Since cataract is a disorder that is most populated by samples in the database, in this paper we focus solely on this illness. To assess the extent of the performance deterioration we use three iris recognition methodologies (commercial and academic solutions) to calculate genuine match scores for healthy eyes and those influenced by cataract. Results show a significant degradation in iris recognition reliability manifesting by worsening the genuine scores in all three matchers used in this study (12% of genuine score increase for an academic matcher, up to 175% of genuine score increase obtained for an example commercial matcher). This increase in genuine scores affected the final false non-match rate in two matchers. To our best knowledge this is the only study of such kind that employs more than one iris matcher, and analyzes the iris image segmentation as a potential source of decreased reliability

  7. Blindness and cataract surgical services in Atsinanana region, Madagascar.

    Science.gov (United States)

    Randrianaivo, Jean-Baptiste; Anholt, R Michele; Tendrisoa, Diarimirindra Lazaharivony; Margiano, Nestor Jean; Courtright, Paul; Lewallen, Susan

    2014-01-01

    To assess the prevalence and causes of avoidable blindness in Atsinanana Region, Madagascar, with the Rapid Assessment of Avoidable Blindness (RAAB) survey. We analyzed the hospital records to supplement the findings for public health care planning. Only villages within a two-hour walk from a road, about half of the population of Atsinanana was included. Seventy-two villages were selected by population-proportional-to-size sampling. In each village, compact segment sampling was used to select 50 people over age 50 for eye examination using standard RAAB methods. Records at the two hospitals providing cataract surgery in the region were analyzed for information on patients who underwent cataract surgery in 2010. Cataract incidence rate and target cataract surgery rate (CSR) was modeled from age-specific prevalence of cataract. The participation rate was 87% and the sample prevalence of blindness was 1.96%. Cataract was responsible for 64% and 85.7% of blindness and severe visual impairment, respectively. Visual impairment was due to cataract (69.4%) and refractive error (14.1%). There was a strong positive correlation between cataract surgical rate by district and the proportion of people living within 2 hours of a road. There were marked differences in the profiles of the cataract patients at the two facilities. The estimated incidence of cataract at the 6/18 level was 2.4 eyes per 100 people over age 50 per year. Although the survey included only people with reasonable access, the main cause of visual impairment was still cataract. The incidence of cataract is such that it ought to be possible to eliminate it as a cause of visual impairment, but changes in service delivery at hospitals and strategies to improve access will be necessary for this change.

  8. Editorial: Improving cataract outcomes through good postoperative care

    Directory of Open Access Journals (Sweden)

    Nick Astbury

    2016-10-01

    Full Text Available Cataract surgery is one of the most successful and frequently performed operations worldwide, and yet cataract remains the commonest cause of global blindness. This is in part due to the shortage and uneven distribution of trained personnel in some countries. More worryingly, a high rate of cataract blindness also reflects poor visual outcomes after surgery, as has been documented in many RAAB (rapid assessment of avoidable blindness studies.

  9. Affordability of cataract surgery using the Big Mac prices

    OpenAIRE

    Van C. Lansingh; Marissa J. Carter; Kristen A. Eckert; Kevin L. Winthrop; João M. Furtado; Serge Resnikoff

    2015-01-01

    Purpose: One barrier to cataract surgery is its high price in some countries. This study aims to understand to what extent the price of cataract surgery is over- or undervalued and whether it varies in relation to GDP using The Economist newspaper Big Mac Index (BMcI) methodology, which measures the purchasing power parity between different currencies. Methods: Peer-reviewed articles containing information on cataract surgery prices were searched from 1993 to June 2012 in databases. Ophtha...

  10. Elevated frequency of cataracts in birds from chernobyl.

    Directory of Open Access Journals (Sweden)

    Timothy Alexander Mousseau

    Full Text Available BACKGROUND: Radiation cataracts develop as a consequence of the effects of ionizing radiation on the development of the lens of the eye with an opaque lens reducing or eliminating the ability to see. Therefore, we would expect cataracts to be associated with reduced fitness in free-living animals. METHODOLOGY/PRINCIPAL FINDINGS: We investigated the incidence of lens opacities typical of cataracts in more than 1100 free-living birds in the Chernobyl region in relation to background radiation. The incidence of cataracts increased with level of background radiation both in analyses based on a dichotomous score and in analyses of continuous scores of intensity of cataracts. The odds ratio per unit change in the regressor was 0.722 (95% CI 0.648, 0.804, which was less than odds ratios from investigations of radiation cataracts in humans. The relatively small odds ratio may be due to increased mortality in birds with cataracts. We found a stronger negative relationship between bird abundance and background radiation when the frequency of cataracts was higher, but also a direct effect of radiation on abundance, suggesting that radiation indirectly affects abundance negatively through an increase in the frequency of cataracts in bird populations, but also through direct effects of radiation on other diseases, food abundance and interactions with other species. There was no increase in incidence of cataracts with increasing age, suggesting that yearlings and older individuals were similarly affected as is typical of radiation cataract. CONCLUSIONS/SIGNIFICANCE: These findings suggest that cataracts are an under-estimated cause of morbidity in free-living birds and, by inference, other vertebrates in areas contaminated with radioactive materials.

  11. Elevated Frequency of Cataracts in Birds from Chernobyl

    Science.gov (United States)

    Mousseau, Timothy Alexander; Møller, Anders Pape

    2013-01-01

    Background Radiation cataracts develop as a consequence of the effects of ionizing radiation on the development of the lens of the eye with an opaque lens reducing or eliminating the ability to see. Therefore, we would expect cataracts to be associated with reduced fitness in free-living animals. Methodology/Principal Findings We investigated the incidence of lens opacities typical of cataracts in more than 1100 free-living birds in the Chernobyl region in relation to background radiation. The incidence of cataracts increased with level of background radiation both in analyses based on a dichotomous score and in analyses of continuous scores of intensity of cataracts. The odds ratio per unit change in the regressor was 0.722 (95% CI 0.648, 0.804), which was less than odds ratios from investigations of radiation cataracts in humans. The relatively small odds ratio may be due to increased mortality in birds with cataracts. We found a stronger negative relationship between bird abundance and background radiation when the frequency of cataracts was higher, but also a direct effect of radiation on abundance, suggesting that radiation indirectly affects abundance negatively through an increase in the frequency of cataracts in bird populations, but also through direct effects of radiation on other diseases, food abundance and interactions with other species. There was no increase in incidence of cataracts with increasing age, suggesting that yearlings and older individuals were similarly affected as is typical of radiation cataract. Conclusions/Significance These findings suggest that cataracts are an under-estimated cause of morbidity in free-living birds and, by inference, other vertebrates in areas contaminated with radioactive materials. PMID:23935827

  12. Serum 25-hydroxyvitamin D and Age-Related Cataract.

    Science.gov (United States)

    Park, Sangshin; Choi, Nam-Kyong

    2017-10-01

    Cataract and insufficient vitamin D intake are both increasing worldwide concerns, yet little is known about the relationship between serum 25-hydroxyvitamin D (25(OH)D) levels and age-related cataract. We performed this study to determine the association between serum 25(OH)D levels and age-related cataract in adults. Study participants comprised 16,086 adults aged 40 years or older who had never been diagnosed with or undergone surgery for cataract using Korean National Health and Nutrition Examination Survey data from 2008 to 2012. Participants were assessed to have cataract when diagnosed with cortical, nuclear, anterior subcapsular, posterior subcapsular, or mixed cataract. Odds ratios (ORs) and 95% confidence intervals (CIs) were used to evaluate the magnitude and significance of the association between serum 25(OH)D levels and cataract in multivariable logistic regression models. The OR for nuclear cataract with the highest quintile of serum 25(OH)D levels was 0.86 (95% CI 0.75-0.99) compared to the lowest quintile. A linear trend across quintiles was significant. Natural log-transformed serum 25(OH)D levels were also significantly associated with nuclear cataract (OR 0.84, 95% CI 0.75-0.95). The opulation-attributable fraction of nuclear cataract due to serum 25(OH)D insufficiency (D levels were inversely associated with the risk of nuclear cataract. Prospective studies investigating the effects of serum 25(OH)D levels on the development of nuclear cataract are needed to confirm our findings.

  13. Combined surgery versus cataract surgery alone for eyes with cataract and glaucoma.

    Science.gov (United States)

    Zhang, Mingjuan Lisa; Hirunyachote, Phenpan; Jampel, Henry

    2015-07-14

    Cataract and glaucoma are leading causes of blindness worldwide, and their co-existence is common in elderly people. Glaucoma surgery can accelerate cataract progression, and performing both surgeries may increase the rate of postoperative complications and compromise the success of either surgery. However, cataract surgery may independently lower intraocular pressure (IOP), which may allow for greater IOP control among patients with co-existing cataract and glaucoma. The decision between undergoing combined glaucoma and cataract surgery versus cataract surgery alone is complex. Therefore, it is important to compare the effectiveness of these two interventions to aid clinicians and patients in choosing the better treatment approach. To assess the relative effectiveness and safety of combined surgery versus cataract surgery (phacoemulsification) alone for co-existing cataract and glaucoma. The secondary objectives include cost analyses for different surgical techniques for co-existing cataract and glaucoma. We searched CENTRAL (which contains the Cochrane Eyes and Vision Group Trials Register) (2014, Issue 10), Ovid MEDLINE, Ovid MEDLINE In-Process and Other Non-Indexed Citations, Ovid MEDLINE Daily, Ovid OLDMEDLINE (January 1946 to October 2014), EMBASE (January 1980 to October 2014), PubMed (January 1948 to October 2014), Latin American and Caribbean Health Sciences Literature Database (LILACS) (January 1982 to October 2014), the metaRegister of Controlled Trials (mRCT) (www.controlled-trials.com), ClinicalTrials.gov (www.clinicaltrials.gov), and the World Health Organization (WHO) International Clinical Trials Registry Platform (ICTRP) (www.who.int/ictrp/search/en). We did not use any date or language restrictions in the electronic searches for trials. We last searched the electronic databases on 3 October 2014.We checked the reference lists of the included trials to identify further relevant trials. We used the Science Citation Index to search for references to

  14. Key aspects congenital infection

    Directory of Open Access Journals (Sweden)

    Yu. V. Lobzin

    2014-01-01

    Full Text Available The key questions to solve the problem of congenital infection in the Russian Federation are: using in national practice over world accepted terminology adapted to the recommendations of the World Health Organization; representation of the modern concepts of an infectious process in the classification of congenital infections; scientific development and introducing in clinical practice the «standard case definitions», applied to different congenital infections; optimization of protocols and clinical guidelines for diagnosis, treatment and prevention of congenital infections; improvement a knowledge in the infectious disease for all  pecialists involved in the risk assessment of congenital infections, manage pregnancy and children. Based on our experience and analysis of publications, the authors suggest possible solutions.

  15. [Computer-assisted phacoemulsification for hard cataracts].

    Science.gov (United States)

    Zemba, M; Papadatu, Adriana-Camelia; Sîrbu, Laura-Nicoleta; Avram, Corina

    2012-01-01

    to evaluate the efficiency of new torsional phacoemulsification software (Ozil IP system) in hard nucleus cataract extraction. 45 eyes with hard senile cataract (degree III and IV) underwent phacoemulsification performed by the same surgeon, using the same technique (stop and chop). Infiniti (Alcon) platform was used, with Ozil IP software and Kelman phaco tip miniflared, 45 degrees. The nucleus was split into two and after that the first half was phacoemulsificated with IP-on (group 1) and the second half with IP-off (group 2). For every group we measured: cumulative dissipated energy (CDE), numbers of tip closure that needed manual desobstruction the amount of BSS used. The mean CDE was the same in group 1 and in group 2 (between 6.2 and 14.9). The incidence of occlusion that needed manual desobstruction was lower in group 1 (5 times) than in group 2 (13 times). Group 2 used more BSS compared to group 1. The new torsional software (IP system) significantly decreased occlusion time and balanced salt solution use over standard torsional software, particularly with denser cataracts.

  16. Methylphenidate (Ritalin-associated Cataract and Glaucoma

    Directory of Open Access Journals (Sweden)

    Chao-Kung Lu

    2006-12-01

    Full Text Available Methylphenidate hydrochloride (Ritalin is the drug of choice for attention deficit hyperactivity disorder (ADHD. However, an association of Ritalin with glaucoma has been reported. We report a case of Ritalin-associated cataract and glaucoma. A 10-year-old boy was diagnosed with ADHD and had received methylphenidate hydrochloride, 60 mg/day for 2 years. He presented with blurred vision. Best-corrected visual acuity was 6/60 in both eyes. Ocular examinations revealed intraocular pressure (IOP of 30 mmHg under medication, dense posterior subcapsular opacity of lens, pale disc with advanced cupping, and marked constriction of visual field. Despite maximal anti-glaucomatous medication, IOP still could not be controlled. The patient then received combined cataract and glaucoma surgery. Visual acuity improved and IOP was within normal limits in both eyes postoperatively. Large dose of methylphenidate may cause cataract and glaucoma. The mechanism remains unclear. Doctors should be aware of the possible ocular side effects of methylphenidate.

  17. Principles and paradigms of pediatric cataract management

    Directory of Open Access Journals (Sweden)

    Basti Surendra

    1995-01-01

    Full Text Available Propensity for increased postoperative inflammation and capsular opacification, a refractive state that is constantly in a state of flux due to growth of the eye, difficulty in documenting anatomic and refractive changes due to poor compliance, and a tendency to develop amblyopia, makes management of cataract in the child different from that in the adult. The recent past has unraveled several caveats of pediatric cataract management - the importance of atraumatic surgery and complete removal of lens matter, benefits of in-the-bag intraocular lens(IOL implantation, role of titrating IOL power to counter refractive changes due to growth of the eye, prudery of continuously following these eyes for early detection of aphakic glaucoma and benefits of some surgical innovations. Although these promise to significantly improve our management of pediatric cataract, their long-term benefits are yet to be determined. We will also have to harness newer techniques, especially in the areas of wound construction and capsule management, and will have to develop effective strategies for the refractive management of infantile aphakia.

  18. Measuring aniseikonia using scattering filters to simulate cataract

    Science.gov (United States)

    Wilson, Jason

    2011-12-01

    The relationship between anisometropia and aniseikonia (ANK) is not well understood. Ametropic cataract patients provide a unique opportunity to study this relationship after undergoing emmetropizing lens extraction. Because light scatter may affect ANK measurement in cataract patients, its effect should also be evaluated. The Basic Aniseikonia Test (BAT) was evaluated using afocal size lenses to produce specific changes in retinal height. Several light scattering devices were then evaluated to determine which produced effects most similar to cataract. Contrast sensitivity and visual acuity (VA) losses were measured with each device and compared to those reported in cataract. After determining the most appropriate light scattering device, twenty healthy patients with normal visual function were recruited to perform the BAT using the filters to simulate cataract. Cataract patients were recruited from Vision America and the University of Alabama at Birmingham School of Optometry. Patients between 20 and 75 years of age with at least 20/80 VA in each eye, ≥ 2D ametropia, and normal binocular function were recruited. Stereopsis and ANK were tested and each patient completed a symptom questionnaire. ANK measurements using afocal size lenses indicated that the BAT underestimates ANK, although the effect was minimal for vertical targets and darkened surroundings, as previously reported. Based on VA and contrast sensitivity loss, Vistech scattering filters produced changes most similar to cataract. Results of the BAT using Vistech filters demonstrated that a moderate cataract but not a mild cataract may affect the ANK measurement. ANK measurements on cataract patients indicated that those with ≥ 2 D ametropia in each eye may suffer from induced ANK after the first cataract extraction. With upcoming healthcare reform, unilateral cataract extraction may be covered, but not necessarily bilateral, depending on patient VA in each eye. However, a questionnaire about symptoms

  19. Congenital toxoplasmosis presenting with fetal atrial flutter after maternal ingestion of infected moose meat.

    Science.gov (United States)

    Colosimo, Sarah M; Montoya, Jose G; Westley, Benjamin P; Jacob, Jack; Isada, Nelson B

    2013-09-01

    Consumption of undercooked game meat during pregnancy is considered a risk factor for congenital toxoplasmosis, but cases definitively linking ingestion of infected meat to clinical disease are lacking. We report a confirmed case of congenital toxoplasmosis identified because of atrial flutter in the fetus and linked to maternal consumption of Toxoplasma gondii PCR-positive moose meat.

  20. Comparison of Pre-operative Central Corneal Thickness in Pediatric Cataract Cases versus Normal

    International Nuclear Information System (INIS)

    Khan, S.; Ali, M.; Zaheer, N.

    2014-01-01

    Objective: To compare the pre-operative central corneal thickness (CCT) in paediatric cataract patients with reference to normal control group. Study Design: A case control study. Place and Duration of Study: Paediatric Ophthalmology Clinic of Al-Shifa Trust Eye Hospital (ASTEH), Rawalpindi, from November 2009 to May 2010. Methodology: The study included 116 subjects with equal number of cases and controls. Demographic profile of all the subjects was noted followed by history and detailed ophthalmic examination. CCT was measured using an ultrasonic pachymeter (model Pac Scan 300). The mean of three measurements from the central cornea were recorded in microns. Results were analyzed using SPSS version 17.0. Results: Mean CCT values of the cases was 566.83 +- 37.646 microns while the control group had a mean CCT of 535.81 +- 24.466 microns. Difference between the CCT values of the two groups was highly significant (p < 0.001). Conclusion: Eyes with congenital cataracts have greater CCT values as compared to normal paediatric population. This factor must be kept in mind while interpreting intra-ocular pressure in such patients. (author)

  1. Glaucoma-related adverse events in the first five years after unilateral cataract removal in the Infant Aphakia Treatment Study

    Science.gov (United States)

    Freedman, Sharon F.; Lynn, Michael J.; Beck, Allen D.; Bothun, Erick D.; Orge, Faruk H.; Lambert, Scott R.

    2015-01-01

    Importance Glaucoma-related adverse events constitute major sight-threatening complications of cataract removal in infancy, yet their relationship to aphakia versus primary intraocular lens (IOL) implantation remains unsettled. Objective To identify and characterize cases of glaucoma and glaucoma-related adverse events (glaucoma+glaucoma suspect) among children in the Infant Aphakia Treatment Study (IATS) by the age of five years. Design, Setting, and Participants A multicenter randomized controlled trial of 114 infants with unilateral congenital cataract who were between age 1–6 months at surgery. Interventions Participants were randomized at cataract surgery to either primary IOL, or no IOL implantation (contact lens [CL]). Standardized definitions of glaucoma and glaucoma suspect were created for IATS and applied for surveillance and diagnosis. Main Outcome Measures Development of glaucoma and glaucoma+glaucoma suspect in operated eyes up to age five years, plus intraocular pressure, visual acuity, and axial length at age five years. Results Product limit estimates of the risk of glaucoma and glaucoma+glaucoma suspect at 4.8 years after surgery were 17% (95%CI=11%–25%) and 31% (95%CI=24%–41%), respectively. The CL and IOL groups were not significantly different for either outcome: glaucoma (hazard ratio(HR)=0.8[95%CI=0.3–2.0],p=0.62); glaucoma+glaucoma suspect: (HR=1.3[95%CI=0.6–2.5],p=0.58). Younger (versus older) age at surgery conferred increased risk of glaucoma (26% versus 9%, respectively at 4.8 years after surgery (HR=3.2[95%CI=1.2–8.3]), and smaller (versus larger) corneal diameter showed increased risk for glaucoma+glaucoma suspect (HR=2.5[95%CI=1.3–5.0]). Age and corneal diameter were significantly positively correlated. Glaucoma was predominantly open angle (19/20 cases, 95%), most eyes received medication (19/20, 95%), and 8/20 (40%) eyes had surgery. Conclusions and Relevance These results suggest that glaucoma-related adverse events

  2. The Relationship of age, attitude, knowladge, cost to cataract surgery

    Directory of Open Access Journals (Sweden)

    Aminatul Fitria

    2017-02-01

    Full Text Available Cataract is the leading cause of 51% blindness case in the world. Cataract can only be cured trough surgery, but most people with cataract in Indonesia is not in undergoing surgery due to several factors. The increasing number of cataract victim whose not undergoing any treatment to cure them will resulting in increasing number of blindness case, so blindness cause by cataracts can be a public health problem. This research was conducted to determine the relationship of age, attitudes, knowledge and the cost of the action to perform cataract surgery. This research was an observational analytic study with cross sectional design. The samples were cataract patients in Undaan Eye Hospital Surabaya who were randomly selected using a simple random sampling based on medical records of 60 people. Data collection was done by taking secondary data and interviews to patients. Those variables was analyzed with chi square or Fisher’s exact with significancy level at 95%. The result showed that there were correlation between knowledge (p = 0.017, operating costs (p = 0.001 and attitude (0.000 while age was not related (p = 1.000, the actions to perform cataract surgery. The conclusion from this research was the attitude, knowledge and operating costs related to the actions to perform cataract surgery, while age was not related to the actions to perform cataract surgery. It is recommended to give through leaflets or other media in the lobby for improving patient education, counseling to the patient family, the doctor’s advice to convince patient for surgery. Keywords: practice, surgery, cataract, attitudes, costs

  3. Congenital symmastia revisited

    DEFF Research Database (Denmark)

    Sillesen, Nanna H; Hölmich, Lisbeth R; Siersen, Hans Erik

    2012-01-01

    Symmastia is defined as medial confluence of the breast. The term 'symmastia' is modified from Greek (syn meaning 'together', and mastos meaning 'breast') and was first presented by Spence et al. in 1983. Two forms of symmastia exist: an iatrogenic and a congenital version. Congenital symmastia...... is a rare condition in which web-like soft tissue traverses the sternum to connect the breasts medially. The literature on congenital symmastia is limited, few cases have been published, and knowledge about ideal treatment is still insufficient....

  4. Congenital anophthalmia and microphthalmia: epidemiology and orbitofacial rehabilitation

    Directory of Open Access Journals (Sweden)

    Llorente-González S

    2011-12-01

    Full Text Available Sara Llorente-González1, J Peralta-Calvo2, JM Abelairas-Gómez21Ophthalmology Service of Hospital de Torrejón, Madrid, Spain; 2Ophthalmology Service of Hospital Universitario La Paz, Madrid, SpainObjective: To describe the prevalence of congenital anophthalmia and microphthalmia in Hospital Universitario La Paz, and to identify associated risk factors and evaluate cosmetic results in treated and nontreated patients.Methods: A retrospective, descriptive, cross-sectional study of patients treated with orbital expanding techniques (cases and nontreated patients (controls was carried out as a comparative case series study. A total of 36 patients with unilateral or bilateral anophthalmia or microphthalmia as main diagnosis were included; 52 epidemiological and management variables for each patient were analyzed. The study evaluated orbital growth and facial symmetry.Results: The overall cosmetic result in the study’s group of patients was satisfactory: 66.7% showed good or very good orbital growth, and 75% showed good or very good facial symmetry. Controls had better cosmetic outcome but showed more cataracts (P = 0.05, inferior colobomas (P = 0.026, and family history (P = 0.056 than the cases. Controls also showed significantly better orbital growth (P = 0.042 and facial symmetry (P = 0.014 than the cases.Conclusion: This study suggests that the mere presence of a globe (controls still provides better orbitofacial development than the artificial stimulation (cases currently available for patients with congenital anophthalmia and microphthalmia, who receive internal and external orbital rehabilitation.Keywords: cosmetic outcome, orbital rehabilitation, ocular malformation, congenital cataract, persistent fetal vasculature

  5. Small-incision cataract extraction combined trabeculectomy for primary angle-closure glaucoma with cataract

    Directory of Open Access Journals (Sweden)

    Yu-Feng Wu

    2014-09-01

    Full Text Available AIM: To observe the curative effect of treating small-incision cataract extraction by intraocular lens implantation combined with trabeculectomy for primary angle-closure glaucoma with cataract. METHODS: Totally 44 cases(52 eyesof primary angle-closure glaucoma combined with cataract were selected to undergo the combined surgery, in order to observe the patients' pre- and postoperative eyesights, intraocular pressures and the postoperative complications.RESULTS: The postoperative eyesight was improved significantly as compared with the preoperative eyesight. The intraocular pressure was declined dramatically. The result was of statistical significance(P0.05. All the 52 cases' surgeries were performed by the same surgeon. The surgeries were processed smoothly, with 6 postoperative eyes of anterior chamber inflammation cell response, 3 eyes of anterior chamber fibrinoid exudate, 2 eyes of shallow anterior chamber through mydriasis and treatment with glucocorticoids and non-steroidal eyedrops before absorption, and no complications like malignant glaucoma, cyclodialysis, etc. were reported through mydriasis and pressure bandaging before recovery.CONCLUSION: Treating the primary angle-closure glaucoma combined with cataract through the combined surgery has high reliability and desirable curative effect. The surgical method is simple to learn and applicable for promotion on the basic level.

  6. Promoter demethylation of Keap1 gene in human diabetic cataractous lenses

    Energy Technology Data Exchange (ETDEWEB)

    Palsamy, Periyasamy [Department of Ophthalmology and Visual Sciences, University of Nebraska Medical Center, Omaha, NE (United States); Ayaki, Masahiko [Shizuoka National Hospital, Saitama (Japan); Elanchezhian, Rajan [Department of Ophthalmology and Visual Sciences, University of Nebraska Medical Center, Omaha, NE (United States); Shinohara, Toshimichi, E-mail: tshinohara@unmc.edu [Department of Ophthalmology and Visual Sciences, University of Nebraska Medical Center, Omaha, NE (United States)

    2012-07-06

    then increases the targeting of Nrf2 for proteosomal degradation. Decreased Nrf2 activity represses the transcription of many antioxidant enzyme genes and alters the redox-balance towards lens oxidation. Thus, the failure of antioxidant protection due to demethylation of the CpG islands in the Keap1 promoter is linked to the diabetic cataracts and possibly ARCs.

  7. Promoter demethylation of Keap1 gene in human diabetic cataractous lenses

    International Nuclear Information System (INIS)

    Palsamy, Periyasamy; Ayaki, Masahiko; Elanchezhian, Rajan; Shinohara, Toshimichi

    2012-01-01

    transcription of many antioxidant enzyme genes and alters the redox-balance towards lens oxidation. Thus, the failure of antioxidant protection due to demethylation of the CpG islands in the Keap1 promoter is linked to the diabetic cataracts and possibly ARCs.

  8. A COMPARATIVE STUDY OF THE AMOUNT OF ASTIGMATISM FOLLOWING CONVENTIONAL EXTRACAPSULAR CATARACT EXTRACTION AND MANUAL SMALL INCISION CATARACT SURGERY

    Directory of Open Access Journals (Sweden)

    Rajkumari Bigyabati

    2016-06-01

    Full Text Available BACKGROUND Cataract is the principal cause of avoidable blindness in India and throughout the world. Surgical removal of the cataractous lens remains the only effective treatment for management of cataract blindness. The success of cataract surgery is determined by best and earliest visual recovery. But the occurrence of postoperative astigmatism has become a major hurdle in achieving this goal. AIMS The study was designed to compare the amount of astigmatism following conventional extracapsular cataract extraction (ECCE and manual small incision cataract surgery (SICS. MATERIALS AND METHODS The study was carried out in 100 eyes of 75 patients aged between 50 and 80 years admitted for cataract surgery. Out of these, 50 eyes were operated by conventional extracapsular cataract extraction and 50 eyes by manual small incision cataract surgery. The patients were followed up at 2 nd , 4 th , 6 th and 8 th weeks. At each follow-up visual acuity, refraction and acceptance and keratometry were recorded and the findings analysed for astigmatism. RESULTS In the current study, the mean (SD astigmatism developed at the end of the 2 nd , 4 th and 6 th of follow-up was significantly lower in the SICS group as compared to the ECCE group (P<0.000. At the end of 8 weeks of follow-up, the mean (SD astigmatism of the SICS group was 0.64±0.56 D as compared to the mean (SD of the ECCE group of 1.39±86 D and the difference was found to be significant (p<0.014. CONCLUSION The current study concludes that manual small incision cataract surgery is a better technique to control postoperative astigmatism than conventional extracapsular cataract extraction.

  9. Long-Term Results of Cataract Surgery in Patients with Unilateral Childhood Cataract

    Directory of Open Access Journals (Sweden)

    Suzan Güven Yılmaz

    2012-03-01

    Full Text Available Pur po se: To evaluate the long-term visual outcome and to determine the surgical complications after cataract surgery in patients with unilateral childhood cataract. Ma te ri al and Met hod: We retrospectively reviewed the records of 18 cases with unilateral childhood cataract who had undergone cataract surgery before the age of seven. Primary intraocular lens (IOL implantation was made in children who were older than 1 year of age. Secondary IOL implantation was made after 18 months in children who were operated before the age of 1 year and were left aphakic. Occlusion therapy was performed to all children for amblyopia postoperatively. Visual acuity and complications were evaluated in a mean follow-up period of 4.8 years. Re sults: The mean age of the 18 patients (9 female/9 male at the time of surgery was 43.6±33.7(1-84 months. Eleven (61% patients had cataract surgery after 1 year of age. Secondary IOL implantation was performed at mean 28th month in 4 of 7 aphakic patients (57% who had cataract surgery before one year of age. In 3 (43% aphakic patients, secondary IOL implantation could not be performed because of ocular pathologies such as microophthalmia. Final visual acuity was 0.5 or better in 7 eyes (39%, between 0.1 and 0.5 in 6 eyes (33%, and worse than 0.1 - in 5 eyes (28%. Of 5 eyes that had visual acuity worse than 0.1, 4 (80% had at least one additional ocular pathology such as microphthalmia, strabismus and nystagmus. Nd:YAG laser posterior capsulotomy was performed at mean 8th month in 7 of 8 (87% children whose posterior capsules were left intact at surgery. Dis cus si on: Favorable visual outcomes can be achieved with surgical intervention and complementary amblyopia treatment in children with unilateral cataract. Preoperative microphthalmia, nystagmus and strabismus are not entirely an obstacle to visual development, but they are important factors leading to low visual acuity. (Turk J Ophthalmol 2012; 42: 103-10

  10. Visual outcome after cataract surgery at the University College ...

    African Journals Online (AJOL)

    Aim: The aim of this study was to determine the visual outcome of patients who had cataract surgery in the University College Hospital Ibadan. Methodology: This is an observational descriptive, longitudinal study of consecutive patients undergoing cataract surgery at the University College Hospital conducted between May ...

  11. Delay in Surgical Uptake for Cataract Services in a Pediatric ...

    African Journals Online (AJOL)

    tulyasys

    (19%). These differences were statistically significant. (P = 0.027). Regarding laterality, out of 34, 27 (79%) children with bilateral cataracts were presented for surgery and that of 42, 29 (69%) children with unilateral cataracts were presented for the examination, however, the differences were statistically insignificant (P = 0.3) ...

  12. Combined Cataract and Glaucoma Surgery: An assessment of 68 ...

    African Journals Online (AJOL)

    Objective: To assess the best corrected visual acuity and average intraocular pressure at 6 months and one (1) year in patients with cataracts in glaucoma that had combined trabeculectomy and cataract surgery with lens implantation. Methods: A retrospective review of the case notes of patients who underwent combined ...

  13. The Impact of Cataract Surgery on Subjective Visual Functions and ...

    African Journals Online (AJOL)

    Purpose: To determine the impact of cataract surgery on visual functions (VFs) and quality of life (QoL) in patients with cataract at the National Eye Center, Kaduna. Methods: VFs and QoL questionnaires were administered to the patients preoperatively and 6 weeks postoperatively. Correlation was assessed among ...

  14. Phacoemulsification of bilateral cataracts in two pet rabbits | Gomes ...

    African Journals Online (AJOL)

    Two 3 year-old, healthy, client-owned Lop rabbits presented with bilateral cataracts. After performing a physical examination, bloodwork, ocular ultrasonography and electroretinography, both animals were deemed good surgical candidates for phacoemulsification. Bilateral cataract surgery was performed and both rabbits ...

  15. Exploiting ensemble learning for automatic cataract detection and grading.

    Science.gov (United States)

    Yang, Ji-Jiang; Li, Jianqiang; Shen, Ruifang; Zeng, Yang; He, Jian; Bi, Jing; Li, Yong; Zhang, Qinyan; Peng, Lihui; Wang, Qing

    2016-02-01

    Cataract is defined as a lenticular opacity presenting usually with poor visual acuity. It is one of the most common causes of visual impairment worldwide. Early diagnosis demands the expertise of trained healthcare professionals, which may present a barrier to early intervention due to underlying costs. To date, studies reported in the literature utilize a single learning model for retinal image classification in grading cataract severity. We present an ensemble learning based approach as a means to improving diagnostic accuracy. Three independent feature sets, i.e., wavelet-, sketch-, and texture-based features, are extracted from each fundus image. For each feature set, two base learning models, i.e., Support Vector Machine and Back Propagation Neural Network, are built. Then, the ensemble methods, majority voting and stacking, are investigated to combine the multiple base learning models for final fundus image classification. Empirical experiments are conducted for cataract detection (two-class task, i.e., cataract or non-cataractous) and cataract grading (four-class task, i.e., non-cataractous, mild, moderate or severe) tasks. The best performance of the ensemble classifier is 93.2% and 84.5% in terms of the correct classification rates for cataract detection and grading tasks, respectively. The results demonstrate that the ensemble classifier outperforms the single learning model significantly, which also illustrates the effectiveness of the proposed approach. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  16. Challenges to the Elimination of Cataract Blindness in Nigeria as ...

    African Journals Online (AJOL)

    ophthalmic manpower for primary health centers is lacking. Equipments for modern cataract surgery is lacking as only 45.2% of practitioners have them for practice in their institutions. Institutional cataract surgery output is low; averaging 50-92 a year, ...

  17. Carbon footprint and cost-effectiveness of cataract surgery.

    Science.gov (United States)

    Venkatesh, Rengaraj; van Landingham, Suzanne W; Khodifad, Ashish M; Haripriya, Aravind; Thiel, Cassandra L; Ramulu, Pradeep; Robin, Alan L

    2016-01-01

    This article raises awareness about the cost-effectiveness and carbon footprint of various cataract surgery techniques, comparing their relative carbon emissions and expenses: manual small-incision cataract surgery (MSICS), phacoemulsification, and femtosecond laser-assisted cataract surgery. As the most commonly performed surgical procedure worldwide, cataract surgery contributes significantly to global climate change. The carbon footprint of a single phacoemulsification cataract surgery is estimated to be comparable to that of a typical person's life for 1 week. Phacoemulsification has been estimated to be between 1.4 and 4.7 times more expensive than MSICS; however, given the lower degree of postoperative astigmatism and other potential complications, phacoemulsification may still be preferable to MSICS in relatively resource-rich settings requiring high levels of visual function. Limited data are currently available regarding the environmental and financial impact of femtosecond laser-assisted cataract surgery; however, in its current form, it appears to be the least cost-effective option. Cataract surgery has a high value to patients. The relative environmental impact and cost of different types of cataract surgery should be considered as this treatment becomes even more broadly available globally and as new technologies are developed and implemented.

  18. Risk factors which cause senile cataract evolvement: outline

    Directory of Open Access Journals (Sweden)

    E.V. Bragin

    2018-03-01

    Full Text Available Examination of natural ageing processes including those caused by multiple external factors has been attracting re-searchers' attention over the last years. Senile cataract is a multi-factor disease. Expenditure on cataract surgery remain one of the greatest expenses items in public health care. Age is a basic factor which causes senile cataract. Morbidity with cataract doubles each 10 years of life. This outline considers some literature sources which describe research results on influence exerted on cataract evolvement by such risk factors as age, sex, race, smoking, alcohol intake, pancreatic diabetes, intake of certain medications, a number of environmental factors including ultraviolet and ionizing radiation. mane of these factors are shown to increase or reduce senile cataract risk; there are conflicting data on certain factors. The outline also contains quantitative characteristics of cataract risks which are given via odds relation and evolve due to age parameters impacts, alcohol intake, ionizing radiation, etc. The authors also state that still there is no answer to the question whether dose-effect relationship for cataract evolvement is a threshold or non-threshold.

  19. Solar cataract: A clinical report | Ahuama | Journal of Health and ...

    African Journals Online (AJOL)

    Solar Ultraviolet radiation is caractogenic, as there is increasing evidence implicating ultraviolet radiation as a risk factor in the aetiology of cataracts. Through absorption from sunlight exposure especially into the violet and of the visible range of the solar spectrum, cataract formation may occur due to physiochemical ...

  20. retrobulbar versus sub-conjunctival anaesthesia for cataract surgery ...

    African Journals Online (AJOL)

    DDS EYE CENTER

    Aim: To test the efficacy of subconjunctival anaesthesia (SCA) for cataract surgery against the established retrobulbar anaesthesia (RBA). Methods: This was a prospective study of 73 adults (44 males, 29 females) selected for cataract surgery and intraocular lens. (IOL) implants under local anaesthesia. Their ages ranged.

  1. Time-specific blockade of PDGFR with Imatinib (Glivec®) causes cataract and disruption of lens fiber cells in neonatal mice.

    Science.gov (United States)

    Zhou, Yin-Pin; He, Yang-Tao; Chen, Cheng-Li; Ji, Jun; Niu, Jian-Qin; Wang, Han-Zhi; Li, Shi-Feng; Huang, Lan; Mei, Feng

    2011-03-01

    This study aimed at investigating the response of lens epithelial cells in postnatal mice to Imatinib (Glivec®, a potent inhibitor of platelet-derived growth factor receptor (PDGFR)) treatment. Mouse eyes were sampled 10 days after administration of Imatinib (0.5 mg·g(-1)·day(-1)) for 3 days, at either 7, 14, or 21 days postpartum. Structural changes of lens were revealed by routine H.E. staining. Levels of proliferation and apoptosis were revealed by BrdU incorporation and terminal deoxynucleotidyl transferase dUTP nick end labeling (TUNEL) assay, respectively, and immunofluorescent staining with anti-PDGFRα antibody was carried out on the sections of eyeball. PDGFRα and p-PDGFRαprotein levels were evaluated by Western blot. Our results indicated that administration of Imatinib led to blockade of PDGFR signaling. Formation of cataracts was found only in those mice where treatment started from 7 days postpartum (P7), but was not observed in those samples from P14 nor P21. Fiber cells were disorganized in cataract lens core as observed histologically, and migration of epithelial cells was also inhibited. No apoptosis was detected with the TUNEL method. Our results indicated blockade of PDGFR at the neonatal stage (P7) would lead to cataracts and lens fiber cells disorganization, suggesting that PDGFR signaling plays a time-specific and crucial role in the postnatal development of lens in the mouse, and also may provide a new approach to produce a congenital cataract animal model.

  2. Congenital orbital teratoma.

    Science.gov (United States)

    Aiyub, Shereen; Chan, Wengonn; Szetu, John; Sullivan, Laurence J; Pater, John; Cooper, Peter; Selva, Dinesh

    2013-12-01

    We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The patient underwent a lid-sparing exenteration with frozen section control of the apical margin. A dermis fat graft from the groin was placed beneath the lid skin to provide volume. Histopathology revealed mature tissues from each of the three germ cell layers which confirmed the diagnosis of mature teratoma. We describe the successful use of demis fat graft in socket reconstruction following lid-sparing exenteration for congenital orbital teratoma.

  3. Congenital orbital teratoma

    Directory of Open Access Journals (Sweden)

    Shereen Aiyub

    2013-01-01

    Full Text Available We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The patient underwent a lid-sparing exenteration with frozen section control of the apical margin. A dermis fat graft from the groin was placed beneath the lid skin to provide volume. Histopathology revealed mature tissues from each of the three germ cell layers which confirmed the diagnosis of mature teratoma. We describe the successful use of demis fat graft in socket reconstruction following lid-sparing exenteration for congenital orbital teratoma.

  4. Congenital Constriction Band Syndrome

    OpenAIRE

    Rajesh Gupta, Fareed Malik, Rishabh Gupta, M.A.Basit, Dara Singh

    2008-01-01

    Congenital constriction bands are anomalous bands that encircle a digit or an extremity. Congenitalconstriction band syndrome is rare condition and is mostly associated with other musculoskeletaldisorders.We report such a rare experience.

  5. Congenital anterior urethral diverticulum

    International Nuclear Information System (INIS)

    Jung, Hyun Sub; Chung, Young Sun; Suh, Chee Jang; Won, Jong Jin

    1985-01-01

    Two cases of congenital anterior urethral diverticular which have occurred in a 4 year old and one month old boy are presented. Etiology, diagnostic procedures, and its clinical results are briefly reviewed

  6. Cataract and progressing keratoconus — solution?

    Directory of Open Access Journals (Sweden)

    K. B. Pershin

    2015-01-01

    Full Text Available Purpose: To develop an uniform method of the treatment for patients with progressive keratoconus (stage 1‑2 and cataract. Patients and methods: 4 patients (5 eyes with cataract and progressive keratoconus stage 1‑2 were enrolled in the study. Mean age was 42 years. In all patients, standard ophthalmic examination as well corneal topography, anterior segment optical coherence tomography, biometry, and IOL power calculations using IOLMaster were performed. Mean uncorrected visual acuity (UCVA was 0.1 while mean best-corrected visual acuity (BCVA was 0.4. Surgical technique included two steps. The first step was the creation of corneal tunnels with femtosecond laser with subsequent phaco and monofocal aspheric IOL implantation. The second step (1‑2 weeks later was the implantation of intrastromal ring segments based on corneal topography and corneal crosslinking.Results: After the first step, all patients had myopic refraction (from –1.0 D to –2.5 D. Cylindrical component was almost unchanged. After the second step, the patients reported the vision improvement, mainly due to UCVA. Both spherical (myopic and cylindrical components decreased, mainly due to the steep meridian. After the treatment, optical power of the cornea decreased, mainly due to the steep meridian. UCVA was 0.6 or more in 60 % of cases, final BCVA was 0.8‑1.0 in 80 % of cases. Neither intraoperative nor postoperative (follow-up was 2 years complications were observed.Conclusions: Combined phaco and prior creation of corneal tunnels with subsequent intrastromal ring segment implantation and crosslinking in patients with cataract and progressive keratoconus stage 1‑2 is safe, provides good predictable outcome and significantly reduces rehabilitation period.

  7. Internal wave structures in abyssal cataract flows

    Science.gov (United States)

    Makarenko, Nikolay; Liapidevskii, Valery; Morozov, Eugene; Tarakanov, Roman

    2014-05-01

    We discuss some theoretical approaches, experimental results and field data concerning wave phenomena in ocean near-bottom stratified flows. Such strong flows of cold water form everywhere in the Atlantic abyssal channels, and these currents play significant role in the global water exchange. Most interesting wave structures arise in a powerful cataract flows near orographic obstacles which disturb gravity currents by forced lee waves, attached hydraulic jumps, mixing layers etc. All these effects were observed by the authors in the Romanche and Chain fracture zones of Atlantic Ocean during recent cruises of the R/V Akademik Ioffe and R/V Akademik Sergei Vavilov (Morozov et al., Dokl. Earth Sci., 2012, 446(2)). In a general way, deep-water cataract flows down the slope are similar to the stratified flows examined in laboratory experiments. Strong mixing in the sill region leads to the splitting of the gravity current into the layers having the fluids with different densities. Another peculiarity is the presence of critical layers in shear flows sustained over the sill. In the case under consideration, this critical level separates the flow of near-bottom cold water from opposite overflow. In accordance with known theoretical models and laboratory measurements, the critical layer can absorb and reflect internal waves generated by the topography, so the upward propagation of these perturbations is blocked from above. High velocity gradients were registered downstream in the vicinity of cataract and it indicates the existence of developed wave structures beyond the sill formed by intense internal waves. This work was supported by RFBR (grants No 12-01-00671-a, 12-08-10001-k and 13-08-10001-k).

  8. Evaluation of diopter after cataract surgery in high myopia combined cataract

    Directory of Open Access Journals (Sweden)

    Wan-Qi Zhang

    2015-02-01

    Full Text Available AIM: To observe the diopter after cataract surgery for vision gain in high myopia and its effect on visual outcomes. METHODS: Sixty(120 eyeshigh myopia combined with cataract cases received phacoemulsification and intraocular lens implantation in our hospital were retrospective studied. The patients were divided into three groups based on postoperative diopter: -1.0~-2.0D(group A, -2.25~-3.0D(group Band -3.25~-4.0D(group C. The uncorrected distance visual acuity(UCDVA, best corrected distant visual acuity(BCDVA, uncorrected near visual acuity(UCNVAand questionnaire of Activities of Daily Vision Scale(ADVSwere collected to assess the vision gain at 3mo after cataract surgery. RESULTS: At 3mo after surgery, UCDVA of group A was better than that of group B, and UCDVA of group B was better than that of group C. There were no differences in BCDVA among groups. There were significant differences between the three groups' UCNVA, it was best for the group C, followed by the group B, group A was the worst. For questionnaire, no difference was observed in patients' satisfactory for surgical results, but a significant difference was detected in postoperative glasses wearing frequency between groups. CONCLUSION:For cataract surgery in high myopia combined cataract, postoperative diopter should be calculated based on patients' daily requirements. For patients had not used to wearing glasses and near distant working condition, it's appropriated to reserve a minor degree of myopia. Conversely, for patients require near distant working and received wearing moderate and low hyperopia mirror, higher degree of myopia can be reserved.

  9. Simultaneous bilateral cataract surgery: economic analysis; Helsinki Simultaneous Bilateral Cataract Surgery Study Report 2.

    Science.gov (United States)

    Leivo, Tiina; Sarikkola, Anna-Ulrika; Uusitalo, Risto J; Hellstedt, Timo; Ess, Sirje-Linda; Kivelä, Tero

    2011-06-01

    To present an economic-analysis comparison of simultaneous and sequential bilateral cataract surgery. Helsinki University Eye Hospital, Helsinki, Finland. Economic analysis. Effects were estimated from data in a study in which patients were randomized to have bilateral cataract surgery on the same day (study group) or sequentially (control group). The main clinical outcomes were corrected distance visual acuity, refraction, complications, Visual Function Index-7 (VF-7) scores, and patient-rated satisfaction with vision. Health-care costs of surgeries and preoperative and postoperative visits were estimated, including the cost of staff, equipment, material, floor space, overhead, and complications. The data were obtained from staff measurements, questionnaires, internal hospital records, and accountancy. Non-health-care costs of travel, home care, and time were estimated based on questionnaires from a random subset of patients. The main economic outcome measures were cost per VF-7 score unit change and cost per patient in simultaneous versus sequential surgery. The study comprised 520 patients (241 patients included non-health-care and time cost analyses). Surgical outcomes and patient satisfaction were similar in both groups. Simultaneous cataract surgery saved 449 Euros (€) per patient in health-care costs and €739 when travel and paid home-care costs were included. The savings added up to €849 per patient when the cost of lost working time was included. Compared with sequential bilateral cataract surgery, simultaneous bilateral cataract surgery provided comparable clinical outcomes with substantial savings in health-care and non-health-care-related costs. No author has a financial or proprietary interest in any material or method mentioned. Copyright © 2011 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

  10. Congenital chylous ascites

    International Nuclear Information System (INIS)

    Romanska-Kita, J.; Borszewska-Kornacka, M. K.; Rudzinska, I.; Wawrzoniak, T.; Dobrzanska, A.; Czech-Kowalska, J.

    2011-01-01

    Congenital chylous ascites is a rare entity, conditioned by numerous factors and with changing dynamics of the disease. Because of the lack of therapeutic and diagnostic standards, this disease constitutes to be a medical challenge. This article presents current knowledge on pathogenesis, diagnostics and management of this disease, as well as a case of a newborn with primary congenital chylous ascites in the abdominal cavity. (authors)

  11. Multifocal Congenital Hemangiopericytoma.

    Science.gov (United States)

    Robl, Renata; Carvalho, Vânia Oliveira; Abagge, Kerstin Taniguchi; Uber, Marjorie; Lichtvan, Leniza Costa Lima; Werner, Betina; Mehrdad Nadji, Mehrdad

    2017-01-01

    Congenital hemangiopericytoma (HPC) is a rare mesenchymal tumor with less aggressive behavior and a more favorable prognosis than similar tumors in adults. Multifocal presentation is even less common than isolated HPC and hence its clinical and histologic recognition may be challenging. A newborn infant with multifocal congenital HPC causing severe deformity but with a favorable outcome after chemotherapy and surgical removal is reported. © 2016 Wiley Periodicals, Inc.

  12. The risk of cataract in relation to metal arc welding

    DEFF Research Database (Denmark)

    Slagor, Rebekka Michaelsen; Dornonville de la Cour, Morten; Bonde, Jens Peter

    2016-01-01

    .95–1.21] and the adjusted HR was 1.08 (95% CI 0.95–1.22). Age and diabetes were as expected strong risk factors. Conclusion: We found no increased risk of developing cataract among Danish metal welders who worked with arc welding from 1950–1985. This may be attributed to the effectiveness of personal safety equipment....... increases the risk of cataract. Method: We compared the risk of being diagnosed with cataract from 1987–2012 in a historic cohort of 4288 male metal arc welders against a reference group comprised of Danish skilled and unskilled male workers with similar age distribution. For the welders’ cohort...... adjusted for baseline data regarding age, diabetes, and social group. Results: There were 266 welders and 29 007 referents with a diagnosis and/or operation for cataract. The unadjusted HR for cataract comparing ever-welders with referents was 1.07 [95% confidence interval (95% CI) 0...

  13. Recent advances in femtosecond laser-assisted cataract surgery

    Directory of Open Access Journals (Sweden)

    Zhao-Jie Chu

    2013-07-01

    Full Text Available Perfect vision and fewer complications is our goal in cataract surgery, femtosecond laser-assisted cataract surgery hold the promise. Applications of femtosecond laser technology for capsulotomy, nuclear fragmentation and corneal incision in cataract surgery bring a new level of accuracy, reproducibility and predictability over the current cataract surgery. The femtosecond laser produces capsulotomies that are more precise, accurate, reproducible, and stronger than those created with the conventional manual technique, and further helps maintain proper positioning of the IOL. Femtosecond laser in nuclear fragmentation lead to a lower effective phacoemulsification time, and the corneal incision is more stable. But currently there are some complications and a clear learning curve associated with the use of femtosecond lasers for cataract surgery. The long-term safety and visual outcomes still need further investigation.

  14. Glaucoma and cataract surgery: two roads merging into one.

    Science.gov (United States)

    Shah, Manjool; Law, Geoffrey; Ahmed, Iqbal Ike K

    2016-01-01

    To discuss the increasing utilization of cataract extraction in the management of glaucoma and to highlight advances in surgical care that can promote synergistic treatment of these comorbid conditions. Recent years have demonstrated significant advances in the management of glaucoma through the use of novel microinvasive glaucoma devices. Furthermore, an increased understanding of the role of cataract surgery in the treatment of various glaucomas warrants review. Nevertheless, cataract surgery in the glaucoma patient warrants specific preoperative, intraoperative, and postoperative planning to optimize visual function and quality of life while mitigating potential risk factors for adverse events. Although the challenges of performing cataract extraction on glaucoma patients exist, the potential benefit to these patients is substantial. With attention to pre- and perioperative surgical planning and intraoperative technique, as well as with awareness and potential utilization of novel devices and treatment strategies, cataract extraction offers a unique platform for anatomical and functional improvement in this increasingly common cohort of patients.

  15. Neural correlates of olfactory processing in congenital blindness

    DEFF Research Database (Denmark)

    Kupers, R; Beaulieu-Lefebvre, M; Schneider, F C

    2011-01-01

    Adaptive neuroplastic changes have been well documented in congenitally blind individuals for the processing of tactile and auditory information. By contrast, very few studies have investigated olfactory processing in the absence of vision. There is ample evidence that the olfactory system...... magnetic resonance imaging to measure changes in the blood-oxygenation level-dependent signal in congenitally blind and blindfolded sighted control subjects during a simple odor detection task. We found several group differences in task-related activations. Compared to sighted controls, congenitally blind......, linking it also to olfactory processing in addition to tactile and auditory processing....

  16. Silent information regulator T1 in aqueous humor of patients with cataract

    Directory of Open Access Journals (Sweden)

    Kondo A

    2016-02-01

    Full Text Available Aki Kondo,1 Mari Goto,2 Tatsuya Mimura,1 Masao Matsubara1 1Department of Ophthalmology, Tokyo Women’s Medical University Medical Center East, 2Tokyo Metropolitan Cancer and Infectious Diseases Center, Komagome Hospital, Tokyo, Japan Purpose: Silent information regulator T1 (SIRT1, a member of the sirtuin family, has a preventive role in various ocular diseases. We evaluated the relations between the aqueous humor level of SIRT1 and age, sex, systemic diseases, the severity of lens opacity, and other factors. Setting: This study was conducted at a university teaching hospital in Tokyo, Japan. Design: This study was designed based on the consecutive case series. Methods: Aqueous humor samples were obtained from 29 eyes of the 21 consecutive patients undergoing surgery for age-related cataract (ARC. SIRT1 levels were determined by enzyme-linked immunosorbent assay. Results: Aqueous humor levels of SIRT1 showed a positive correlation with visual acuity (logarithm of the minimum angle of resolution and with the severity of nuclear cataract (r=0.32 and 0.30, respectively, P<0.05. However, only visual acuity was correlated with SIRT1 according to the stepwise multiple regression analysis (P<0.05. Conclusion: These findings suggest that SIRT1 may have an effect on the formation of ARC, acting as a defensive factor against ARC. Keywords: SIRT1, sirtuin, cataract surgery, oxidative stress, resveratrol, ocular aging

  17. Bilateral Electrical Cataract: A Case Report

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    Selçuk Sızmaz

    2011-06-01

    Full Text Available To present a rare complication, such as bilateral cataracts, in a man who sustained a high-voltage electrical injury. A 35- year-old man was admitted with a complaint of decrease in visual acuity. He had a history of a contact with a power line carrying 30.000 volts of electricity while working at a construction site. Examination at a burn center revealed second-degree facial, neck and left foot burns. One month later, the patient underwent amputation of fourth and fifth toes of his left foot. During the next 6 months, he noted decreasing vision in both eyes. Ocular examination 1 year after the accident revealed that the patient’s visual acuity had deteriorated to 1/10 in both eyes. The cornea on the left eye showed superficial punctate opacities. The lenses in both eyes had anterior subcapsular cortical lens opacities and posterior subcapsular opacities. Uncomplicated bilateral phacoemulsification surgery with intraocular lens implantation was performed and the patient’s visual acuity returned to 10/10 in both eyes. We noted that the fundus remained normal in both eyes. Electrical cataracts are still a serious potential complication that may occur after electrical injury. Awareness of this by burn team members is important for providing optimal treatment to those who have suffered an electrical injury. (Turk J Ophthalmol 2011; 41: 197-9

  18. Human lens colouration, age and cataract

    International Nuclear Information System (INIS)

    Truscott, R.J.W.; Garner, B.; Hood, B.

    1999-01-01

    Full text: The human lens biosynthesises UV filter compounds which effectively remove light in the 300-400nm band. These chemicals are present either as an aid to visual acuity, or to filter out damaging UV radiation. The primate UV filters are 3-hydroxykynurenine analogues derived from the metabolism of tryptophan. We have recently demonstrated that these endogenous UV filters are not innocuous, but are in fact capable of binding to proteins, including the crystalline proteins which make up the bulk of the lens. Thus, over time, the levels of protein - bound UV filters increase and this results in the human lens becoming progressively more yellow as we age. This colouration affects our colour vision and it may also be responsible for the brown colour of lenses which is the hallmark of age-related nuclear cataract. An understanding of the intrinsic instability of the endogenous UV filters, combined with changes in the internal transport of these and other small molecular weight compounds including antioxidants, such as glutathione, is allowing us to gain an insight into the processes responsible for the development of age-related cataract: the major cause of world blindness

  19. Management of cataract in uveitis patients.

    Science.gov (United States)

    Conway, Mandi D; Stern, Ethan; Enfield, David B; Peyman, Gholam A

    2018-01-01

    This review is timely because the outcomes of surgical invention in uveitic eyes with cataract can be optimized with adherence to strict anti-inflammatory principles. All eyes should be free of any cell/ flare for a minimum of 3 months preoperatively. Another helpful maneuver is to place dexamethasone in the infusion fluid or triamcinolone intracamerally at the end of surgery. Recent reports about the choice of intraocular lens material or lens design are germane to the best surgical outcome. Integrating these findings will promote better visual outcomes and allow advancement in research to further refine these surgical interventions in high-risk uveitic eyes. Control of inflammation has been shown to greatly improve postoperative outcomes in patients with uveitis. Despite better outcomes, more scientific research needs to be done regarding lens placement and materials and further research needs to adhere to the standardized reporting of uveitis nomenclature. Future studies should improve postoperative outcomes in eyes with uveitis so that they approach those of eyes undergoing routine cataract procedures.

  20. How to prevent endophthalmitis in cataract surgeries?

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    Kelkar Aditya

    2008-01-01

    Full Text Available Postoperative endophthalmitis is a very devastating complication and every step should be taken to reduce its occurrence. Unattended air conditioning filter systems are often the culprits and regular maintenance of the filters is of paramount importance. Shedders of pathogenic organisms amongst the theater personnel should be identified by regular screening and should be promptly treated. In addition to the use of Povidone iodine 5% solution in the conjunctival sac few minutes prior to surgery, proper construction of wound, injectable intraocular lenses, use of prophylactic intracameral antibiotics or prophylactic subconjunctival antibiotic injection at the conclusion of cataract surgery, placing a patch after the surgery for at least 4 h and initiating topical antibiotics from the same day of surgery helps to lower the frequency of postoperative endophthalmitis. Intraoperative posterior capsule rupture and anterior vitrectomy are risk factors for acute endophthalmitis, and utmost care to prevent posterior capsular rent should be taken while performing cataract surgery. Also, in case of such complication, these patients should be closely monitored for early signs of endophthalmitis in the postoperative period. In the unfortunate event of endophthalmitis the diagnosis should be prompt and treatment must be initiated as early as possible.

  1. Non cancerous diseases following a chronic intern contamination by caesium 137: cataracts and cardiac arrhythmias

    International Nuclear Information System (INIS)

    Landon, G.

    2008-07-01

    This work of thesis joins within the framework of an analysis of the sanitary consequences of the nuclear accident of Chernobylsk. Since 2005, the I.R.S.N. is interested in the not cancerous pathologies (cataracts, and cardiac arrhythmias) observed among the children living on the contaminated territories after the fallout of Chernobylsk and has in this aim implemented a research programme called E.P.I.C.E. (Evaluation of the pathologies induced by a chronicle contamination by cesium) whom objective is to show an eventual link between the chronicle ingestion of contaminated food and these pathologies emergence. An exploitation of the results of the pilot study,first phase of the E.P.I.C.E. program was realized. The analysis was completed by two bibliographical reviews relative to the knowledge available on these diseases. The results of this pilot study suggest: on one hand, an absence of link between the activity in cesium 137 at the level of the heart, of the whole body and the emergence of disorder of the heart rhythm; on the other hand, for the cases of cataract, a link between the load in cesium 137 at the neck level and the emergence of the disease in 40 % of the cases. However, these results must be considered with caution because several limits and, in particular, a way of selection affect this study. concerning the scientific literature, this one stays rather poor because only thee articles make reference to a relationship between cesium 137 and the emergence of these non cancerous pathologies. After having exposed the context, this thesis draws up the situation of knowledge relative to cataracts and to cardiac arrhythmias and their possible relationship with ionizing radiations, collect the results stemming from the analysis of the pilot study and envisages future epidemiological studies. (N.C.)

  2. Role of cataract surgery in lowering intraocular pressure

    International Nuclear Information System (INIS)

    Ahmad, S.; Sabih, A.

    2015-01-01

    To study the effects of cataract surgery in lowering of intraocular pressure (IOP). Study Design: Retrospective study. Place and Duration of Study: The Department of Ophthalmology, Combined Military Hospital, Rawalpindi from January 2011 to December 2013. Patients and Methods: The study included a total of 250 patients; of which 100 cases had simple cataract with no coexisting disease, 100 cases had cataract with primary open angle glaucoma and 50 cases of cataract had accompanying pseudoexfoliation glaucoma. All patients were assessed and recorded preoperatively for their IOP, vision, depth of anterior chamber (ACD), angle of anterior chamber by gonioscopy and glaucoma medications being used. Cataract surgery was performed by phacoemulsification and IOL implantations in all cases. These patients were followed up for a period of six months. Results: The intraocular ressure of all these patients was recorded at monthly interval for six months. The IOP showed a significant decrease in all cases and remained constant till the end of the study. A marked improvement of vision was noted in all cases. The depth of the anterior chamber increased and the angle also widened in all cases. Discussion: Cataract surgery has been found to reduce IOP along with improvement in vision. Patients with glaucoma have a dual benefit of reduced IOP and visual improvement after cataract surgery. (author)

  3. Risk of occupational radiation-induced cataract in medical workers

    International Nuclear Information System (INIS)

    Snezana, Milacic

    2008-01-01

    The objective of this study was determination of criteria for recognition of a pre senile cataract as a professional disease in health care personnel exposed to small doses of ionizing radiation. Method: The study included 3240 health workers in medical centers of Serbia in the period 1992-2002. A total of 1560 workers were employed in the zone (group A) and 1680 out of ionizing radiation zone (group B). Among group A, two groups had been selected: 1. Group A-1: Health workers in the ionizing radiation zone who contracted lens cataract during their years of service while dosimetry could not reveal higher absorbed dose (A-1=115); 2. Group A-2: Health workers in the ionizing radiation zone with higher incidence of chromosomal aberrations and without cataract (A-2=100). Results: More significant incidence of cataract was found in group A, χ 2 =65.92; p<0.01. Radiation risk was higher in health workers in radiation zone than in others, relative risk is 4, 6. Elevated blood sugar level was found in higher percentage with health workers working in radiation zone who developed cataract. Conclusion: Low doses of radiation are not the cause of occupational cataract as individual occupational disease. X-ray radiation may be a significant cofactor of cataract in radiological technicians. (author)

  4. Evaluation of the macula prior to cataract surgery.

    Science.gov (United States)

    McKeague, Marta; Sharma, Priya; Ho, Allen C

    2018-01-01

    To describe recent evidence regarding methods of evaluation of retinal structure and function prior to cataract surgery. Studies in patients with cataract but no clinically detectable retinal disease have shown that routine use of optical coherence tomography (OCT) prior to cataract surgery can detect subtle macular disease, which may alter the course of treatment or lead to modification of consent. The routine use of OCT has been especially useful in patients being considered for advanced-technology intraocular lenses (IOLs) as subtle macular disease can be a contraindication to the use of these lenses. The cost-effectiveness of routine use of OCT prior to cataract surgery has not been studied. Other technologies that assess retinal function rather than structure, such as microperimetry and electroretinogram (ERG) need further study to determine whether they can predict retinal potential in cataract patients. There is growing evidence for the importance of more detailed retinal evaluation of cataract patients even with clinically normal exam. OCT has been the most established and studied method for retinal evaluation in cataract patients, but other technologies such as microperimetry and ERG are beginning to be studied.

  5. The Effect of Cataract on Eye Movement Perimetry

    Directory of Open Access Journals (Sweden)

    G. Thepass

    2015-01-01

    Full Text Available Purpose. To determine how different grades of cataract affect sensitivity threshold and saccadic reaction time (SRT in eye movement perimetry (EMP. Methods. In EMP, the visual field is tested by assessing the saccades that a subject makes towards peripheral stimuli using an eye tracker. Forty-eight cataract patients underwent pre- and postoperative EMP examination in both eyes. The subjects had to fix a central stimulus presented on the eye tracker monitor and to look at any detected peripheral stimulus upon its appearance. A multilevel mixed model was used to determine the factors that affected the sensitivity threshold and the SRT as a function of cataract grade. Results. We found no effect of cataract severity (LOCS III grades I through IV on SRT and the sensitivity thresholds. In cataract of LOCS III grade V, however, we found an increase by 27% and 21% (p<0.001, respectively, compared to the SRT and the sensitivity threshold in LOCS III grade I. Eyes that underwent cataract surgery showed no change in mean SRTs and sensitivity thresholds after surgery in LOCS III grade IV and lower. Conclusion. The present study shows that EMP can be readily used in patients with cataract with LOCS III grade IV and below.

  6. Congenital malaria in China.

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    Zhi-Yong Tao

    2014-03-01

    Full Text Available BACKGROUND: Congenital malaria, in which infants are directly infected with malaria parasites from their mother prior to or during birth, is a potentially life-threatening condition that occurs at relatively low rates in malaria-endemic regions. It is recognized as a serious problem in Plasmodium falciparum-endemic sub-Saharan Africa, where recent data suggests that it is more common than previously believed. In such regions where malaria transmission is high, neonates may be protected from disease caused by congenital malaria through the transfer of maternal antibodies against the parasite. However, in low P. vivax-endemic regions, immunity to vivax malaria is low; thus, there is the likelihood that congenital vivax malaria poses a more significant threat to newborn health. Malaria had previously been a major parasitic disease in China, and congenital malaria case reports in Chinese offer valuable information for understanding the risks posed by congenital malaria to neonatal health. As most of the literature documenting congenital malaria cases in China are written in Chinese and therefore are not easily accessible to the global malaria research community, we have undertaken an extensive review of the Chinese literature on this subject. METHODS/PRINCIPAL FINDINGS: Here, we reviewed congenital malaria cases from three major searchable Chinese journal databases, concentrating on data from 1915 through 2011. Following extensive screening, a total of 104 cases of congenital malaria were identified. These cases were distributed mainly in the eastern, central, and southern regions of China, as well as in the low-lying region of southwest China. The dominant species was P. vivax (92.50%, reflecting the malaria parasite species distribution in China. The leading clinical presentation was fever, and other clinical presentations were anaemia, jaundice, paleness, diarrhoea, vomiting, and general weakness. With the exception of two cases, all patients

  7. Congenital cytomegalovirus infection

    Directory of Open Access Journals (Sweden)

    Katarina Rednak-Paradiž

    2006-11-01

    Full Text Available Background: CMV is the most common agent that causes congenital virus infection. Only 10 % of infected children have symptomatic infection immediately after birth. Signs of central nervous system damage, neurosensory deafness and delayed psychomotor development may manifest as a result of asimptomatic congenital infection later in childhood. In the article we present basic properties of CMV; we describe clinical picture of the congenital infection and possibilities of diagnose and its treatment. We present five children with symptomatic congenital CMV infection that were hospitalized for the period 1992–2002 at the Neonatal department in the University Children’s Hospital in Ljubljana.Conclusions: Identification of infected neonates, especially those with asimptomatic congenital CMV infection, is difficult. Latest incidence of infection in Slovenia is unknown. With new investigations the efficiency of antiviral therapy was discovered but exact indications for therapy are not yet known. CMV vaccine, once available, may ultimately be the best control strategy for this important public health problem. Proper educating women in childbearing age about the risks of CMV and how to avoid disease transmission during pregnancy (hand washing, avoiding mouth-to-mouth contact with preschool children, usage of gloves especially when handling dipers or respiratory secretions are the only control strategies available.

  8. Prevalence of congenital amusia.

    Science.gov (United States)

    Peretz, Isabelle; Vuvan, Dominique T

    2017-05-01

    Congenital amusia (commonly known as tone deafness) is a lifelong musical disorder that affects 4% of the population according to a single estimate based on a single test from 1980. Here we present the first large-based measure of prevalence with a sample of 20 000 participants, which does not rely on self-referral. On the basis of three objective tests and a questionnaire, we show that (a) the prevalence of congenital amusia is only 1.5%, with slightly more females than males, unlike other developmental disorders where males often predominate; (b) self-disclosure is a reliable index of congenital amusia, which suggests that congenital amusia is hereditary, with 46% first-degree relatives similarly affected; (c) the deficit is not attenuated by musical training and (d) it emerges in relative isolation from other cognitive disorder, except for spatial orientation problems. Hence, we suggest that congenital amusia is likely to result from genetic variations that affect musical abilities specifically.

  9. Systemic aspirin and systemic vitamin E in senile cataracts : cataract V

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    Sharma Y

    1989-01-01

    Full Text Available We undertook a prospective study in senile cataract patients using systemic aspirin and systemic vitamin E. Vitamin E treated eyes did show less progression of PSC opacities extent and less new nuclear opacities during the follow-up, but overall vitamin E treated eyes did no better than the control group eyes. More eyes in systemic aspirin treated group maintained the initial vision and loss of vision in the aspirin group was also less marked. Aspirin also caused a significant less mean increase in cortical opacity extent, nuclear/opacity and density and PSC opacity extent and density as well as in ophthalmoscopically graded opacity extent and density. We suggest that aspirin is a potential drug which should be further evaluated in large double blind photodocumentated studies. The present data does not justify the recommendation that aspirin be prescribed for slowing down cataract progression. This must await large studies and confirmation.

  10. Cataract and keratoconus: minimizing complications in intraocular lens calculations.

    Science.gov (United States)

    Bozorg, Sara; Pineda, Roberto

    2014-01-01

    Patients with both cataract and keratoconus present unique challenges for the surgeon. Accurate keratometry (K) and axial length (AL) readings may be impossible, and uncertainty is introduced when estimating the corneal power for intraocular lens (IOL) selection. Different options on how to choose an IOL and how to manage irregular astigmatism of a keratoconic patient with cataract have been proposed and are reviewed. The stage of keratoconus and the history of the patient are both critical in determining the strategy used in treatment of cataracts.

  11. Nitrofurantoin and congenital abnormalities

    DEFF Research Database (Denmark)

    Czeizel, A.E.; Rockenbauer, M.; Sørensen, Henrik Toft

    2001-01-01

    or fetuses with Down’s syndrome (patient controls), 23 (2.8%) pregnant women were treated with nitrofurantoin. The above differences between population controls and cases may be connected with recall bias, because the case-control pair analysis did not indicate a teratogenic potential of nitrofurantoin use......Objective: To study human teratogenic potential of oral nitrofurantoin treatment during pregnancy. Materials and Methods: Pair analysis of cases with congenital abnormalities and matched population controls in the population-based dataset of the Hungarian Case-Control Surveillance of Congenital...... during the second and the third months of gestation, i.e. in the critical period for major congenital abnormalities. Conclusion: Treatment with nitrofurantoin during pregnancy does not present detectable teratogenic risk to the fetus....

  12. Congenital syphilis: literature review

    Directory of Open Access Journals (Sweden)

    Eduardo Chaida Sonda

    2013-01-01

    Full Text Available Syphilis is an infectious disease caused by Treponema pallidum and has high rates of vertical transmission, which can reach 100% depending on the maternal disease and stage of pregnancy. The diagnosis of gestational syphilis is simple and its screening is required during the prenatal period. However, this disease still has a high prevalence, affecting two million pregnant women worldwide. The procedures performed in newborns with congenital syphilis represent costs that are three-fold higher than the ones spent with a baby without this infection. The treatment is generally carried out with penicillin and must be extended to sexual partners. Inadequate or lack of treatment of congenital syphilis can result in miscarriage, premature birth, acute complications and other fetal sequelae. KEYWORDS: Congenital syphilis. Treponema pallidum. Vertical transmission.

  13. Microincision versus small-incision coaxial cataract surgery using different power modes for hard nuclear cataract.

    Science.gov (United States)

    Kim, Eun Chul; Byun, Yong Soo; Kim, Man Soo

    2011-10-01

    To compare the efficacy of microincision and small-incision coaxial phacoemulsification in treating hard cataracts using different ultrasound power modes. Department of Ophthalmology, Seoul St. Mary's Hospital, College of Medicine, Catholic University of Korea, Seoul, Korea. Randomized clinical trial. Eyes with hard cataract were randomized to have an initial incision of 1.80 mm, 2.20 mm, or 2.75 mm. The eyes in each group were equally randomized to treatment with burst, pulse, or continuous mode. Ultrasound time (UST), mean cumulative dissipated energy (CDE), corrected distance visual acuity (CDVA), surgically induced corneal astigmatism, incisional and central corneal thickness (CCT), and endothelial cell counts were evaluated. The study enrolled 180 eyes, 60 in each group. Two months postoperatively, there were no statistically significant differences in UST, CDE, CDVA, CCT, or percentage endothelial cell loss between the 3 incision groups. The 2.75 mm incision induced more astigmatism at 2 months and less incisional corneal edema at 1 week than the 1.80 mm or 2.20 mm incision (Phard cataract. The intraoperative energy use and ocular damage was less with the pulse and burst modes than with the continuous mode. No author has a financial or proprietary interest in any material or method mentioned. Copyright © 2011 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

  14. Congenital maxillary double lip

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    Dinesh Singh Chauhan

    2012-01-01

    Full Text Available Double lip, also referred to as "macrocheilia," is a rare anomaly which affects the upper lip more commonly than the lower lip. It consists of a fold of excess or redundant hypertrophic tissue on the mucosal side of the lip. The congenital double lip is believed to be present at birth and becomes more prominent after eruption of teeth. It affects esthetics and also interferes with speech and mastication. Simple surgical excision produces good functional and cosmetic results. We report a case of a non-syndromic congenital maxillary double lip in a 21-year-old male patient.

  15. Congenital hearing impairment

    Energy Technology Data Exchange (ETDEWEB)

    Robson, Caroline D. [Children' s Hospital and Harvard Medical School, Division of Neuroradiology, Department of Radiology, Boston, MA (United States)

    2006-04-15

    Establishing the etiology of congenital hearing impairment can significantly improve treatment for certain causes of hearing loss and facilitates genetic counseling. High-resolution CT and MRI have contributed to the evaluation and management of hearing impairment. In addition, with the identification of innumerable genetic loci and genetic defects involved in hearing loss, genetic testing has emerged as an invaluable tool in the assessment of hearing impairment. Some of the common forms of congenital hearing loss are reviewed and their imaging features illustrated. (orig.)

  16. Congenital spinal malformations

    International Nuclear Information System (INIS)

    Ertl-Wagner, B.B.; Reiser, M.F.

    2001-01-01

    Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.) [de

  17. Congenital hearing impairment

    International Nuclear Information System (INIS)

    Robson, Caroline D.

    2006-01-01

    Establishing the etiology of congenital hearing impairment can significantly improve treatment for certain causes of hearing loss and facilitates genetic counseling. High-resolution CT and MRI have contributed to the evaluation and management of hearing impairment. In addition, with the identification of innumerable genetic loci and genetic defects involved in hearing loss, genetic testing has emerged as an invaluable tool in the assessment of hearing impairment. Some of the common forms of congenital hearing loss are reviewed and their imaging features illustrated. (orig.)

  18. Congenital laryngeal anomalies,

    Directory of Open Access Journals (Sweden)

    Michael J. Rutter

    2014-12-01

    Full Text Available Introduction: It is essential for clinicians to understand issues relevant to the airway management of infants and to be cognizant of the fact that infants with congenital laryngeal anomalies are at particular risk for an unstable airway. Objectives: To familiarize clinicians with issues relevant to the airway management of infants and to present a succinct description of the diagnosis and management of an array of congenital laryngeal anomalies. Methods: Revision article, in which the main aspects concerning airway management of infants will be analyzed. Conclusions: It is critical for clinicians to understand issues relevant to the airway management of infants.

  19. Congenital Heart Defects and CCHD

    Science.gov (United States)

    ... and more. Stony Point, NY 10980 Close X Home > Complications & Loss > Birth defects & other health conditions > Congenital heart defects and ... in congenital heart defects. You have a family history of congenital heart ... syndrome or VCF. After birth Your baby may be tested for CCHD as ...

  20. INTRACORNEAL AND SCLERAL CYST FOLLOWING CATARACT EXTRACTION

    Directory of Open Access Journals (Sweden)

    Gabriel van Rij

    2002-12-01

    Full Text Available Background. A six-year-old boy presented with a large progressive intracorneal and scleral cyst. Two years before, bilateral cataract surgery through a 6.5-mm corneal incision was performed elsewhere.Methods. The posterior wall of the cyst could be excised, as well as the anterior wall in the sclera. Upon histo-pathology the cyst wall was lined by epithelium. The epithelial cells of the anterior side in the cornea were removed with a curette and a corpus alienum drill. Three and a half years after removal of the cyst, there was no recurrence. Visual acuity was 0.8. Conclusions. An intracorneal and scleral inclusion cyst was successfully removed by surgical excision and the removal of epithelial cells by a curette and a corpus alienum drill.

  1. Cataract in small animals: classification and treatment

    Directory of Open Access Journals (Sweden)

    Fahiano Montiani Ferreira

    1997-02-01

    Full Text Available Cataract means any opacity present in the lens, lens capsule or both. The opacities may vary in size, location, shape and rate of progression. By slit-lamp biomicroscopy it is possible to examine them with precision, determining its exact location and peculiarities, resulting in a safe, accurate diagnosis. Due to its variable origin and appearance, several methods of classification have been used. Classification by aetiology, grade of maturity, location and age of the patients are presented in this review. Surgical removal is the only effective therapy for this disease. Among the surgical techniques available to this day, endocapsular phacoemulsification excells for its better results, despite of its high cost, if compared to classical intra and extra capsular facectomies.

  2. The Tear Osmolarity Changes After Cataract Surgery

    Directory of Open Access Journals (Sweden)

    Banu Öncel

    2012-01-01

    Full Text Available Pur po se: To determine the tear osmolarity changes in patients who had undergone phacoemulsification surgery. Ma te ri al and Met hod: Tear osmolarity measurements were performed in 30 eyes of 30 patients who had undergone cataract surgery without any complication. Measurements were performed before surgery and consecutively at 1st month, 3rd month, and 6th month after the surgery. TearLab osmometer (TearLab Corporation, San Diego, CA, USA device was used for the measurements and paired ttest was used for statistical analysis. Re sults: The mean age of the patients was 72.3±3.7 (67-78 years. Thirteen patients were men and 17 patients were women. The mean osmolarity values were 305.8±6.5 mOsm/L before the surgery and 312.3±6.4 mOsm/L at 1st month, 307.5±5.1 mOsm/L at 3rd month and 305.1±5.7 at 6th month after the surgery. The difference between the values before surgery and at 1st month was found statistically significant (p=0.001. Dis cus si on: The tear osmolarity increases at the first month after surgery but decreases to the levels measured before surgery at the 3rd month. The increase at the first month may be due to the corneal incisions and medication used after the surgery. We think that we have to take into account this similarity increase in all cataract patients, especially in those who also have dry eye disease. (Turk J Ophthalmol 2012; 42: 35-7

  3. Xenopus: An Emerging Model for Studying Congenital Heart Disease

    Science.gov (United States)

    Kaltenbrun, Erin; Tandon, Panna; Amin, Nirav M.; Waldron, Lauren; Showell, Chris; Conlon, Frank L.

    2011-01-01

    Congenital heart defects affect nearly 1% of all newborns and are a significant cause of infant death. Clinical studies have identified a number of congenital heart syndromes associated with mutations in genes that are involved in the complex process of cardiogenesis. The African clawed frog, Xenopus, has been instrumental in studies of vertebrate heart development and provides a valuable tool to investigate the molecular mechanisms underlying human congenital heart diseases. In this review, we discuss the methodologies that make Xenopus an ideal model system to investigate heart development and disease. We also outline congenital heart conditions linked to cardiac genes that have been well-studied in Xenopus and describe some emerging technologies that will further aid in the study of these complex syndromes. PMID:21538812

  4. Treating Cataracts: Dr. Rachel Bishop's Top Tips for Your Eyes

    Science.gov (United States)

    ... please turn JavaScript on. Feature: Treating Cataracts Dr. Rachel Bishop's Top Tips for Your Eyes Past Issues / ... exams, a healthy lifestyle, and eye protection. Dr. Rachel Bishop, chief of consult services at the National ...

  5. Expert System Diagnosis of Cataract Eyes Using Fuzzy Mamdani Method

    Science.gov (United States)

    Santosa, I.; Romla, L.; Herawati, S.

    2018-01-01

    Cataracts are eye diseases characterized by cloudy or opacity of the lens of the eye by changing the colour of black into grey-white which slowly continues to grow and develop without feeling pain and pain that can cause blindness in human vision. Therefore, researchers make an expert system of cataract eye disease diagnosis by using Fuzzy Mamdani and how to care. The fuzzy method can convert the crisp value to linguistic value by fuzzification and includes in the rule. So this system produces an application program that can help the public in knowing cataract eye disease and how to care based on the symptoms suffered. From the results of the design implementation and testing of expert system applications to diagnose eye disease cataracts, it can be concluded that from a trial of 50 cases of data, obtained test results accuracy between system predictions with expert predictions obtained a value of 78% truth.

  6. Treating Cataracts | NIH MedlinePlus the Magazine

    Science.gov (United States)

    ... Claudine Klose, 63, lives on a farm in New York's Hudson Valley. She had successful cataract surgery in 2013 and shared her experience recently with NIH MedlinePlus magazine. What did you notice about your vision that ...

  7. Cataract surgery in a case of carotid cavernous fistula

    Science.gov (United States)

    Nair, Akshay Gopinathan; Praveen, Smita Vittal; Noronha, Veena Olma

    2014-01-01

    A carotid-cavernous fistula (CCF) is an abnormal communication between the cavernous sinus and the carotid arterial system. The ocular manifestations include conjunctival chemosis, proptosis, globe displacement, raised intraocular pressure and optic neuropathy. Although management of CCF in these patients is necessary, the ophthalmologist may also have to treat other ocular morbidities such as cataract. Cataract surgery in patients with CCF may be associated with many possible complications, including suprachoroidal hemorrhage. We describe cataract extraction surgery in 60-year-old female with bilateral spontaneous low-flow CCF. She underwent phacoemulsification via a clear corneal route under topical anesthesia and had an uneventful postoperative phase and recovered successfully. Given the various possible ocular changes in CCF, one must proceed with an intraocular surgery with caution. In this communication, we wish to describe the surgical precautions and the possible pitfalls in cataract surgery in patients with CCF. PMID:25370401

  8. EPHA2 polymorphisms and age-related cataract in India.

    Directory of Open Access Journals (Sweden)

    Periasamy Sundaresan

    Full Text Available We investigated whether previously reported single nucleotide polymorphisms (SNPs of EPHA2 in European studies are associated with cataract in India.We carried out a population-based genetic association study. We enumerated randomly sampled villages in two areas of north and south India to identify people aged 40 and over. Participants attended a clinical examination including lens photography and provided a blood sample for genotyping. Lens images were graded by the Lens Opacification Classification System (LOCS III. Cataract was defined as a LOCS III grade of nuclear ≥4, cortical ≥3, posterior sub-capsular (PSC ≥2, or dense opacities or aphakia/pseudophakia in either eye. We genotyped SNPs rs3754334, rs7543472 and rs11260867 on genomic DNA extracted from peripheral blood leukocytes using TaqMan assays in an ABI 7900 real-time PCR. We used logistic regression with robust standard errors to examine the association between cataract and the EPHA2 SNPs, adjusting for age, sex and location.7418 participants had data on at least one of the SNPs investigated. Genotype frequencies of controls were in Hardy-Weinberg Equilibrium (p>0.05. There was no association of rs3754334 with cataract or type of cataract. Minor allele homozygous genotypes of rs7543472 and rs11260867 compared to the major homozygote genotype were associated with cortical cataract, Odds ratio (OR = 1.8, 95% Confidence Interval (CI (1.1, 3.1 p = 0.03 and 2.9 (1.2, 7.1 p = 0.01 respectively, and with PSC cataract, OR = 1.5 (1.1, 2.2 p = 0.02 and 1.8 (0.9, 3.6 p = 0.07 respectively. There was no consistent association of SNPs with nuclear cataract or a combined variable of any type of cataract including operated cataract.Our results in the Indian population agree with previous studies of the association of EPHA2 variants with cortical cataracts. We report new findings for the association with PSC which is particularly prevalent in Indians.

  9. Congenital Amusia: A Short-Term Memory Deficit for Non-Verbal, but Not Verbal Sounds

    Science.gov (United States)

    Tillmann, Barbara; Schulze, Katrin; Foxton, Jessica M.

    2009-01-01

    Congenital amusia refers to a lifelong disorder of music processing and is linked to pitch-processing deficits. The present study investigated congenital amusics' short-term memory for tones, musical timbres and words. Sequences of five events (tones, timbres or words) were presented in pairs and participants had to indicate whether the sequences…

  10. Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations

    NARCIS (Netherlands)

    van der Werf, Christine S.; Sribudiani, Yunia; Verheij, Joke B. G. M.; Carroll, Matthew; O'Loughlin, Edward; Chen, Chien-Huan; Brooks, Alice S.; Liszewski, M. Kathryn; Atkinson, John P.; Hofstra, Robert M. W.

    Purpose: Autosomal recessive congenital short bowel syndrome is caused by mutations in CLMP. No mutations were found in the affected males of a family with presumed X-linked congenital short bowel syndrome or in an isolated male patient. Our aim was to identify the disease-causing mutation in these

  11. [Outcome of cataract surgery in patients with pigmentary retinal degeneration].

    Science.gov (United States)

    Grześk, Magdalena; Kałuzny, Józef; Malukiewicz-Wiśniewska, Grazyna

    2007-01-01

    To evaluate the results of cataract surgery in patients with RP because retinitis pigmentosa is one of the disease entities that belongs to tapeto-retinal degenerations. The occurrence of RP appearance is 1:4000 to 1:3000. Twenty patients with RP (7 women and 13 men, 33 eyes), who underwent cataract surgery were examined retrospectively. Average age in our group was 46.6 years. Visual acuity, intraocular pressure, slip lamp examination, fundus examination, cataract morphology, visual field were taken before surgery and on discharge, on the basis of medical documentation. Control examination was taken, on average, eighty one months after cataract surgery. Nine eyes were operated by phacoemulsification, 24 eyes by means of extracapsular cataract extraction. In the same way control group of 18 patients who underwent cataract surgery without RP (33 eyes) was examined. In RP group in 63.6% patients on discharge from the hospital and in 60.6% patients during the control examination, improvement of visual acuity was revealed. Deterioration was noted in 18.2% of patients on discharge from hospital and in 24.2% of patients during the control examination. In the control group improvement of visual acuity was revealed in 90.9% of patients on discharge and in 97% patients during the control examination, whereas deterioration of visual acuity occurred in 6.1% patients on discharge and in 3% patients during the check examination. In patients with retinitis pigmentosa cataract occurs earlier then in the control group. Cataract surgery for relatively minor opacities is beneficial in patients with RP, and causes improvement of visual acuity in most of eyes undergoing surgery.

  12. Role of lipid peroxidation in pathogenesis of senile cataract

    Directory of Open Access Journals (Sweden)

    Kisić Bojana

    2009-01-01

    Full Text Available Background /Aim. Cataract is a structural, biochemical and optical change in the eye lens, which changes transmission and refraction of light rays reducing keenness and clarity of a figure on the retina. Its occurrence is highest in older people, over the age of 65 (45.9%, thus a certain degree of opacification exists practically in all people over the 70. Our research was directed to measuring of lipid peroxidation products in cataract lenses involved in early stages of cataractogenesis through oxidative stress and in the development of mature cataract. Methods. Clinical and biochemical research was carried out in 101 patients with cataract, 46 women and 55 men. The average age of the group was 72.47 (ґ = 7.98. According to the cataract maturity degree the patients were classified into two groups as follows: cataracta senilis incipiens (n = 41 and cataracta senilis matura (n = 60. Measuring of diene conjugates was carried out by spectrophotometer. Fluorescent lipid peroxidation products were measured by a spectrofluorophotometer, and malondialdehyde (MDA concentration was measured by colorimeter as a product of a reaction with thiobarbituric acid (TBA. Result. Significantly higher diene conjugated concentration in lenses was measured in the patients with the diagnosis cataracta senilis incipiens (p < 0.001 as well as the intensity of fluorescent iminopropens (p < 0.001. Significantly higher MDA concentration in lens (p < 0.001 was measured in the patients with cataracta senilis matura. Conclusion. The lens structure changes caused by lipid peroxidation can, with other risk factors present, influence the occurrence and development of mature cataract. Some cataract types show different lipid peroxidation intensity with the most distinct changes in cataract which started as corticonuclear.

  13. [Sir Harold Ridley--the creator of modern cataract surgery].

    Science.gov (United States)

    Obuchowska, Iwona; Mariak, Zofia

    2005-01-01

    In February 2000, the worldwide ophthalmology community celebrated the 50th anniversary of one of the twentieth century's most important innovations in eye care--the implantation of the first intraocular lens after cataract extraction by Sir Harold Ridley. It was the initiation of a golden age for the development of ophthalmology, especially cataract surgery. In our paper we would like to remember this outstanding English ophthalmologist and his great invention.

  14. Severe congenital neutropenia

    DEFF Research Database (Denmark)

    Borregaard, Niels

    2014-01-01

    In this issue of Blood, Tidwell et al1 demonstrate that mutations in the start codon (protein synthesis is initiated at the codon ATG) of neutrophil elastase (ELANE) result in the production of N-terminally truncated elastase, which mislocates to the nucleus and results in severe congenital neutr...... neutropenia (SCN)....

  15. Giant Congenital Melanocytic Nevus

    DEFF Research Database (Denmark)

    Rasmussen, Bo Sonnich; Henriksen, Trine Foged; Kølle, Stig-Frederik Trojahn

    2015-01-01

    Giant congenital melanocytic nevi (GCMN) occur in 1:20,000 livebirths and are associated with increased risk of malignant transformation. The treatment of GCMN from 1981 to 2010 in a tertiary referral center was reviewed evaluating the modalities used, cosmetic results, associated complications...

  16. Congenital neck masses.

    Science.gov (United States)

    Rosa, Peter A; Hirsch, David L; Dierks, Eric J

    2008-08-01

    Congenital neck lesions reflect abnormal embryogenesis in head and neck development. A thorough knowledge of embryology and anatomy is critical in the diagnosis and treatment of these lesions. The appropriate diagnosis of these lesions is necessary to provide appropriate treatment and long-term follow up, because some of these lesions may undergo malignant transformation or be harbingers of malignant disease.

  17. Congenital cystic eyeball

    Directory of Open Access Journals (Sweden)

    Gupta V

    1990-01-01

    Full Text Available A rare case of histopathologically proved case of congenital cystic eye in a one day old girl is described. It was an unusually large cystic mass bulging forwards stretching the upperlid. There was no rudimentary eyeball in the orbit. The cystic eye′s predilection for the left eye has been pointed out for the first time in this article.

  18. Congenital extracranial meningioma

    International Nuclear Information System (INIS)

    Wong, H.F.; Ng, S.H.; Wai, Y.Y.; Wan, Y.L.; Kong, M.S.

    1995-01-01

    The authors report a case of congenital meningioma in a newborn. This tumour is extremely rare and only six cases have been reported in the literature. Those reported cases were mainly intracranial. This is the first case of a neonatal extracranial meningioma that was evaluated preoperatively by computed tomography and magnetic resonance imaging. (orig.)

  19. Congenital cystic adenomatoid malformation

    International Nuclear Information System (INIS)

    Chaudhry, A.K.; Azam, M.; Maqsood, R.; Naz, B.; Salam, A.

    2003-01-01

    This case report presents the clinical picture, diagnostic methodology and surgical treatment of a female child who presented with chronic cough and dyspnoea due to congenital malformation of lung. A discussion of diagnosis and management is presented at the end. (author)

  20. Pseudoamblyopia in Congenital Cyclotropia

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    Antonio Frattolillo

    2017-01-01

    Full Text Available Purpose. To study the effect of surgery on amblyopia and suppression associated with congenital cyclovertical strabismus. Methods. The fixation pattern was investigated with microperimetry before and soon after surgery in ten consecutive children operated for congenital superior oblique palsy at the S. Martino Hospital, Belluno, Italy, between September 2014 and December 2015. Changes in visual performance in terms of best-corrected visual acuity (BCVA and stereopsis between the day before and one week after surgery were also evaluated. No other amblyopia treatment has been administered during the time study. Results. Surgical correction of the excyclodeviation in congenital SO palsy determined monocular and binocular sensory consequences: monocularly, in the cyclodeviated amblyopic eye, BCVA (0.46–0.03 LogMAR; p<0.0001 and the fixation pattern improved, as demonstrated by microperimetry examination. Binocularly, stereopsis improved or emerged while suppression at the Worth four-dot test disappeared. Conclusions. In the absence of further amblyopic factors such as coexisting constant vertical and/or horizontal deviation and anisometropia, the amblyopia encountered in congenital SO palsy may resolve soon after the surgical alignment. Therefore, it may be considered and defined “pseudoamblyopia.”

  1. Identification of congenital deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    . The study evaluated the assessment procedure of 190 children and adults found to be congenitally deafblind. Among the 190 individuals 76 percent were determined using functional assessment in addition to medical examination. A case example involving a 12-year-old child is also presented to illustrate...

  2. Manual small incision extracapsular cataract surgery in Australia.

    Science.gov (United States)

    van Zyl, Lourens; Kahawita, Shyalle; Goggin, Michael

    2014-11-01

    Examination of the results and describing the technique of manual small incision extracapsular cataract extraction on patients with advanced cataracts in urban Australia. A descriptive case series. Thirty-eight patients at three public hospitals, one tertiary and two secondary ophthalmic units in urban Australia. Forty eyes with dense mature cataracts with hand movement vision or worse underwent a planned manual small incision extracapsular cataract extraction instead of traditional phaco-emulsification. Postoperative visual aquity, surgically induced astigmatism and complications. Seventy-eight per cent of patients had an uncorrected visual acuity of 6/12 or better on the first postoperative day. Eighty-three per cent of patients had a distance corrected visual acuity of 6/9 or better 3 months postoperatively. One case was complicated by a posterior capsule rupture. No cases of endophthalmitis were reported. The summated vector mean of the surgically induced astigmatism was 0.089D at 93°. Manual small incision extracapsular cataract extraction is an efficacious cataract surgery technique with good visual outcome and is a safe alternative to phaco-emulsification in suitable cases in a first-world setting. © 2014 Royal Australian and New Zealand College of Ophthalmologists.

  3. Benign prostatic hyperplasia: clinical treatment can complicate cataract surgery

    Directory of Open Access Journals (Sweden)

    Fernando Facio

    2010-10-01

    Full Text Available PURPOSE: To investigate the effects of alpha-1 adrenergic receptor antagonists for the treatment of benign prostatic hyperplasia (BPH regarding potential risks of complications in the setting of cataract surgery. AIM: To address recommendations, optimal control therapy, voiding symptoms and safety within the setting of cataract surgery. MATERIALS AND METHODS: A comprehensive literature review was performed using MEDLINE with MeSH terms and keywords "benign prostatic hyperplasia", "intraoperative floppy iris syndrome", "adrenergic alpha-antagonist" and "cataract surgery". In addition, reference lists from identified publications were reviewed to identify reports and studies of interest from 2001 to 2009. RESULTS: The first report of intraoperative floppy iris syndrome (IFIS was observed during cataract surgery in patients taking systemic alpha-1 AR antagonists in 2005. It has been most commonly seen related to use of tamsulosin. Changes of medication and washout periods of up to 2 weeks have been attempted to reduce the risk of complications in the setting of cataract surgery. CONCLUSION: Patients under clinical treatment for BPH should be informed about potential risks of this drug class so that it can be discuss with their healthcare providers, in particular urologist and ophthalmologist, prior to cataract surgery.

  4. Risk factors for cataract: A case control study

    Directory of Open Access Journals (Sweden)

    Ughade Suresh

    1998-01-01

    Full Text Available The present study was designed as a hospital-based, group-matched, case-control investigation into the risk factors associated with age-related cataract in central India. The study included 262 cases of age-related cataract and an equal number of controls. A total of 21 risk factors were evaluated: namely, low socioeconomic status (SES, illiteracy, marital status, history of diarrhoea, history of diabetes, glaucoma, use of cholinesterase inhibitors, steroids, spironolactone, nifedipine, analgesics, myopia early in life, renal failure, heavy smoking, heavy alcohol consumption, hypertension, low body mass index (BMI, use of cheaper cooking fuel, working in direct sunlight, family history of cataract, and occupational exposure. In univariate analysis, except marital status, low BMI, renal failure, use of steroids, spironolactone, analgesics, and occupational exposure, all 14 other risk factors were found significantly associated with age-related cataract. Unconditional multiple logistic regression analysis confirmed the significance of low SES, illiteracy, history of diarrhoea, diabetes, glaucoma, myopia, smoking, hypertension and cheap cooking fuel. The etiological role of these risk factors in the outcome of cataract is confirmed by the estimates of attributable risk proportion. The estimates of population attributable risk proportion for these factors highlight the impact of elimination of these risk factors on the reduction of cataract in this population.

  5. Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes.

    Science.gov (United States)

    Van Esch, Hilde; Jansen, Anna; Bauters, Marijke; Froyen, Guy; Fryns, Jean-Pierre

    2007-02-15

    We describe a male patient with a deletion at Xp22, detected by high resolution X-array CGH. The clinical phenotype present in this infant boy, consists of severe encephalopathy, congenital cataracts and tetralogy of Fallot and can be attributed to the deletion of the genes within the interval. Among these deleted genes are the gene for Nance-Horan syndrome and the cyclin-dependent kinase-like 5 gene (CDKL5), responsible for the early seizure variant of Rett syndrome. This is the first description of a male patient with a deletion of these genes, showing the involvement of CDKL5 in severe epileptic encephalopathy in males. Moreover it illustrates the added value of high resolution array-CGH in molecular diagnosis of mental retardation-multiple congenital anomaly cases. (c) 2007 Wiley-Liss, Inc.

  6. Overview of the current attempts toward the medical treatment of cataract

    Energy Technology Data Exchange (ETDEWEB)

    Kador, P.F.

    1983-04-01

    A variety of agents are currently available that claim to either prevent, delay, or reverse cataracts associated with aging (senile cataracts), radiation, or diabetes and galactosemia (sugar cataracts). Senile cataract therapy includes formulation containing inorganic salts, nutritional supplements, natural product extracts, sulfhydryl, and sulfonic acid containing compounds and miscellaneous redox and nonsteroidal anti-inflammatory compounds. Agents associated with the treatment of radiation cataracts include antioxidants and free radial scavengers. Aldose reductase inhibitors have been effective in the prevention of sugar cataracts. A summary of these agents and their potential ocular effects are presented.

  7. Overview of the current attempts toward the medical treatment of cataract

    International Nuclear Information System (INIS)

    Kador, P.F.

    1983-01-01

    A variety of agents are currently available that claim to either prevent, delay, or reverse cataracts associated with aging (senile cataracts), radiation, or diabetes and galactosemia (sugar cataracts). Senile cataract therapy includes formulation containing inorganic salts, nutritional supplements, natural product extracts, sulfhydryl, and sulfonic acid containing compounds and miscellaneous redox and nonsteroidal anti-inflammatory compounds. Agents associated with the treatment of radiation cataracts include antioxidants and free radial scavengers. Aldose reductase inhibitors have been effective in the prevention of sugar cataracts. A summary of these agents and their potential ocular effects are presented

  8. Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus.

    Science.gov (United States)

    Self, James E; Shawkat, Fatima; Malpas, Crispin T; Thomas, N Simon; Harris, Christopher M; Hodgkins, Peter R; Chen, Xiaoli; Trump, Dorothy; Lotery, Andrew J

    2007-09-01

    To perform a genotype-phenotype correlation study in an X-linked congenital idiopathic nystagmus pedigree (pedigree 1) and to assess the allelic variance of the FRMD7 gene in congenital idiopathic nystagmus. Subjects from pedigree 1 underwent detailed clinical examination including nystagmology. Screening of FRMD7 was undertaken in pedigree 1 and in 37 other congenital idiopathic nystagmus probands and controls. Direct sequencing confirmed sequence changes. X-inactivation studies were performed in pedigree 1. The nystagmus phenotype was extremely variable in pedigree 1. We identified 2 FRMD7 mutations. However, 80% of X-linked families and 96% of simplex cases showed no mutations. X-inactivation studies demonstrated no clear causal link between skewing and variable penetrance. We confirm profound phenotypic variation in X-linked congenital idiopathic nystagmus pedigrees. We demonstrate that other congenital nystagmus genes exist besides FRMD7. We show that the role of X inactivation in variable penetrance is unclear in congenital idiopathic nystagmus. Clinical Relevance We demonstrate that phenotypic variation of nystagmus occurs in families with FRMD7 mutations. While FRMD7 mutations may be found in some cases of X-linked congenital idiopathic nystagmus, the diagnostic yield is low. X-inactivation assays are unhelpful as a test for carrier status for this disease.

  9. Clinical evaluation on the coaxial microincision cataract surgery in hard nuclear cataracts

    Directory of Open Access Journals (Sweden)

    Qing-Cheng Shi

    2013-05-01

    Full Text Available AIM: To assess and compare the results of 2.2mm microincision coaxial cataract surgery(MCCSphacoemulsification with the conventional 3.0mm MCCS in hard nuclear cataracts. METHODS: Totally 132 eyes with hard cataract(Ⅳ level and abovewere randomized to two groups: 2.2mm MCCS(group 1:60 eyesand 3.0mm MCCS(group 2:72 eyes. All patients underwent standard phacoemulsification and intraocular lens implantation surgery by one experienced surgeon. The average ultrasound power(AVEwas recorded during the operation. The incidences of capsule rupture and postoperative corneal edema were compared.Visual acuity, surgically induced astigmatism(SIAand the descent rate of endothelial cell density were compared at intervals of 1 day, 1 month and 3 months after surgery. Statistic analysis was taken by Student's t test and Chi square test. RESULTS: There was no significant difference on the incidences of capsule rupture, postoperative corneal edema and AVE(P> 0.05between the two groups(3.3%, 10.0%, 65.09±20.15and(4.2%, 11.1%, 69.13±15.44. One day after the surgery, the 2.2mm MCCS group showed better uncorrected visual acuity as compared to the 3.0mm MCCS group(P < 0.05. There were no significant differences on best-corrected visual acuity on 1 month and 3 months after the surgery. There was no significant difference on the descent rate of endothelial cell density(16.54%±10.20%, 17.69%±10.65%3 months after the surgery. One day, 1 month and 3 months after the surgery, SIA was 0.77±0.31,0.66±0.29, 0.52±0.25D in the 2.2mm MCCS group, and 1.41±0.73,0.98±0.61D,0.82±0.35D in the 3.0mm MCCS group, respectively. The differences were statistically significant. CONCLUSION: The operative safety of the 2.2mm MCCS group were the same as 3.0mm MCCS group with the hard nuclear cataracts. The 2.2mm MCCS phacoemulsification could significantly reduce SIA and get better earlier visual rehabilitation.

  10. The anti-cataract molecular mechanism study in selenium cataract rats for baicalin ophthalmic nanoparticles

    Directory of Open Access Journals (Sweden)

    Li N

    2018-05-01

    Full Text Available Nan Li,1–3,* Zhenzhen Han,1,2,4,* Lin Li,1,2 Bing Zhang,1–3 Zhidong Liu,1–3 Jiawei Li1,2 1Tianjin State Key Laboratory of Modern Chinese Medicine, Tianjin University of Traditional Chinese Medicine, Tianjin, People’s Republic of China; 2Institute of Traditional Chinese Medicine,Tianjin University of Traditional Chinese Medicine, Tianjin, People’s Republic of China; 3Engineering Research Center of Modern Chinese Medicine Discovery and Preparation Technique, Ministry of Education, Tianjin University of Traditional Chinese Medicine, Tianjin, People’s Republic of China; 4Baokang Hospital, Tianjin University of Traditional Chinese Medicine, Tianjin, People’s Republic of China *These authors contributed equally to this work Purpose: The objective of this study was to investigate the effects of the solid lipid nanoparticles of baicalin (BA-SLNs on an experimental cataract model and explore the molecular mechanism combined with bioinformatics analysis.Materials and methods: The transparency of lens was observed daily by slit-lamp and photography. Lenticular opacity was graded. Two-dimensional gel electrophoresis (2-DE was employed to analyze the differential protein expression modes in each group. Proteins of interest were subjected to protein identification by nano-liquid chromatography tandem mass spectrometry (LC–MS/MS. Bioinformatics analysis was performed using the Ingenuity Pathway Analysis (IPA online software to comprehend the biological implications of the proteins identified by proteomics.Results: At the end of the sodium selenite-induced cataract progression, almost all lenses from the model group developed partial nuclear opacity; however, all lenses were clear and normal in the blank group. There was no significant difference between the BA-SLNs group and the blank group. Many protein spots were differently expressed in 2-DE patterns of total proteins of lenses from each group, and 65 highly different protein spots were

  11. Visual field changes after cataract extraction: the AGIS experience.

    Science.gov (United States)

    Koucheki, Behrooz; Nouri-Mahdavi, Kouros; Patel, Gitane; Gaasterland, Douglas; Caprioli, Joseph

    2004-12-01

    To test the hypothesis that cataract extraction in glaucomatous eyes improves overall sensitivity of visual function without affecting the size or depth of glaucomatous scotomas. Experimental study with no control group. One hundred fifty-eight eyes (of 140 patients) from the Advanced Glaucoma Intervention Study with at least two reliable visual fields within a year both before and after cataract surgery were included. Average mean deviation (MD), pattern standard deviation (PSD), and corrected pattern standard deviation (CPSD) were compared before and after cataract extraction. To evaluate changes in scotoma size, the number of abnormal points (P < .05) on the pattern deviation plot was compared before and after surgery. We described an index ("scotoma depth index") to investigate changes of scotoma depth after surgery. Mean values for MD, PSD, and CPSD were -13.2, 6.4, and 5.9 dB before and -11.9, 6.8, and 6.2 dB after cataract surgery (P < or = .001 for all comparisons). Mean (+/- SD) number of abnormal points on pattern deviation plot was 26.7 +/- 9.4 and 27.5 +/- 9.0 before and after cataract surgery, respectively (P = .02). Scotoma depth index did not change after cataract extraction (-19.3 vs -19.2 dB, P = .90). Cataract extraction caused generalized improvement of the visual field, which was most marked in eyes with less advanced glaucomatous damage. Although the enlargement of scotomas was statistically significant, it was not clinically meaningful. No improvement of sensitivity was observed in the deepest part of the scotomas.

  12. Congenital imprinting disorders

    DEFF Research Database (Denmark)

    Eggermann, Thomas; Netchine, Irène; Temple, I Karen

    2015-01-01

    Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the genomic sequence of imprinted genes. Each ID is characterised...... by specific clinical features, and, as each appeared to be associated with specific imprinting defects, they have been widely regarded as separate entities. However, they share clinical characteristics and can show overlapping molecular alterations. Nevertheless, IDs are usually studied separately despite...... EUCID.net (European network of congenital imprinting disorders) now aims to promote better clinical care and scientific investigation of imprinting disorders by establishing a concerted multidisciplinary alliance of clinicians, researchers, patients and families. By encompassing all IDs and establishing...

  13. Congenital intestinal lymphangiectasia

    Directory of Open Access Journals (Sweden)

    Popović Dušan Đ.

    2011-01-01

    Full Text Available Background. Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortous, dilated lymphatic vessels in the intestinal wall and mesenterium are typical features of the disease. Clinical manifestations include malabsorption, diarrhea, steatorrhea, edema and effusions. Specific diet and medication are required for disease control. Case report. A 19-year old male patient was hospitalized due to diarrhea, abdominal swelling, weariness and fatigue. Physical examination revealed growth impairment, ascites, and lymphedema of the right hand and forearm. Laboratory assessment indicated iron deficiency anaemia, lymphopenia, malabsorption, inflammatory syndrome, and urinary infection. Enteroscopy and video capsule endoscopy demonstrated dilated lymphatic vessels in the small intestine. The diagnosis was confirmed by intestinal biopsy. The patient was put on high-protein diet containing medium-chain fatty acids, somatotropin and suportive therapy. Conclusion. Congenital intestinal lymphangiectasia is a rare disease, usually diagnosed in childhood. Early recognition of the disease and adequate treatment can prevent development of various complications.

  14. [Congenital intestinal lymphangiectasia].

    Science.gov (United States)

    Popović, Dugan D j; Spuran, Milan; Alempijević, Tamara; Krstić, Miodrag; Djuranović, Srdjan; Kovacević, Nada; Damnjanović, Svetozar; Micev, Marjan

    2011-03-01

    Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortuous, dilated lymphatic vessels in the intestinal wall and mesenterium are typical features of the disease. Clinical manifestations include malabsorption, diarrhea, steatorrhea, edema and effusions. Specific diet and medication are required for disease control. A 19-year old male patient was hospitalized due to diarrhea, abdominal swelling, weariness and fatigue. Physical examination revealed growth impairment, ascites, and lymphedema of the right hand and forearm. Laboratory assessment indicated iron deficiency anaemia, lymphopenia, malabsorption, inflammatory syndrome, and urinary infection. Enteroscopy and video capsule endoscopy demonstrated dilated lymphatic vessels in the small intestine. The diagnosis was confirmed by intestinal biopsy. The patient was put on high-protein diet containing medium-chain fatty acids, somatotropin and supportive therapy. Congenital intestinal lymphangiectasia is a rare disease, usually diagnosed in childhood. Early recognition of the disease and adequate treatment can prevent development of various complications.

  15. Congenital diaphramatic hernia

    Energy Technology Data Exchange (ETDEWEB)

    Kline-Fath, Beth M. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Fetal Care Center of Cincinnati, Cincinnati, OH (United States); Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States)

    2012-01-15

    Congenital diaphragmatic hernia, despite advances in therapy, remains a complex condition with significant morbidity and mortality. The etiology of the disorder is still incompletely understood, though the pulmonary hypoplasia and pulmonary hypertension that develop secondarily must be overcome to improve survival. Prenatal US and fetal MRI have helped in the development of a greater understanding of this disease. Also with these modalities, measurement techniques have been developed in an attempt to provide prognosticators for the development of pulmonary hypoplasia and pulmonary hypertension. There is a broad range of approaches for performing these measurements, and variability among imaging centers is noted. Despite inconsistent approaches, these techniques have become the foundation for counseling and prenatal and postnatal therapy. It is hoped that with further research with prenatal US and fetal MRI and the development of innovative medical and surgical therapies that the morbidity and mortality of children with congenital diaphragmatic hernias can be significantly reduced. (orig.)

  16. Congenital Hepatic Cyst

    Directory of Open Access Journals (Sweden)

    Aldo Recinos

    2017-04-01

    Full Text Available Congenital hepatic cyst is a rare and nonsymptomatic condition in infants and children. Its incidence is 2.5% in the postnatal life with a much lower incidence in the prenatal period. Incidental finding on antenatal imaging is the most common presentation. We present a case of a newborn in whom fetal ultrasound detected a cyst within the fetal liver. Postnatal imaging revealed a liver cyst in the right lobe of the liver, with no other intrahepatic structure affected. Liver function tests were abnormal, but the patient was asymptomatic. Posterior follow-up imaging showed a minor decrease in size. Management of congenital hepatic cyst is usually conservative, done with periodic ultrasound monitoring. However, surgical treatment is the mainstay of treatment when hydrops, progressive enlargement, hemorrhage, torsion, or compression of adjacent structures occurs. Malignant transformation can occur, but it is extremely rare. Partial or total removal of the cyst is the preferred treatment in neonates with a large lesion.

  17. Congenital diaphramatic hernia

    International Nuclear Information System (INIS)

    Kline-Fath, Beth M.

    2012-01-01

    Congenital diaphragmatic hernia, despite advances in therapy, remains a complex condition with significant morbidity and mortality. The etiology of the disorder is still incompletely understood, though the pulmonary hypoplasia and pulmonary hypertension that develop secondarily must be overcome to improve survival. Prenatal US and fetal MRI have helped in the development of a greater understanding of this disease. Also with these modalities, measurement techniques have been developed in an attempt to provide prognosticators for the development of pulmonary hypoplasia and pulmonary hypertension. There is a broad range of approaches for performing these measurements, and variability among imaging centers is noted. Despite inconsistent approaches, these techniques have become the foundation for counseling and prenatal and postnatal therapy. It is hoped that with further research with prenatal US and fetal MRI and the development of innovative medical and surgical therapies that the morbidity and mortality of children with congenital diaphragmatic hernias can be significantly reduced. (orig.)

  18. Characterizing Congenital Amusia

    OpenAIRE

    Stewart, Lauren

    2011-01-01

    The ability to make sense of the music in our environment involves sophisticated cognitive mechanisms that, for most people, are acquired effortlessly and in early life. A special population of individuals, with a disorder termed congenital amusia, report lifelong difficulties in this regard. Exploring the nature of this developmental disorder provides a window onto the cognitive architecture of typical musical processing, as well as allowing a study of the relationship between processing of ...

  19. The heart: Congenital disease

    International Nuclear Information System (INIS)

    Higgins, C.B.

    1987-01-01

    The most important diagnostic requirement in congenital heart disease (CHD) is definition of cardiovascular pathoanatomy. The considerable success in operative correction of even the most complex anomalies in recent years compels ever increasing precision in preoperative demonstration of these anomalies. Early experience with magnetic resonance imaging (MRI) at several institutions indicated that this modality is an effective noninvasive technique for evaluation of CHD. Indeed, MRI seems to have some advantage over other techniques, including angiography, for definitive diagnosis of congenital anomalies of the heart and great arteries and veins. The absence of ionizing radiation and contrast medium in MRI is an additional advantage; the former is particularly important for children, who, up to this time, have frequently been subjected to enormous radiation burdens from multiple cineangiograms during initial diagnosis and follow-up. This chapter describes the MRI appearance of cardiovascular anatomy im the segmental fashion proposed for analysis of complex CHD. Likewise, MRI demonstration of congenital cardiovascular lesions is organized into abnormalities situated at the four segmental cardiovascular levels: great vessels, atria, ventricles, and visceroatrial relationship. The role of MRI in evaluation of complex ventricular anomalies such as single ventricle and thoracic aortic abnormalities is specifically described

  20. [Beta-lactamic antibiotics allergy in cataract surgery. Prevalence and preoperative characteristics of allergic patients].

    Science.gov (United States)

    Fernández-Rubio, M E; Cuesta-Rodríguez, T; Urcelay-Segura, J L; Cortés-Valdés, C

    2014-03-01

    To describe the proportion of patients allergic to β-lactam antibiotics and the prevalence of preoperative conjunctival bacteria among those undergoing cataract surgery in our area. Retrospective cross-sectional study of prevalence of β-lactam allergic patients consecutively scheduled for cataract surgery from 11 July 2005 to November 2012. For studying the prevalence of conjunctival bacteria and clinical characteristics in the patients' preoperative examination, those under 18 years and those with cataract surgery combined with other eye surgeries were excluded. Data from the first preoperative examination of the remaining patients were selected. Clinical data were extracted from the database generated in the evaluation made for anesthetic purposes, and the microbiological data from the laboratory database. Both bases were linked through a patient history code. A comparison was made between the prevalence of conjunctival bacteria and clinical characteristics in allergic and non-allergic patients. From 12,409 adults selected for the bacteriological study, 862 (6.96%) were allergic to β-lactams, their mean age (74.45 years) was higher than that of the non-allergic (P=.005). The proportion of women (71.4%) in the allergic patient group was much higher than that of men. The prevalence of pathogenic bacteria (especially Bacillus spp and Pseudomonas aeruginosa), lung disease and heart failure, was higher in allergic patients. The prevalence of allergy to β-lactams in this study is within the range described in other populations. The higher prevalence of pathogenic bacteria and the predominance of women in those allergic to β-lactams are useful data to guide their surgical prophylaxis. Copyright © 2013 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.

  1. Radiology of congenital heart disease

    International Nuclear Information System (INIS)

    Amplatz, K.

    1986-01-01

    This is a text on the radiologic diagnosis of congenital heart disease and its clinical manifestations. The main thrust of the book is the logical approach which allows an understanding of the complex theory of congenital heart disease. The atlas gives a concise overview of the entire field of congenital heart disease. Emphasis is placed on the understanding of the pathophysiology and its clinical and radiological consequences. Surgical treatment is included since it provides a different viewpoint of the anatomy

  2. NASA study of cataract in astronauts (NASCA). Report 1: Cross-sectional study of the relationship of exposure to space radiation and risk of lens opacity.

    Science.gov (United States)

    Chylack, Leo T; Peterson, Leif E; Feiveson, Alan H; Wear, Mary L; Manuel, F Keith; Tung, William H; Hardy, Dale S; Marak, Lisa J; Cucinotta, Francis A

    2009-07-01

    The NASA Study of Cataract in Astronauts (NASCA) is a 5-year longitudinal study of the effect of space radiation exposure on the severity/progression of nuclear, cortical and posterior subcapsular (PSC) lens opacities. Here we report on baseline data that will be used over the course of the longitudinal study. Participants include 171 consenting astronauts who flew at least one mission in space and a comparison group made up of three components: (a) 53 astronauts who had not flown in space, (b) 95 military aircrew personnel, and (c) 99 non-aircrew ground-based comparison subjects. Continuous measures of nuclear, cortical and PSC lens opacities were derived from Nidek EAS 1000 digitized images. Age, demographics, general health, nutritional intake and solar ocular exposure were measured at baseline. Astronauts who flew at least one mission were matched to comparison subjects using propensity scores based on demographic characteristics and medical history stratified by gender and smoking (ever/never). The cross-sectional data for matched subjects were analyzed by fitting customized non-normal regression models to examine the effect of space radiation on each measure of opacity. The variability and median of cortical cataracts were significantly higher for exposed astronauts than for nonexposed astronauts and comparison subjects with similar ages (P=0.015). Galactic cosmic space radiation (GCR) may be linked to increased PSC area (P=0.056) and the number of PSC centers (P=0.095). Within the astronaut group, PSC size was greater in subjects with higher space radiation doses (P=0.016). No association was found between space radiation and nuclear cataracts. Cross-sectional data analysis revealed a small deleterious effect of space radiation for cortical cataracts and possibly for PSC cataracts. These results suggest increased cataract risks at smaller radiation doses than have been reported previously.

  3. Complications of cataract surgery in eyes filled with silicone oil.

    Science.gov (United States)

    Kanclerz, Piotr; Grzybowski, Andrzej; Schwartz, Stephen G; Lipowski, Paweł

    2018-03-01

    The aim of the study was to evaluate complications of cataract surgery in eyes filled with silicone oil. This retrospective, noncomparative, consecutive case series analyzed medical files of patients with eyes filled with silicone oil undergoing cataract surgery. Phacoemulsification with posterior chamber intraocular lens implantation was conducted with or without concurrent silicone oil removal. In this study, 121 eyes of 120 patients were included. In 32 eyes (26.4%) with evident silicone oil microemulsification or silicone oil-associated open-angle glaucoma, silicone oil was removed prior to phacoemulsification through a pars plana incision and no cases of posterior capsular rupture occurred during the subsequent cataract surgery. In the remaining 89 eyes, phacoemulsification was performed with silicone oil in the vitreous cavity. In these eyes, the rate of posterior capsular rupture was 9/89 (10.1%) and the rate of silicone oil migration into the anterior chamber through an apparently intact posterior capsule was 5/89 (5.6%). In 94 eyes (77.7%), an intraocular lens was inserted into the capsular bag, in 3 eyes (2.5%) into the sulcus, and in 1 eye (0.8%) a transscleral suturing was performed. In this series, complications related to the silicone oil were not uncommon during cataract surgery. In the majority of patients without evident silicone oil microemulsification or silicone oil-associated open-angle glaucoma, cataract surgery and posterior chamber intraocular lens implantation were performed while leaving the silicone oil in place.

  4. Cataract surgery audit at an Australian urban teaching hospital.

    Science.gov (United States)

    Kahawita, Shyalle K; Goggin, Michael

    2015-08-01

    To provide local data on visual acuity and surgical outcomes for cataract surgery performed in an Australian teaching hospital. Continuous audit over 7 years in a public teaching hospital. A total of 3740 eyes had cataract surgery performed at The Queen Elizabeth Hospital, South Australia, from May 2006 to September 2013. Visual acuity and complication rates were recorded for cataract surgery cases operated on between May 2006 and September 2013 on a digital database with data entry contemporaneous with final follow-up. Visual acuity and surgical complications. Of the patients, 91.4% achieved postoperative best-measured vision better than preoperative best-measured vision. The rate of posterior capsular tear was 2.59%, endophthalmitis was 0.11% and the overall complication rate was 11.7%. This audit is the first to document modern cataract surgery, overwhelmingly dominated by phacoemulsification in an Australian population and can be used to benchmark cataract surgery outcome in an urban Australian population. © 2015 Royal Australian and New Zealand College of Ophthalmologists.

  5. Use of the Delphi process in paediatric cataract management.

    Science.gov (United States)

    Serafino, Massimiliano; Trivedi, Rupal H; Levin, Alex V; Wilson, M Edward; Nucci, Paolo; Lambert, Scott R; Nischal, Ken K; Plager, David A; Bremond-Gignac, Dominique; Kekunnaya, Ramesh; Nishina, Sachiko; Tehrani, Nasrin N; Ventura, Marcelo C

    2016-05-01

    To identify areas of consensus and disagreement in the management of paediatric cataract using a modified Delphi approach among individuals recognised for publishing in this field. A modified Delphi method. International paediatric cataract experts with a publishing record in paediatric cataract management. The process consisted of three rounds of anonymous electronic questionnaires followed by a face-to-face meeting, followed by a fourth anonymous electronic questionnaire. The executive committee created questions to be used for the electronic questionnaires. Questions were designed to have unit-based, multiple choice or true-false answers. The questionnaire included issues related to the preoperative, intraoperative and postoperative management of paediatric cataract. Consensus based on 85% of panellists being in agreement for electronic questionnaires or 80% for the face-to-face meeting, and near consensus based on 70%. Sixteen of 22 invited paediatric cataract surgeons agreed to participate. We arrived at consensus or near consensus for 85/108 (78.7%) questions and non-consensus for the remaining 23 (21.3%) questions. Those questions where consensus was not reached highlight areas of either poor evidence or contradicting evidence, and may help investigators identify possible research questions. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  6. Impact of cataract surgery in reducing visual impairment: a review.

    Science.gov (United States)

    Khandekar, Rajiv; Sudhan, Anand; Jain, B K; Deshpande, Madan; Dole, Kuldeep; Shah, Mahul; Shah, Shreya

    2015-01-01

    The aim was to assess the impact of cataract surgeries in reducing visual disabilities and factors influencing it at three institutes of India. A retrospective chart review was performed in 2013. Data of 4 years were collected on gender, age, residence, presenting a vision in each eye, eye that underwent surgery, type of surgery and the amount the patient paid out of pocket for surgery. Visual impairment was categorized as; absolute blindness (no perception of light); blind (visual impairment (SVI) (visual impairment (6/18-6/60) and; normal vision (≥6/12). Statistically analysis was performed to evaluate the association between visual disabilities and demographics or other possible barriers. The trend of visual impairment over time was also evaluated. We compared the data of 2011 to data available about cataract cases from institutions between 2002 and 2009. There were 108,238 cataract cases (50.6% were female) that underwent cataract surgery at the three institutions. In 2011, 71,615 (66.2%) cases underwent surgery. There were 45,336 (41.9%) with presenting vision visual disability. The goal of improving vision related quality of life for cataract patients during the early stages of visual impairment that is common in industrialized countries seems to be non-attainable in the rural India.

  7. Nanotechnology for the Prevention and Treatment of Cataract.

    Science.gov (United States)

    Cetinel, Sibel; Montemagno, Carlo

    2015-01-01

    The purpose of this article was to review recent advances in the applications of nanotechnology in cataract treatment and prevention strategies. A literature review on the use of nanotechnology for the prevention and treatment of cataract was done. Research articles about nanotechnology-based treatments and prevention technologies for cataract were searched on Web of Science, and the most recent advances were reported. Nonsteroid anti-inflammatory drugs, natural antioxidants, biologic and chemical chaperones, and chaperones such as molecules have found great application in preventing and treating cataracts. Current scientific research on new treatment strategies, which focuses on the biochemical basis of the disease, will likely result in new anticataract agents. However, none of the drug formulations will be approved for use unless efficient delivery is promised. Nanoparticle engineering together with biomimetic strategies enable the development of next-generation, more efficient, less complex, and personalized treatments. The only currently available treatment for cataracts, surgical replacement of the opacified lens, is not an easily accessible option in developing countries. New treatment strategies based on topical drugs would enable treatment to reach massive populations facing the threat of blindness and more effectively deal with the postsurgical complications. Nanotechnology plays a key role in improving drug delivery systems with enhanced controlled release, targeted delivery, and bioavailability to overcome diffusion limitations in the eye.

  8. Immediately sequential bilateral cataract surgery: advantages and disadvantages.

    Science.gov (United States)

    Singh, Ranjodh; Dohlman, Thomas H; Sun, Grace

    2017-01-01

    The number of cataract surgeries performed globally will continue to rise to meet the needs of an aging population. This increased demand will require healthcare systems and providers to find new surgical efficiencies while maintaining excellent surgical outcomes. Immediately sequential bilateral cataract surgery (ISBCS) has been proposed as a solution and is increasingly being performed worldwide. The purpose of this review is to discuss the advantages and disadvantages of ISBCS. When appropriate patient selection occurs and guidelines are followed, ISBCS is comparable with delayed sequential bilateral cataract surgery in long-term patient satisfaction, visual acuity and complication rates. In addition, the risk of bilateral postoperative endophthalmitis and concerns of poorer refractive outcomes have not been supported by the literature. ISBCS is cost-effective for the patient, healthcare payors and society, but current reimbursement models in many countries create significant financial barriers for facilities and surgeons. As demand for cataract surgery rises worldwide, ISBCS will become increasingly important as an alternative to delayed sequential bilateral cataract surgery. Advantages include potentially decreased wait times for surgery, patient convenience and cost savings for healthcare payors. Although they are comparable in visual acuity and complication rates, hurdles that prevent wide adoption include liability concerns as ISBCS is not an established standard of care, economic constraints for facilities and surgeons and inability to fine-tune intraocular lens selection in the second eye. Given these considerations, an open discussion regarding the advantages and disadvantages of ISBCS is important for appropriate patient selection.

  9. Reprint of: Relationship between cataract severity and socioeconomic status.

    Science.gov (United States)

    Wesolosky, Jason D; Rudnisky, Christopher J

    2015-06-01

    To determine the relationship between cataract severity and socioeconomic status (SES). Retrospective, observational case series. A total of 1350 eyes underwent phacoemulsification cataract extraction by a single surgeon using an Alcon Infiniti system. Cataract severity was measured using phaco time in seconds. SES was measured using area-level aggregate census data: median income, education, proportion of common-law couples, and employment rate. Preoperative best corrected visual acuity was obtained and converted to logarithm of the minimum angle of resolution values. For patients undergoing bilateral surgery, the generalized estimating equation was used to account for the correlation between eyes. Univariate analyses were performed using simple regression, and multivariate analyses were performed to account for variables with significant relationships (p < 0.05) on univariate testing. Sensitivity analyses were performed to assess the effect of including patient age in the controlled analyses. Multivariate analyses demonstrated that cataracts were more severe when the median income was lower (p = 0.001) and the proportion of common-law couples living in a patient's community (p = 0.012) and the unemployment rate (p = 0.002) were higher. These associations persisted even when controlling for patient age. Patients of lower SES have more severe cataracts. Copyright © 2015. Published by Elsevier Inc.

  10. Laser-assisted cataract surgery: benefits and barriers.

    Science.gov (United States)

    Hatch, Kathryn M; Talamo, Jonathan H

    2014-01-01

    The use of the femtosecond laser (FSL) in cataract surgery may represent the largest advancement in the field since the inception of phacoemulsification. The goal of this review is to outline the benefits of and barriers to this technology. There are several significant potential benefits of the FSL in cataract surgery over conventional manual cataract surgery: precise capsulotomy formation, clear corneal and limbal relaxing incision construction, lens fragmentation, and lens softening. Evidence suggests that refractive benefits include more precise effective lens position as well as reduced effective phacoemulsification time with the use of FSL compared with manual surgery. Patients with conditions such as Fuchs' endothelial dystrophy, pseudoexfoliation, history of trauma, or brunescent cataracts may particularly benefit from this technology. There are significant financial and logistical issues to consider prior to the purchase of a FSL, including the cost of the laser, and charges to patients, and how the laser affects the patient flow in the operating room. The FSL may significantly change the current approach to cataract surgery.

  11. Cataract surgery in patients with nanophthalmos: results and complications.

    Science.gov (United States)

    Wu, Wayne; Dawson, Daniel G; Sugar, Alan; Elner, Susan G; Meyer, Kathy A; McKey, Jesse B; Moroi, Sayoko E

    2004-03-01

    To evaluate the results and complications of cataract surgery in patients with nanophthalmos. University hospital practice. The records of consecutive patients with nanophthalmos who had cataract surgery from 1978 through 2002 were reviewed for ocular diagnoses, corneal diameter, keratometry, axial length, retinal-choroidal-scleral thickness determined by echography, ocular surgeries, visual acuity, and complications. Eight patients (6 women, 2 men) with a mean age of 59 years were reviewed. Four patients were not previously diagnosed with nanophthalmos; increased retinal-choroidal-scleral thickness (mean 2.41 mm) confirmed the diagnosis. Twelve eyes had cataract extraction with posterior chamber intraocular lens (IOL) implantation, 11 by phacoemulsification and 1 by extracapsular cataract extraction, and 4 eyes had lamellar scleral resections. Additional surgeries included glaucoma laser treatment (8 eyes), cyclocryotherapy (2 eyes), trabeculectomy with scleral resection (1 eye), trabeculectomy combined with phacoemulsification (1 eye), and neodymium:YAG laser capsulotomy (4 eyes). No eye lost vision; however, complications included severe iritis, broken IOL haptic with vitreous loss, posterior capsule opacity, choroidal hemorrhage, phthisis, and aqueous misdirection. Results indicate that echography should be used to assess retinal-choroidal-scleral thickness in eyes that are hyperopic and at risk for narrow-angle glaucoma. Thickening may confirm the diagnosis of nanophthalmos and allow careful preoperative assessment and appropriate operative procedures in these high-risk eyes. With advances in cataract, glaucoma, and uveal effusion treatments, surgical results in patients with nanophthalmos are improving.

  12. Early detection of congenital syphilis

    Directory of Open Access Journals (Sweden)

    Nagalakshmi Chowdhary

    2014-01-01

    Full Text Available Late congenital syphilis is a very rare clinical entity, and its early diagnosis and treatment is essential. Dental findings often provide valuable evidence for the diagnosis of late congenital syphilis. It occurs due to the transmission of the disease from an infected mother to her fetus through placenta. This long forgotten disease continues to effect pregnant women resulting in perinatal morbidity and mortality. Congenital syphilis is a preventable disease, and its presence reflects a failure of prenatal care delivery system, as well as syphilis control programs. We are reporting a case of late congenital syphilis with only Hutchinson′s teeth.

  13. Genetics Home Reference: congenital mirror movement disorder

    Science.gov (United States)

    ... Health Conditions Congenital mirror movement disorder Congenital mirror movement disorder Printable PDF Open All Close All Enable ... view the expand/collapse boxes. Description Congenital mirror movement disorder is a condition in which intentional movements ...

  14. Fitness costs of increased cataract frequency and cumulative radiation dose in natural mammalian populations from Chernobyl

    OpenAIRE

    Lehmann, Philipp; Boraty?ski, Zbyszek; Mappes, Tapio; Mousseau, Timothy A.; M?ller, Anders P.

    2016-01-01

    A cataract is a clouding of the lens that reduces light transmission to the retina, and it decreases the visual acuity of the bearer. The prevalence of cataracts in natural populations of mammals, and their potential ecological significance, is poorly known. Cataracts have been reported to arise from high levels of oxidative stress and a major cause of oxidative stress is ionizing radiation. We investigated whether elevated frequencies of cataracts are found in eyes of bank voles Myodes glare...

  15. Etiopathogenesis of presenile cataracts in Central Kerala: A cross-sectional observational study

    Directory of Open Access Journals (Sweden)

    R Jyothi

    2017-01-01

    Conclusion: Apart from DM and atopy, the place of residence and occupation (and thus possibly exposure to ultraviolet radiations is also associated with the development of presenile cataract. Posterior subcapsular cataract is the most common type of presenile cataract in Central Kerala.

  16. Patient's experiences with quality of hospital care: the Dutch Consumer Quality Index Cataract Questionnaire.

    NARCIS (Netherlands)

    Stubbe, J.H.; Brouwer, W.; Delnoij, D.M.J.

    2007-01-01

    BACKGROUND: Patients' feedback is of great importance in health care policy decisions. The Consumer Quality Index Cataract Questionnaire (CQI Cataract) was used to measure patients' experiences with quality of care after a cataract operation. This study aims to evaluate the reliability and the

  17. Cataract surgery in juvenile xanthogranuloma: Case report and a brief review of literature

    Directory of Open Access Journals (Sweden)

    R Muralidhar

    2013-01-01

    Full Text Available There is limited literature on the management of cataracts in juvenile xanthogranuloma (JXG. A 2-month-old girl presented to us with hyphema, secondary glaucoma OU and skin nodules suggestive of JXG. She developed bilateral cataracts during her follow-up and was treated successfully with cataract surgery and aphakic rehabilitation.

  18. Incidence and risk factors for chronic uveitis following cataract surgery.

    Science.gov (United States)

    Patel, Chirag; Kim, Stephen Jae; Chomsky, Amy; Saboori, Mazeyar

    2013-04-01

    To determine the incidence of and associated risk factors for uveitis after cataract surgery. A total of 17,757 eyes were identified and records of 42 eyes that developed uveitis and 2320 eyes that did not were reviewed. Postsurgical uveitis was defined as persistent inflammation for ≥ 6 months after surgery. Forty-two eyes of 35 patients developed uveitis (0.24%). Eleven patients underwent consecutive cataract surgery but developed unilateral uveitis, and intraoperative complications occurred in 55% of uveitic eyes compared to 0% in fellow eyes (p < 0.05). Median duration of inflammation was 8 and 11.5 months in eyes with and without vitrectomy (p < 0.05). Intraocular complications occurred in 44 and 8.3% of eyes that did and did not develop uveitis, respectively (p = 0.01). Postsurgical uveitis developed after approximately 1 in 400 cataract surgeries and occurred more frequently in eyes experiencing intraoperative complications.

  19. One-year outcomes of AquaLase cataract surgery.

    Science.gov (United States)

    Yoo, Sonia H; Bhatt, Anand B

    2007-01-01

    The authors report surgical experience and clinical outcomes up to 1 year postoperatively in patients who underwent cataract surgery with the AquaLase liquefaction device (Alcon Laboratories, Fort Worth, TX). The device is a handpiece option for use with Alcon's Infiniti Vision System that uses heated balanced saline solution micropulses to liquefy lenticular material. Twenty-seven eyes of 23 patients underwent cataract extraction with the use of the AquaLase liquefaction device. The average age of participants was 68 years, and the average nuclear sclerotic grade was 1.96 on a 4-point scale. Outcomes were judged by metrics such as visual acuity, inflammation, endothelial cell count, and postoperative posterior capsule opacification. At 30 days postoperatively, 78% of eyes had a best-corrected visual acuity of 20/20. Visual acuity was 20/25 or better 1 year postoperatively in 88% of patients without complications except conversion to ultrasound phacoemulsification for two dense cataracts.

  20. Pros and cons of immediately sequential bilateral cataract surgery (ISBCS).

    Science.gov (United States)

    Grzybowski, Andrzej; Wasinska-Borowiec, Weronika; Claoué, Charles

    2016-01-01

    Immediately sequential bilateral cataract surgery (ISBCS) is currently a "hot topic" in ophthalmology. There are well-documented advantages in terms of quicker visual rehabilitation and reduced costs. The risk of bilateral simultaneous endophthalmitis and bilateral blindness is now recognized to be minuscule with the advent of intracameral antibiotics and modern management of endophthalmitis. Refractive surprises are rare for normal eyes and with the use of optical biometry. Where a general anesthetic is indicated for cataract surgery, the risk of death from a second anesthetic is much higher than the risk of blindness. A widely recognized protocol from the International Society of Bilateral Cataract Surgeons needs to be adhered to if surgeons wish to start practicing ISBCS.

  1. Visual outcome of traumatic cataract surgery in Ibadan, Nigeria.

    Science.gov (United States)

    Bekibele, C O; Fasina, O

    2008-12-01

    To review the visual outcome of traumatic cataracts operated at the University College Hospital, Ibadan with the view to making recommendations for improved outcome. All patients operated at the University College Hospital Ibadan, Nigeria between May 1999 and April 2004 with traumatic cataract were reviewed retrospectively to determine visual outcome and main causes of poor visual outcome notes of patients 32 patients, age range 2 to 71 years, mean age 25.6 +/- SD 16.1 years were reviewed. 22 (68.8%) were males while 10 (31.2%) were females. Causes of traumatic cataract included wood/stick splinters in 7 (21.9%), cane/whiplash injury 6 (18.8%), and propelled missile injuries, 5 (15.6%). Less important cause of injuries were gun shot, road traffic accident and fist injuries. 11 (35.6%) of the patients had best corrected post operative visual acuity of >6/18, 10 (32.2%) noted.

  2. Outcomes of Surgery for Posterior Polar Cataract Using Torsional Ultrasound

    Directory of Open Access Journals (Sweden)

    Selçuk Sızmaz

    2013-10-01

    Full Text Available Purpose: The aim of this study is to report outcomes of surgery for posterior polar cataract using torsional ultrasound. Material and Method: Medical records of 26 eyes of 21 consecutive patients with posterior polar cataract who had cataract surgery using the torsional phacoemulsification were evaluated retrospectively. The surgical procedure used, phacoemulsification parameters, intraoperative complications, and postoperative visual outcome were recorded. Results: Of the 26 eyes, 24 (92.3% had small to medium posterior polar opacity. Two eyes had large opacity. All surgeries were performed using the torsional handpiece. Posterior capsule rupture occurred in 4 (15.3% eyes. The mean visual acuity improved significantly after surgery (p<0.001. The postoperative visual acuity was worse than 20/20 in 5 eyes. The cause of the low acuity was amblyopia. Discussion: Successful surgical results and good visual outcome can be achieved with phacoemulsification using the torsional handpiece. (Turk J Ophthalmol 2013; 43: 345-7

  3. Femtosecond laser cataract surgery: technology and clinical practice.

    Science.gov (United States)

    Roberts, Timothy V; Lawless, Michael; Chan, Colin Ck; Jacobs, Mark; Ng, David; Bali, Shveta J; Hodge, Chris; Sutton, Gerard

    2013-03-01

    The recent introduction of femtosecond lasers to cataract surgery has generated much interest among ophthalmologists around the world. Laser cataract surgery integrates high-resolution anterior segment imaging systems with a femtosecond laser, allowing key steps of the procedure, including the primary and side-port corneal incisions, the anterior capsulotomy and fragmentation of the lens nucleus, to be performed with computer-guided laser precision. There is emerging evidence of reduced phacoemulsification time, better wound architecture and a more stable refractive result with femtosecond cataract surgery, as well as reports documenting an initial learning curve. This article will review the current state of technology and discuss our clinical experience. © 2012 The Authors. Clinical and Experimental Ophthalmology © 2012 Royal Australian and New Zealand College of Ophthalmologists.

  4. Cataracts in A-bomb survivors

    International Nuclear Information System (INIS)

    Neriishi, Kazuo

    2013-01-01

    Described is the process leading to the revision of ICRP recommendation for the threshold dose of cataracts (CA) to be 0.5 Sv (2011). The threshold for CA, posterior subcapsular (ps), was defined to be 2 Gy. However, recent investigations for 837 A-bomb survivors by slit lamp test revealed that, in addition to the CA above, the cortical CA was found to have also responded to the dose. The reanalysis afterward of their stored images showed for the estimated threshold of cortical CA to be 0.6 Sv, and significant dose response with Odds ratio (OR)/Sv of 1.30. For ps-CA, the threshold to be 0.7 Sv and OR/Sv, 1.44 were found. These thresholds were not significantly different from zero. Also found was the dose effect to be significantly decreased with increase of the age at exposure. Similar results had been suggested in cases of Swedish infants, of astronauts, and of Chernobyl clean-up workers. The dose response was further investigated for prevalence and incidence by spreading the criterion of patients to those undergone the operation to remove the lens assuming it had been derived from CA. Analysis of the dose-incidence revealed that the threshold was 0.5 Gy as estimated by the excess relative risk model and 0.45 Gy, by the excess absolute risk model. Findings above indicate that thresholds of CA found recently is much lower than the past 2-5 Gy and can be absent from the statistic aspect, which lead to the revision of the recommendation. The difference between the past and recent threshold is due to the difference of CA tissue types, of the age at exposure and of estimation. (T.T.)

  5. Molecular and Genetic Studies of Congenital Myopathies

    Science.gov (United States)

    2018-03-21

    Central Core Disease; Centronuclear Myopathy; Congenital Fiber Type Disproportion; Multiminicore Disease; Myotubular Myopathy; Nemaline Myopathy; Rigid Spine Muscular Dystrophy; Undefined Congenital Myopathy

  6. Genetics Home Reference: Fukuyama congenital muscular dystrophy

    Science.gov (United States)

    ... with mental retardation Muscular dystrophy, congenital, Fukuyama type Muscular dystrophy, congenital, with central nervous system involvement Polymicrogyria with muscular dystrophy Related Information How ...

  7. TUG1 promotes lens epithelial cell apoptosis by regulating miR-421/caspase-3 axis in age-related cataract.

    Science.gov (United States)

    Li, Guoxing; Song, Huiyang; Chen, Lei; Yang, Weihua; Nan, Kaihui; Lu, Peirong

    2017-07-01

    Age-related cataract is among the most common chronic disorders of ageing and the apoptosis of lens epithelial cells contributes to non-congenital cataract development. We amid to explore the role of TUG1 and miR-421 in the age-related cataract. The expression level of TUG1, miR-421 and caspase-3 were detected by RT-qPCR. The apoptotic-related protein, caspase-3, Bax and blc-2 were analyzed by western blot. We performed ultraviolet (UV) irradiation to induce SAR01/04 cell apoptosis which was analyzed by flow cytometry. RIP pull-down and luciferase reporter assay were used to verified the combination and regulating among TUG1, miR-421 and caspase-3. Here, we observed that the expression level of TUG1 and caspase-3 in the anterior lens capsules of age-related cataract were significantly higher and miR-421 was significantly lower than that in the normal anterior lens capsules. The apoptosis-related protein, caspase-3, Bax and blc-2 were abnormal expression in the anterior lens capsules of age-related cataract tissue. Our data showed that the expression level of TUG1 and caspase-3 and cell apoptosis rate in SAR01/04 cells treated with UV irradiation was remarkably higher than that in the control. TUG1 negatively regulated miR-421 expression and promoted UV irradiation-induced SAR01/04 cell apoptosis. However, miR-421 inhibitor and pcDNA-caspase-3 could reverse the action of the SRA01/04 cell apoptosis by si-TUG1, which suggested TUG1 promoted UV irradiation-induced apoptosis through downregulating miR-421 expression. Furthermore, this study confirmed TUG1 could been in combination with miR-421, and TUG1 and caspase-3 were both a directly target of miR-421. TUG1 modulated lens epithelial cell apoptosis through miR-421/caspase-3 axis. These findings will offer a novel insight into the pathogenesis of cataract. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. Topical anesthesia: possible risk factor for endophthalmitis after cataract extraction.

    Science.gov (United States)

    Garcia-Arumi, Jose; Fonollosa, Alex; Sararols, Laura; Fina, Francesc; Martínez-Castillo, Vicente; Boixadera, Ana; Zapata, Miguel A; Campins, Magda

    2007-06-01

    To assess the relationship between the risk for acute endophthalmitis after cataract extraction and whether certain factors, such as surgeon qualification, numerical order, duration of surgery, operating theater, and type of anesthesia (topical or retrobulbar), could be modified to decrease the risk. Single-center academic practice. Two epidemiological studies were performed: a case-control study and a retrospective cohort study. The surgical records of all patients with clinically diagnosed endophthalmitis within 30 days after cataract surgery performed between February 2002 and September 2003 were reviewed. The endophthalmitis cases were compared with 108 randomly selected controls (4 controls per case). The global incidence of endophthalmitis and the incidence according to type of anesthesia were calculated. Of 5011 cataract extractions performed, 27 cases of endophthalmitis occurred. The incidence was 5.39 per 1000 procedures. An independent statistically significant relationship was found between endophthalmitis and the use of topical anesthesia (odds ratio [OR], 11.8; 95% confidence interval [CI], 2.4-58.7) and surgery longer than 45 minutes (OR, 7.2; 95% CI, 1.7-29.7) but not between the other variables. The incidence of endophthalmitis was 1.8 per 1000 cataract extractions with retrobulbar anesthesia and 6.76 per 1000 with topical anesthesia (relative risk [RR], 3.76; 95% CI, 0.89-15.85). After the start of the study period was extended to May 2001, the incidence of endophthalmitis was 1.3 per 1000 cataract extractions with retrobulbar anesthesia and 8.7 per 1000 with topical anesthesia (RR, 6.72; 95% CI, 1.63-27.63). Results suggest that there may be an association between topical anesthesia and endophthalmitis after cataract extraction.

  9. Low-Dose Radiation Cataract and Genetic Determinants of Radiosensitivity

    Energy Technology Data Exchange (ETDEWEB)

    Kleiman, Norman Jay [Columbia University

    2013-11-30

    The lens of the eye is one of the most radiosensitive tissues in the body. Ocular ionizing radiation exposure results in characteristic, dose related, progressive lens changes leading to cataract formation. While initial, early stages of lens opacification may not cause visual disability, the severity of such changes progressively increases with dose until vision is impaired and cataract extraction surgery may be required. Because of the transparency of the eye, radiation induced lens changes can easily be followed non-invasively over time. Thus, the lens provides a unique model system in which to study the effects of low dose ionizing radiation exposure in a complex, highly organized tissue. Despite this observation, considerable uncertainties remain surrounding the relationship between dose and risk of developing radiation cataract. For example, a growing number of human epidemiological findings suggest significant risk among various groups of occupationally and accidentally exposed individuals and confidence intervals that include zero dose. Nevertheless, questions remain concerning the relationship between lens opacities, visual disability, clinical cataract, threshold dose and/or the role of genetics in determining radiosensitivity. Experimentally, the response of the rodent eye to radiation is quite similar to that in humans and thus animal studies are well suited to examine the relationship between radiation exposure, genetic determinants of radiosensitivity and cataractogenesis. The current work has expanded our knowledge of the low-dose effects of X-irradiation or high-LET heavy ion exposure on timing and progression of radiation cataract and has provided new information on the genetic, molecular, biochemical and cell biological features which contribute to this pathology. Furthermore, findings have indicated that single and/or multiple haploinsufficiency for various genes involved in DNA repair and cell cycle checkpoint control, such as Atm, Brca1 or Rad9

  10. Prevalence of Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Akhavan Karbasi Sedighah

    2009-05-01

    Full Text Available Congenital malformation (CM will begin to emerge as one of the major childhood health problems .Treatment and rehabilitation of children with congenital malformations are costly and complete recovery is usually impossible. The aim of this study was to determine frequency of CM in Yazd central city of the Islamic Republic of Iran to find out if there has been any difference in the rate and types of CM in this area. This descriptive-observational study carried on 4800 births delivered at all maternity hospitals in Yazd from October 2003 to June 2004. Prevalence of CM was 2.83% (2.86 % in male and 2.68 % in female out of the 136 cases 69(51.88% were males and 64 (48.12% were females and 3 with ambiguous genitalia. Positive family history of CM in sibling was in only 6 cases (4.41%.Overall, musculoskeletal (0.83%, central nerv-ous system (0.47% and genital system (0.37% were accounted as the most common. Frequency of CM was more seen in still birth (12.5% as in comparison to live birth (2.71%. There was not statistical difference be-tween prevalence of CM and neonatal's gender, gestational age, birth order and mother's age, drug ingestion, illness and parental consanguinity. In this study the overall prevalence of congenital malformation among the newborn was higher than those previous reported in Iran and determining the causes of this difference needs more extensive studies.

  11. Evaluation of povidone-iodine applications in cataract surgery

    Directory of Open Access Journals (Sweden)

    Xi Zhang

    2013-09-01

    Full Text Available As a routine measure to prevent intraocular inflammation, rinsing conjunctival sac with povidone-iodine(PVP-Ihas been increasingly adopted in cataract surgery. It can effectively reduce the complications of cataract surgery, including endophthalmitis and corneal complications. However, PVP-I itself has certain side effects. Therefore, to achieve the best bactericidal effect and to avoid eye injury, it is necessary to find out the optimal treatment duration and concentration. This article offers a review on the latest researches worldwide in this field.

  12. Congenital Midureteric Stricture

    Directory of Open Access Journals (Sweden)

    Singh Shalinder

    2001-01-01

    Full Text Available Congenital midureteric obstruction is a rare entity which can be caused by either ureteric valves or strictures. We report our experience with four patients with midureteric obstruction due to stricture over a six-year period. The condition needs to be differentiated from obstruction of the pelviureteric and vesicoureteric junctions. Obstruction can be initially screened by ultrasound and confirmed by a radionuclide scan with furosemide challenge. Retrograde ureteropyelography and/or intravenous urography may be required to define the level of the stricture.

  13. Nonclassic Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    Selma Feldman Witchel

    2010-01-01

    Full Text Available Nonclassic congenital adrenal hyperplasia (NCAH due to P450c21 (21-hydroxylase deficiency is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias favoring diagnosis in females. Treatment goals include normal linear growth velocity and “on-time” puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and fertility. This paper will review key aspects regarding pathophysiology, diagnosis, and treatment of NCAH.

  14. Congenital Syphilis Masquerading as Leukemia

    OpenAIRE

    Lee, Tiffany; Bell, Stephanie; Scimeme, Jason; Maraqa, Nizar

    2017-01-01

    As of late, the incidence of congenital syphilis in the United States is increasing. Each new case represents a failure of preventing, diagnosing, and treating syphilis in pregnant women. Pediatricians should confirm that all women have received adequate screening for and management of syphilis during pregnancy. Congenital syphilis is easily treatable but may be a diagnostic challenge with high morbidity and mortality.

  15. What Are Congenital Heart Defects?

    Science.gov (United States)

    ... a baby with a congenital heart defect. Family history and genetics Congenital heart disease is not usually passed along ... you or your child to a specialist in genetic testing. Cardiac MRI to diagnose a ... Factors to review family history, smoking, and medicines that increase your risk of ...

  16. [Neonatal tumours and congenital malformations].

    Science.gov (United States)

    Berbel Tornero, O; Ortega García, J A; Ferrís i Tortajada, J; García Castell, J; Donat i Colomer, J; Soldin, O P; Fuster Soler, J L

    2008-06-01

    The association between pediatric cancer and congenital abnormalities is well known but, there is no exclusive data on the neonatal period and the underlying etiopathogenic mechanisms are unknown. First, to analyze the frequency of neonatal tumours associated with congenital abnormalities; and second, to comment on the likely etiopathogenic hypotheses of a relationship between neonatal tumours and congenital abnormalities. Historical series of neonatal tumours from La Fe University Children's Hospital in Valencia (Spain), from January 1990 to December 1999. Histological varieties of neonatal tumours and associated congenital abnormalities were described. A systematic review of the last 25 years was carried out using Medline, Cancerlit, Index Citation Science and Embase. The search profile used was the combination of "neonatal/congenital-tumors/cancer/neoplasms" and "congenital malformations/birth defects". 72 neonatal tumours were identified (2.8% of all pediatric cancers diagnosed in our hospital) and in 15 cases (20.8%) there was some associated malformation, disease or syndrome. The association between congenital abnormalities and neonatal tumours were: a) angiomas in three patients: two patients with congenital heart disease with a choanal stenosis, laryngomalacia; b) neuroblastomas in two patients: horseshoe kidney with vertebral anomalies and other with congenital heart disease; c) teratomas in two patients: one with cleft palate with vertebral anomalies and other with metatarsal varus; d) one tumour of the central nervous system with Bochdaleck hernia; e) heart tumours in four patients with tuberous sclerosis; f) acute leukaemia in one patient with Down syndrome and congenital heart disease; g) kidney tumour in one case with triventricular hydrocephaly, and h) adrenocortical tumour: hemihypertrophy. The publications included the tumours diagnosed in different pediatric periods and without unified criteria to classify the congenital abnormalities. Little data

  17. The results of ab interno laser thermal sclerostomy combined with cataract surgery versus trabeculectomy combined with cataract surgery 6 to 12 months postoperatively.

    Science.gov (United States)

    Kendrick, R; Kollarits, C R; Khan, N

    1996-07-01

    When cataract surgery and glaucoma surgery are combined, the theoretical advantages of pressure control, removal of the visual impairment, and protection against an increase in intraocular pressure (IOP) in the immediate postoperative period are gained. The authors' objective was to determine whether ab interno laser thermal sclerostomy (LTS) combined with cataract surgery would be as effective as trabeculectomy combined with cataract surgery. Ab interno LTS was compared with trabeculectomy, retrospectively, for patients who had undergone combined cataract and glaucoma surgery. There was no significant difference in the numbers of patients using no medications or fewer medications at 6 and 12 months. There was a greater reduction in IOP in the LTS group. LTS may be better than trabeculectomy in combined cataract and glaucoma surgery because it reduces the IOP more. Compared with trabeculectomy, LTS is simpler to perform and adds less operating time to cataract surgery. Continued follow-up is recommended.

  18. Catarata pediátrica pós-trauma Traumatic pediatric cataract

    Directory of Open Access Journals (Sweden)

    Fernando Antonio de M. Leal

    2004-04-01

    Full Text Available OBJETIVO: Estudar a catarata pediátrica pós-trauma, com relação ao tipo de trauma, o tempo decorrido entre este e a cirurgia e a correlação entre a acuidade visual obtida com o tratamento realizado. MÉTODOS: Estudo retrospectivo de pacientes atendidos no serviço de Catarata Congênita da Universidade Federal de São Paulo, no período de agosto de 1988 a dezembro de 2001, com diagnóstico de catarata pediátrica pós-trauma. RESULTADOS: Foram revisados 66 prontuários de pacientes com diagnóstico de catarata pediátrica após trauma, correspondendo a uma incidência de 4,80% do total de casos atendidos no serviço. Com relação ao sexo, 47 (71,22% eram do sexo masculino e 19 (28,78% do sexo feminino. Do total de casos de trauma, 35 (53,03% foram contusos, 21 (31,82% penetrantes e 10 (15,15% não classificados. O tempo médio decorrido entre o trauma e a cirurgia foi de 7 anos e seis meses. As principais complicações pós-operatórias descritas foram seqüelas de uveítes em 13 pacientes (21,12% e opacificação de cápsula posterior em 10 (15,15%. Em 30 olhos foi possível obtermos as acuidades visuais inicial e final; deste total, 1 olho (3,33% possuía AV inicial superior ou igual a 20/60 com melhor correção e 12 (40% olhos AV final superior ou igual a 20/60 com melhor correção. Os pacientes foram acompanhados em média por 2 anos. CONCLUSÃO: A melhora da acuidade visual foi estatisticamen-te significante (teste de Wilcoxon pPURPOSE: To study the pediatric cataract after trauma, it's relation to the kind of the trauma, the time elapsed between trauma and surgery and the correlation between corrected visual acuity and treatment. METHODS: We reviewed the medical records of all patients who presented diagnosis of traumatic cataract between August 1988 and December 2001 at the Congenital Cataract Service of Federal University of São Paulo. RESULTS: Sixty-six patients with diagnosis of pediatric cataract after trauma were studied

  19. Congenital nystagmus and negative electroretinography

    Directory of Open Access Journals (Sweden)

    Roussi M

    2011-04-01

    Full Text Available Mirella Roussi, Hélène Dalens, Jean Jacques Marcellier, Franck BacinDepartment of Ophthalmology, Clermont-Ferrand University, Clermont-Ferrand, FranceAbstract: Congenital nystagmus is a pathologic oculomotor state appearing at about three to four months of age. The precise diagnosis requires detailed clinical examination and electrophysiological findings. This case report presents two male patients with congenital nystagmus examined longitudinally from the age of six months until 17-18 years of age. Clinical and electrophysiological protocols were detailed. The first results showed electronegative electroretinography in the two cases and examination combined with electroretinographic findings helped us to make the diagnosis of Congenital Night Stationary Blindness (CSNB. This diagnosis was confirmed by genetic studies. CSNB is interesting to study because through electrophysiological findings, it enables a better understanding of the physiology of neural transmission in the outer part of the retina.Keywords: Congenital nystagmus, negative electroretinography, congenital night stationary blindness

  20. Congenital Leukemia in Down's syndrome

    International Nuclear Information System (INIS)

    Iqbal, W.; Khan, F.; Muzaffar, M.; Khan, U. A.; Rehman, M. U.; Khan, M. A.; Bari, A.

    2006-01-01

    Congenital Leukemia is a condition and often associated with fatal outcome/sup 1/. Most of the neonatal cases reported have acute non-lymphoblastic leukemia, in contrast to the predominance of acute lymphoblastic leukemia found in later childhood. congenital leukemia is occasionally associated with number of congenital anomalies and with chromosomal disorders such as Down's syndrome. Subtle cytogenetic abnormalities may occur more commonly in the affected infants and their parents, when studied with newer cytogenetic techniques/sup 2/. Inherent unstable hematopoieses resulting from chromosomal aberration in children with Downs's syndrome can present with transient myeloproliferative disorder, mimicking leukemia which undergoes spontaneous recovery/sup 3/. Only few cases of congenital leukemia with Downs syndrome, presented as congenital leukemia. (author)

  1. Non cancerous diseases following a chronic intern contamination by caesium 137: cataracts and cardiac arrhythmias; Pathologies non cancereuses potentiellement consecutives a une contamination interne chronique par le cesium 137: cataractes et arythmies cardiaques

    Energy Technology Data Exchange (ETDEWEB)

    Landon, G

    2008-07-15

    This work of thesis joins within the framework of an analysis of the sanitary consequences of the nuclear accident of Chernobylsk. Since 2005, the I.R.S.N. is interested in the not cancerous pathologies (cataracts, and cardiac arrhythmias) observed among the children living on the contaminated territories after the fallout of Chernobylsk and has in this aim implemented a research programme called E.P.I.C.E. (Evaluation of the pathologies induced by a chronicle contamination by cesium) whom objective is to show an eventual link between the chronicle ingestion of contaminated food and these pathologies emergence. An exploitation of the results of the pilot study,first phase of the E.P.I.C.E. program was realized. The analysis was completed by two bibliographical reviews relative to the knowledge available on these diseases. The results of this pilot study suggest: on one hand, an absence of link between the activity in cesium 137 at the level of the heart, of the whole body and the emergence of disorder of the heart rhythm; on the other hand, for the cases of cataract, a link between the load in cesium 137 at the neck level and the emergence of the disease in 40 % of the cases. However, these results must be considered with caution because several limits and, in particular, a way of selection affect this study. concerning the scientific literature, this one stays rather poor because only thee articles make reference to a relationship between cesium 137 and the emergence of these non cancerous pathologies. After having exposed the context, this thesis draws up the situation of knowledge relative to cataracts and to cardiac arrhythmias and their possible relationship with ionizing radiations, collect the results stemming from the analysis of the pilot study and envisages future epidemiological studies. (N.C.)

  2. Congenital nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Claudia Fanni

    2014-06-01

    Full Text Available CNS (Congenital nephrotic syndrome is a disorder characterized by the presence of a nephrotic syndrome in the first three months of life. Different pathologies can cause this syndrome. In general, we can distinguish primary forms (sporadic and hereditary and secondary forms (acquired and associated with other syndromes. The most common form is the Finnish CNS (CNF, congenital nephrotic syndrome of the Finnish type, a hereditary form whose name derives from the fact that the highest incidence is described in that country (1.2:10,000. The pathogenesis, the clinical picture, the diagnostic criteria, the therapy and the outcome are described in details.  Proceedings of the International Course on Perinatal Pathology (part of the 10th International Workshop on Neonatology · October 22nd-25th, 2014 · Cagliari (Italy · October 25th, 2014 · The role of the clinical pathological dialogue in problem solving Guest Editors: Gavino Faa, Vassilios Fanos, Peter Van Eyken

  3. Congenital extrahepatic portosystemic shunts

    Energy Technology Data Exchange (ETDEWEB)

    Murray, Conor P.; Yoo, Shi-Joon; Babyn, Paul S. [Department of Diagnostic Imaging, Hospital for Sick Children, 555 University Avenue, M5G 1X8, Toronto, Ontario (Canada)

    2003-09-01

    A congenital extrahepatic portosystemic shunt (CEPS) is uncommon. A type 1 CEPS exists where there is absence of intrahepatic portal venous supply and a type 2 CEPS where this supply is preserved. The diagnosis of congenital portosystemic shunt is important because it may cause hepatic encephalopathy. To describe the clinical and imaging features of three children with CEPS and to review the cases in the published literature. The diagnostic imaging and medical records for three children with CEPS were retrieved and evaluated. An extensive literature search was performed. Including our cases, there are 61 reported cases of CEPS, 39 type 1 and 22 type 2. Type 1 occurs predominantly in females, while type 2 shows no significant sexual preponderance. The age at diagnosis ranges from 31 weeks of intrauterine life to 76 years. Both types of CEPS have a number of associations, the most common being nodular lesions of the liver (n=25), cardiac anomalies (n=19), portosystemic encephalopathy (n=10), polysplenia (n=9), biliary atresia (n=7), skeletal anomalies (n=5), and renal tract anomalies (n=4). MRI is recommended as an important means of diagnosing and classifying cases of CEPS and examining the associated cardiovascular and hepatic abnormalities. Screening for CEPS in patients born with polysplenia is suggested. (orig.)

  4. Congenital extrahepatic portosystemic shunts

    International Nuclear Information System (INIS)

    Murray, Conor P.; Yoo, Shi-Joon; Babyn, Paul S.

    2003-01-01

    A congenital extrahepatic portosystemic shunt (CEPS) is uncommon. A type 1 CEPS exists where there is absence of intrahepatic portal venous supply and a type 2 CEPS where this supply is preserved. The diagnosis of congenital portosystemic shunt is important because it may cause hepatic encephalopathy. To describe the clinical and imaging features of three children with CEPS and to review the cases in the published literature. The diagnostic imaging and medical records for three children with CEPS were retrieved and evaluated. An extensive literature search was performed. Including our cases, there are 61 reported cases of CEPS, 39 type 1 and 22 type 2. Type 1 occurs predominantly in females, while type 2 shows no significant sexual preponderance. The age at diagnosis ranges from 31 weeks of intrauterine life to 76 years. Both types of CEPS have a number of associations, the most common being nodular lesions of the liver (n=25), cardiac anomalies (n=19), portosystemic encephalopathy (n=10), polysplenia (n=9), biliary atresia (n=7), skeletal anomalies (n=5), and renal tract anomalies (n=4). MRI is recommended as an important means of diagnosing and classifying cases of CEPS and examining the associated cardiovascular and hepatic abnormalities. Screening for CEPS in patients born with polysplenia is suggested. (orig.)

  5. Endothelial cell loss and refractive predictability in femtosecond laser-assisted cataract surgery compared with conventional cataract surgery

    DEFF Research Database (Denmark)

    Krarup, Therese; Holm, Lars Morten; la Cour, Morten

    2014-01-01

    and the contralateral eye operated by CPS (stop and chop technique). Both eyes had intraocular aspheric lenses implanted. Uncorrected distance visual acuity (UDVA), corrected distance visual acuity (CDVA), central corneal endothelial cell count and hexagonality with a non-contact specular microscope were assessed......PURPOSE: To investigate the amount of endothelial cell loss (ECL) and refractive predictability by femtosecond laser-assisted cataract surgery (FLACS) compared to conventional phacoemulsification cataract surgery (CPS). METHODS: Forty-seven patients had one eye operated by FLACS...

  6. Cataract surgical coverage rate among adults aged 40 years and older

    Directory of Open Access Journals (Sweden)

    Lusianawaty Tana

    2016-02-01

    Full Text Available Cataract is a leading cause of curable blindness. Hence, in its global declaration of ‘Vision 2020 Right to Sight’, the World Health Organization (WHO encouraged its member countries to address the problem of incident cataract. Many factors are related to the cataract surgical coverage rate, such as gender and diabetes mellitus. The objective of this study was to determine the cataract surgical coverage rate and investigate the determinants factors of cataract surgical coverage rate among adults 40 years old and above with cataract. A cross sectional study was conducted using National Basic Health Research (Riskesdas 2007 data. Cataract surgery was defined as surgery conducted within the last 12 months before the survey was performed. There were 6939 subjects (3105 male, 3834 female who fulfilled the study criteria. The cataract surgical coverage rate was 19.3%. The cataract surgical coverage rate was lower in subjects with low education, in the group of farmers/fishermen/laborers, in the 40-49 years age group, in rural areas, and in subjects of low socioeconomic status (p0.05. Determinants that were related to cataract surgical coverage rate were age, type of area of residence, socioeconomic status, and region of residence (p<0.001. The implementation of educational programs and reforms to local ophthalmic health services may improve the cataract surgical coverage rate.

  7. The value of serial personal photographs in timing the onset of unilateral cataracts in children.

    Science.gov (United States)

    Sawhney, Gagan K; Hutchinson, Amy K; Lambert, Scott R

    2009-10-01

    To determine the value of serial personal photographs in timing the onset of unilateral cataracts in children over 6 months of age. Personal photographs from children with unilateral cataracts who underwent cataract extraction and intraocular lens implantation when > or =6 months of age were reviewed. Photographs were evaluated for changes in the red reflex, which might indicate the presence of a cataract. Twelve children underwent cataract surgery at a mean age of 37 months. They were followed for a mean of 32 months. Ten children were diagnosed as having an acquired cataract by photographic review documenting a previously normal red reflex. The visual acuity in the affected eye of 4 of these children improved to > or =20/60. Cataracts were visible on photographs prior to clinical diagnosis in 6 patients, from 0.5 to 22 months prior to clinical diagnosis. Visual outcomes did not relate closely to the photographically documented duration of the cataract prior to treatment. Photographs were not helpful in timing the onset of cataract in 2 children due to the poor quality of the images. Serial personal photographs are sometimes helpful in determining whether cataracts are acquired. However, the usefulness of personal photographs alone in predicting the visual outcome after cataract surgery was limited in this small, retrospective study.

  8. Mimicking cataract-induced visual dysfunction by means of protein denaturation in egg albumen

    Science.gov (United States)

    Mandracchia, B.; Finizio, A.; Ferraro, P.

    2016-03-01

    As the world's population ages, cataract-induced visual dysfunction and blindness is on the increase. This is a significant global problem. The most common symptoms of cataracts are glared and blurred vision. Usually, people with cataract have trouble seeing and reading at distance or in low light and also their color perception is altered. Furthermore, cataract is a sneaky disease as it is usually a very slow but progressive process, which creates adaptation so that patients find it difficult to recognize. All this can be very difficult to explain, so we built and tested an optical device to help doctors giving comprehensive answers to the patients' symptoms. This device allows visualizing how cataract impairs vision mimicking the optical degradation of the crystalline related cataracts. This can be a valuable optical tool for medical education as well as to provide a method to illustrate the patients how cataract progression process will affect their vision.

  9. Congenital neutropenia: diagnosis, molecular bases and patient management

    Directory of Open Access Journals (Sweden)

    Chantelot Christine

    2011-05-01

    Full Text Available Abstract The term congenital neutropenia encompasses a family of neutropenic disorders, both permanent and intermittent, severe ( When neutropenia is detected, an attempt should be made to establish the etiology, distinguishing between acquired forms (the most frequent, including post viral neutropenia and auto immune neutropenia and congenital forms that may either be isolated or part of a complex genetic disease. Except for ethnic neutropenia, which is a frequent but mild congenital form, probably with polygenic inheritance, all other forms of congenital neutropenia are extremely rare and have monogenic inheritance, which may be X-linked or autosomal, recessive or dominant. About half the forms of congenital neutropenia with no extra-hematopoetic manifestations and normal adaptive immunity are due to neutrophil elastase (ELANE mutations. Some patients have severe permanent neutropenia and frequent infections early in life, while others have mild intermittent neutropenia. Congenital neutropenia may also be associated with a wide range of organ dysfunctions, as for example in Shwachman-Diamond syndrome (associated with pancreatic insufficiency and glycogen storage disease type Ib (associated with a glycogen storage syndrome. So far, the molecular bases of 12 neutropenic disorders have been identified. Treatment of severe chronic neutropenia should focus on prevention of infections. It includes antimicrobial prophylaxis, generally with trimethoprim-sulfamethoxazole, and also granulocyte-colony-stimulating factor (G-CSF. G-CSF has considerably improved these patients' outlook. It is usually well tolerated, but potential adverse effects include thrombocytopenia, glomerulonephritis, vasculitis and osteoporosis. Long-term treatment with G-CSF, especially at high doses, augments the spontaneous risk of leukemia in patients with congenital neutropenia.

  10. ASSESSMENT OF PLASMA ZINC STATUS OF SENILE CATARACT ...

    African Journals Online (AJOL)

    ... AND NON-CATARACT ELDERLY PATIENTS IN MID-WESTERN NIGERIA- A CASE ... which may occur in zinc deficiency even with normal vitamin A status. ... La présente étude a pour objet d\\'évaluer le niveau de zinc chez les malades ...

  11. A Sudden Total Loss of Vision After Routine Cataract Surgery ...

    African Journals Online (AJOL)

    We share our experience of a 50-year-old controlled hypertensive woman who had routine cataract surgery in her left eye. She was given retrobulbar Xylocaine with adrenalin and postoperative gentamycin. She subsequently became blind in the operated eye after developing macular infarction by the first day post ...

  12. Visual Outcome Of Traumatic Cataract Surgery In Ibadan, Nigeria ...

    African Journals Online (AJOL)

    Causes of traumatic cataract includedwood /stick splinters in 7 (21.9%), cane/ whiplash injury 6(18.8%), and propelled missile injuries, 5(15.6%). Less important cause of injuries were gun shot, road traffic accident and fist injuries. 11 (35.6%) of the patients had best corrected post operative visual acuity of >6/18, 10 (32.2%) ...

  13. Trainee ophthalmologists' opinions on ways to improve cataract ...

    African Journals Online (AJOL)

    Objective: To know the opinions of trainee ophthalmologists on ways to improve cataract surgical rate (CSR) with a view to having insight into actions that should be of high priority for achieving this improvement. Methods: A survey of 27 trainee ophthalmologists using structured self-administered questionnaire. Results: ...

  14. Preliminary observation of refractive cataract surgery assisted by femtosecond laser

    Directory of Open Access Journals (Sweden)

    Xiao-Li Wang

    2015-12-01

    Full Text Available AIM:To compare the differences of visual acuity and corneal astigmatism postoperatively between conventional refractive cataract surgery and that assisted by femtosecond laser.METHODS:Sixty patients(60 eyeswith age-related cataract and cornea astigmatism were divided into femtosecond group and conventional group randomly or voluntarily. The flat shaft, steep shaft and diopter of corneal astigmatism in patients in femtosecond group were inputted into the online vector calculators to get the location and width of the incision. Then femtosecond laser was used to make corneal releasing incision, the main and auxiliary incision. Phacoemulsification and aspheric multifocal intraocular lens implantation were undergone. Patients in conventional group received full-thickness relaxing incision by cornea paracentesis knife at the steepest meridian axis during phacoemulsification. Then aspheric multifocal intraocular lenses were implanted. Uncorrected distance visual acuity(UCDVA, uncorrected near visual acuity(UCNVAand cornea astigmatism were observed at 1d,1wk and 1mo postoperative. RESULTS:UCVA of patients in both groups was improved after the surgeries. UCDVA and UCNVA of femtosecond group were higher than those of conventional group, while the cornea astigmatism of femtosecond group was lower than that of conventional group.CONCLUSION:Refractile cataract surgery assisted by femtosecond laser canoffer better visual quality than conventional refractive cataract surgery because of lower cornea astigmatism and better visual acuity.

  15. Cataract production in mice by heavy charged particles

    International Nuclear Information System (INIS)

    Ainsworth, E.H.; Jose, J.; Yang, V.V.; Barker, M.E.

    1981-03-01

    The cataractogenic effects of heavy charged particles have been evaluated in mice in relation to dose and ionization density (LET/sub infinity/). The study was undertaken due to the high potential for eye exposures to HZE particles among SPS personnel working in outer space. This has made it imperative that the relative biological effectiveness (RBE) in relation to LET/sub infinity/ for various particles be defined so that appropriate quality factors (Q) could be assigned for estimation of risk. Although mice and men differ in susceptibility to radiation-induced cataracts, the results from this project should assist in defining appropriate quality factors in relation to LET/sub infinity/, particle mass, charge, or velocity. Evaluation of results indicated that : (1) low single doses (5 to 20 rad) of iron ( 56 Fe) or argon ( 40 Ar) particles are cataractogenic at 11 to 18 months after irradiation; (2) onset and density of the opacification are dose related; (3) cataract density (grade) at 9, 11, 13, and 16 months after irradiation shows partial LET/sub infinity/-dependence; and (4) the severity of cataracts is reduced significantly when 417 rad of 60 Co gamma radiation is given in 24 weekly 17 rad fractions compared to giving this radiation as a single dose, but cataract severity is not reduced by fractionation of 12 C doses over 24 weeks

  16. Complications of Cataract Surgery at the University Teaching ...

    African Journals Online (AJOL)

    Visual outcome was not significantly affected by the early postoperative complication, but was significantly affected by late postoperative complication. Proper management of operative complications will help in reducing their adverse effects on the eye. Key words: cataract surgery, operative, complications, visual outcome ...

  17. Cataract surgery in patients with pseudoexfoliation syndrome: current updates

    Directory of Open Access Journals (Sweden)

    Fontana L

    2017-07-01

    Full Text Available Luigi Fontana, Marco Coassin, Alfonso Iovieno, Antonio Moramarco, Luca Cimino Ophthalmology Unit, Arcispedale Santa Maria Nuova – IRCCS, Reggio Emilia, Italy Abstract: Pseudoexfoliation is a ubiquitous syndrome of multifactorial origin affecting elderly people by increasing the risk of cataract and secondary glaucoma development. Despite modern techniques and technologies for cataract surgery, pseudoexfoliation syndrome represents a challenge for surgeons because of the increased weakness of the zonular apparatus and limited pupil dilation. Due to the inherent difficulties during surgery, the risk of vitreous loss in these patients is several times higher than in cataract patients without pseudoexfoliation. Using currently available surgical devices (ophthalmic viscosurgical device, iris retractors and ring dilators, capsular tension ring, etc., the risk of intraoperative complications may be much reduced, allowing the surgeon to handle difficult cases with greater confidence and safety. This review analyzes the methodologic approach to the patient with zonular laxity with the aim of providing useful advices to limit the risks of intraoperative and postoperative complications. From the preoperative planning, to the intraoperative management of the small pupil and phacodonesis, and to the postoperative correction of capsule phimosis and intraocular lens dislocation, a step approach to the surgical management of pseudoexfoliation patients is illustrated. Keywords: pseudoexfoliation syndrome, cataract surgery, zonular laxity, intraocular lens implant, complications

  18. Affordability of cataract surgery using the Big Mac prices

    Directory of Open Access Journals (Sweden)

    Van C. Lansingh

    2015-01-01

    Conclusion: The price of cataract surgery does not consider the patient's capacity to pay, based on a simple tool such as the BMcI. This suggests affordability issues, particularly when patients work for minimum wages and/or do not have access to free health care.

  19. Phacoemulsification of bilateral cataracts in two pet rabbits

    African Journals Online (AJOL)

    Ibrahim Eldaghayes

    2018-04-04

    Apr 4, 2018 ... treatment of cataracts can be considered as a treatment option whenever a healthy rabbit is visually impaired due ... titers were 0.711 (>0.350: consistent with infection). ..... Valinhos, M.A.R., Ranzani, J.J.T., Rodrigues, A.C.L..

  20. [Treatable diseases of the nervous system with cataract formation].

    Science.gov (United States)

    Baumgartner, R W; Waespe, W

    1993-02-01

    The detection of a cataract in combination with a neurological deficit may provide the physician with important diagnostic help. But a minority of underlying diseases (angiokeratoma corporis diffusum, cerebrotendinous xanthomatosis, diabetes mellitus, galactosemia, hypocalcemia, Refsum's disease, Wilson's disease; Charles Bonnet syndrome; relapsing Perichondritis; adverse effects of medication and intoxications) can be treated causally. Therefore they are summed up and discussed in this paper.

  1. Poor cataract surgical output: Eye care workers perspective in north ...

    African Journals Online (AJOL)

    2012-01-25

    Jan 25, 2012 ... reasons were high cost and fear of surgery, distance of eye clinics from patients. Conclusions: Regular ... Cataract accounts for approximately 50% of the world. 37 million blind;[1] ..... Asia to sub-Saharan Africa? Glob Public ...

  2. Resultats visuels et complications apres chirurgie de la cataracte ...

    African Journals Online (AJOL)

    Resultats visuels et complications apres chirurgie de la cataracte: cas de l' Hopital Ophtalmologique Saint Andre de Tinre au nord-Benin. K.M. Amedome, C.R.A. Assavedo, M Aboudou, K Vonor, N Maneh, K Nonon Saa, K Dzidzinyo, K.D. Ayena, M Banla, K Balo ...

  3. Emerging issues in radiogenic cataracts and cardiovascular disease

    International Nuclear Information System (INIS)

    Hamada, Nobuyuki; Fujimichi, Yuki; Iwasaki, Toshiyasu; Nomura, Takaharu; Fujii, Noriko; Furuhashi, Masato; Kubo, Eri; Minamino, Tohru; Sato, Hitoshi

    2014-01-01

    In 2011, the International Commission on Radiological Protection issued a statement on tissue reactions (formerly termed non-stochastic or deterministic effects) to recommend lowering the threshold for cataracts and the occupational equivalent dose limit for the crystalline lens of the eye. Furthermore, this statement was the first to list circulatory disease (cardiovascular and cerebrovascular disease) as a health hazard of radiation exposure and to assign its threshold for the heart and brain. These changes have stimulated various discussions and may have impacts on some radiation workers, such as those in the medical sector. This paper considers emerging issues associated with cataracts and cardiovascular disease. For cataracts, topics dealt with herein include (1) the progressive nature, stochastic nature, target cells and trigger events of lens opacification, (2) roles of lens protein denaturation, oxidative stress, calcium ions, tumor suppressors and DNA repair factors in cataractogenesis, (3) dose rate effect, radiation weighting factor, and classification systems for cataracts, and (4) estimation of the lens dose in clinical settings. Topics for cardiovascular disease include experimental animal models, relevant surrogate markers, latency period, target tissues, and roles of inflammation and cellular senescence. Future research needs are also discussed. (author)

  4. Prevalence of Cataract Blindness in Rural Ethiopia | Woldeyes ...

    African Journals Online (AJOL)

    ... examinations were performed using torch light, 2.5 X magnifying glasses and an ophthalmoscope. Cataract was defined as lens opacity identified as the cause of blindness and low vision after ruling out other causes. Unfortunately, there was no access to a refraction set and slit lamp to conduct thorough examinations.

  5. Barriers to Utilization of Cataract Surgical Services in Ekiti State ...

    African Journals Online (AJOL)

    2016-11-09

    Nov 9, 2016 ... cataract surgical services was financial constraint as claimed by 65 (49.2%) of them; other reasons include ignorance ... and the new creations are licensed under the identical terms. For reprints contact: reprints@medknow. ... The questionnaire administered includes information on biodata, demographic ...

  6. Trypan blue-assisted posterior capsulorhexis in pediatric cataract surgery

    Directory of Open Access Journals (Sweden)

    Lotfy A

    2017-01-01

    Full Text Available Ayman Lotfy,1,2 Ayman Abdelrahman1,2 1Ophthalmology Department, Zagazig University Hospital, 2Alpha Vision Center, Zagazig, Egypt Purpose: To evaluate the safety and efficacy of staining the posterior capsule with trypan blue during capsulorhexis in pediatric cataract surgery.Patients and methods: This was a prospective randomized comparative study carried out at Alpha Vision Center, Zagazig, Egypt. This study included 2 groups of children with pediatric cataract randomly allocated to undergo irrigation and aspiration. In the trypan group, which included 11 eyes, trypan blue was used to stain the posterior capsule during posterior capsulorhexis. In the control group, which included 10 eyes, no staining was performed. All surgeries were performed by the same surgeon. The 2 groups were compared for criteria such as completion of capsulorhexis, disruption of vitreous face and in-the-bag intraocular lens implantation.Results: This study included 21 eyes of 16 patients (age range: 6 months–4 years. A statistically significant difference was observed for the following parameters between the 2 groups: capsulorhexis completion (P=0.04, vitreous face disruption (P=0.01 and in-the-bag intraocular lens implantation (P=0.022.Conclusion: This study suggests that staining of the posterior capsule during capsulorhexis in pediatric cataract operation gives better results than capsulorhexis without staining. The stain changes the capsule texture making capsulorhexis easier with fewer complications. Keywords: staining, capsulorhexis, pediatric, cataract, trypan

  7. Gender issues in a cataract surgical population in South India.

    Science.gov (United States)

    Joseph, Sanil; Ravilla, Thulasiraj; Bassett, Ken

    2013-04-01

    To investigate patterns and characteristics of men and women who used different cataract surgery payment streams in a South Indian hospital. We randomly sampled patients with age-related cataract aged 40 years and over from three routine cataract surgical service streams: walk-in paying, walk-in subsidized and free camp. Presenting visual acuity (VA) and cataract surgical details were obtained from routine hospital records. Demographic and socioeconomic factors were collected from patient interviews. Multiple logistic regression was used to investigate factors associated with use of different streams with walk-in paying as the reference group. There were 7076 eligible admissions (3742 women and 3334 men). Proportionately more women than men attended the walk-in subsidized (56%) or free camp sections (55%) compared to the walk-in paying stream (42%, odds ratio, OR, 1.40 95% confidence interval, CI, 1.25-1.57 and OR 1.33 95% CI 1.19-1.49, respectively). After adjustment for socioeconomic factors (illiteracy, not being in paid work), rural residence and poor presenting VA, OR for women compared to men for the walk-in subsided stream was 1.02, (95% CI 0.87-1.18) and for the free camp 0.94 (95% CI 0.80-1.11). Our results indicate that women are underrepresented in the paying section, reflecting their poorer socioeconomic and educational statuses.

  8. Evaluation of surgical outcome after cataract surgery with lens ...

    African Journals Online (AJOL)

    Ann Burgess

    Design: Retrospective record analysis. Subjects: Record cards of patients operated for cataract at Sakubva Eye Unit, Mutare, Zimbabwe in the period January – ... irrigation/aspiratin cannula. Residual cortex was aspirated and the anterior chamber (AC) deepened with viscoelastic or air depending on availability. A.

  9. Fetal chromosome abnormalities and congenital malformations: an ...

    African Journals Online (AJOL)

    The results also showed that Multiple congenital anomalies (MCA) represented among 42.2%, congenital malformation of CNS represents 26.6%, congenital malformation of the skeletal system 20%, congenital polycystic kidney 8.8% and pyloric stenosis in 2.2%. Among the 21 women with abnormal karyotype of amniotic ...

  10. Genetics Home Reference: critical congenital heart disease

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Critical congenital heart disease Critical congenital heart disease Printable PDF Open All Close All ... for Disease Control and Prevention: Congenital Heart Defects Disease InfoSearch: Congenital Heart Defects KidsHealth from Nemours Lucile Packard Children's ...

  11. [Clinical and anatomical features of congenital microphthalmia and anophthalmia in children and conservative methods of rehabilitation].

    Science.gov (United States)

    Sudovskaya, T V; Filatova, I A; Kiseleva, T N; Bobrovskaya, Yu A; Kokoeva, N Sh

    2016-01-01

    To develop a comprehensive classification system of distinctive clinical and anatomical features of congenital microphthalmia and anophthalmia in children and to specify indications, contraindications, and optimal timing of the primary and subsequent prosthetic treatment. A total of 70 patients with congenital micro- or anophthalmia aged from 1 month to 12 years were examined. Besides the routine ophthalmic examination, all patients underwent eye and orbit ultrasound (axial length measurement and B-scan), computed tomography of the orbits and skull, and immunological tests for infectious diseases (enzyme-linked immunosorbent assays). Basing on the examination we have determined the common types of congenital micro- and anophthalmia in children. We have also developed a stepwise prosthetic treatment aimed at better cosmetic rehabilitation. Indications and contraindications for the use of ocular prostheses in children with congenital micro- and anophthalmia have been identified. The proposed method of stepwise prosthetics is the principal option for conservative rehabilitation of children with congenital micro- or anophthalmia.

  12. General Concepts in Adult Congenital Heart Disease.

    Science.gov (United States)

    Mutluer, Ferit Onur; Çeliker, Alpay

    2018-01-20

    Congenital heart disease in adults (adult congenital heart disease) is a growing burden for healthcare systems. While infant mortality due to congenital heart disease in the last four decades decreased by almost 3-fold, adult congenital heart disease prevalence increased by more than 2-fold in United States. Adult congenital heart disease prevalence is expected to increase steadily until 2050 in projections. Adult congenital heart disease is a multifaceted problem with many dimensions. This manuscript aims to provide an overview of the common adult congenital heart diseases and summarize important points in management of these diseases with possible problems and complications that the patients and the physicians face.

  13. General Concepts in Adult Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Ferit Onur Mutluer

    2018-02-01

    Full Text Available Congenital heart disease in adults (adult congenital heart disease is a growing burden for healthcare systems. While infant mortality due to congenital heart disease in the last four decades decreased by almost 3-fold, adult congenital heart disease prevalence increased by more than 2-fold in United States. Adult congenital heart disease prevalence is expected to increase steadily until 2050 in projections. Adult congenital heart disease is a multifaceted problem with many dimensions. This manuscript aims to provide an overview of the common adult congenital heart diseases and summarize important points in management of these diseases with possible problems and complications that the patients and the physicians face

  14. Strabismus developing after unilateral and bilateral cataract surgery in children

    Science.gov (United States)

    David, R; Davelman, J; Mechoulam, H; Cohen, E; Karshai, I; Anteby, I

    2016-01-01

    Purpose To evaluate the prevalence and risk factors of strabismus in children undergoing surgery for unilateral or bilateral cataract with or without intraocular lens implantation. Methods Medical records of pediatric patients were evaluated from 2000 to 2011. Children undergoing surgery for unilateral or bilateral cataract with at least 1 year of follow-up were included. Children with ocular trauma, prematurity, or co-existing systemic disorders were excluded. The following data were evaluated: strabismus pre- and post-operation; age at surgery; post-operative aphakia or pseudophakia; and visual acuity. Results Ninety patients were included, 40% had unilateral and 60% had bilateral cataracts. Follow-up was on average 51 months (range: 12–130 months). Strabismus was found preoperatively in 34.4% children, and in 43.3% children at last follow-up. Strabismus developed in 46.2% of children who were orthotropic preoperatively, whereas 32.3% of children who had strabismus before surgery became orthotropic. Strabismus occurred after unilateral or bilateral cataract surgery in 63.9% and 29.6% children, respectively. At the last follow-up, strabismus was found in 46.7% of aphakic and 58.7% of pseudophakic children (P=0.283). Children who developed strabismus were generally operated at a younger age as compared with those without strabismus (mean of 25.9 vs 52.7 months, Pstrabismus. Conclusion Strabismus is a frequent complication after cataract surgery in children. Risk factors include unilateral cases and young age at surgery. No correlation was found between prevalence of strabismus and use of intraocular lens. Strabismus was more common in children with poor final visual acuity. PMID:27472210

  15. Observation of Influence of Cataract Surgery on the Ocular Surface.

    Directory of Open Access Journals (Sweden)

    Yuli Park

    Full Text Available To evaluate meibomian gland function, changes of lacrimal tears and ocular surface parameters and tear inflammatory mediators following cataract surgery.48 eyes of 34 patients who underwent uncomplicated phacoemulsification were involved and divided into 2 groups with those who had preexisting dry-eye before cataract surgery and those who did not. Ocular symptom score, Schirmer I test, tear film break-up time (TBUT, corneal sensitivity threshold, corneal staining, inflammatory cytokine activities, lid margin abnormalities, meibum expressibility, meibum quality and meibomian gland imaging were evaluated preoperatively, at 1 day, 1 and 2 months postoperatively.Ocular symptom scores were worse at 1 and 2 months postoperatively but, TBUT, corneal staining score and corneal sensitivity threshold showed gradual improvements at 1 month and 2 months postoperatively (p<0.05, respectively. Interestingly there were statistically significant improvements in TBUT, corneal staining score and corneal sensitivity threshold at 1 month postoperatively when topical eye drops were used compared to the period without topical therapy which is the months 2 postoperatively. There were statistically significant decreases in IL-1β, IL-6, IL-8, MCP-1, TNF-α and IFN-γ concentrations at 1 and 2 months postoperatively. Lid margin abnormalities, meibum quality and expressibility scores increased significantly (p < 0.05, respectively at postoperative period. Compared with the no dry eye group, dry eye group revealed significantly higher ocular symptom scores, lower TBUT, higher lid margin abnormalities, meibum quality and expressibility scores after cataract surgery. There were significant correlations between IL-6 and parameters of dry eye, and between MGD parameters and ocular symptom scores.Our study revealed that meibomian gland function is influenced after cataract surgery accompanying structural changes and these were correlated with increased ocular symptom scores

  16. Results of endocapsular phacofracture debulking of hard cataracts

    Directory of Open Access Journals (Sweden)

    Davison JA

    2015-07-01

    Full Text Available James A Davison Wolfe Eye Clinic, Marshalltown, IA, USA Purpose/aim of the study: To present a phacoemulsification technique for hard cataracts and compare postoperative results using two different ultrasonic tip motions during quadrant removal.Materials and methods: A phacoemulsification technique which employs in situ fracture and endocapsular debulking for hard cataracts is presented. The prospective study included 56 consecutive cases of hard cataract (LOCS III NC [Lens Opacification Classification System III, nuclear color], average 4.26, which were operated using the Infiniti machine and the Partial Kelman tip. Longitudinal tip movement was used for sculpting for all cases which were randomized to receive longitudinal or torsional/interjected longitudinal (Intelligent Phaco [IP] strategies for quadrant removal. Measurements included cumulative dissipated energy (CDE, 3 months postoperative surgically induced astigmatism (SIA, and corneal endothelial cell density (ECD losses.Results: No complications were recorded in any of the cases. Respective overall and longitudinal vs IP means were as follows: CDE, 51.6±15.6 and 55.7±15.5 vs 48.6±15.1; SIA, 0.36±0.2 D and 0.4±0.2 D vs 0.3±0.2 D; and mean ECD loss, 4.1%±10.8% and 5.9%±13.4% vs 2.7%±7.8%. The differences between longitudinal and IP were not significant for any of the three categories.Conclusion: The endocapsular phacofracture debulking technique is safe and effective for phacoemulsification of hard cataracts using longitudinal or torsional IP strategies for quadrant removal with the Infiniti machine and Partial Kelman tip. Keywords: astigmatism, cataract, corneal endothelium, phacoemulsification, viscoelastic

  17. [The occupational radiation-induced cataract in five industrial radiographers].

    Science.gov (United States)

    Benzarti Mezni, A; Loukil, I; Hriz, N; Kallel, K; Mlaiki, N; Ben Jemaâ, A

    2012-04-01

    The industrial uses of ionizing radiation in Tunisia are expanding, especially in industry and most particularly in the nondestructive testing of welds. Thus workers operating in the non-destructive testing of welds may develop a radiation-induced cataract varying in time to onset depending on the dose. To describe the characteristics of the radiation-induced cataract in patients exposed to ionizing radiation, determine the risk factors of radiation-induced cataracts. This was an anamnestic, clinical, and environmental study of five cases of radiation-induced cataract in workers employed in non-destructive testing of welds. This series of five cases had a mean age of 30.2 years and 5.53 years of work experience, ranging from 14 months to 15 years. All the patients were male and industrial radiographers specialized in nondestructive testing of welds. The average duration of exposure to ionizing radiation was 5.53 years. None of the patients had worn protective gear such as eye goggles. The ophthalmic check-up for the five special industrial radiographers showed punctuate opacities in three cases, punctiform opacities in one eye in one case, and phacosclerosis with bilateral lens multiple crystalline stromal opacities in a case of micro-lens opacities in both eyes with opalescence of both eyes in one case. These cataracts had been declared as occupational diseases. The value of a specialized ophthalmologic surveillance among these workers and the early diagnosis of lens opacities must be emphasized. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  18. Radioprotective effects of melatonin on radiation-induced cataract

    International Nuclear Information System (INIS)

    Karslioglu, Ie.; Ertekin, M.V.; Taysi, S.; Kocer, Ie.; Sezen, O.; Koc, M.; Bakan, N.; Gepdiremen, A.

    2005-01-01

    One of the mechanisms proposed to explain lens opacification is the oxidation of crystallins, either by radiation or reactive oxygen species (ROS). It has been shown that melatonin has both an anti-peroxidative effect on several tissues and a scavenger effect on ROS. The purpose of this study was to determine the antioxidant role of melatonin (5 mg/kg/day) against radiation-induced cataract in the lens after total-cranium irradiation of rats with a single dose of 5 Gy. Sprague-Dawley rats were divided into four groups. Control group received neither melatonin nor irradiation. Irradiated rats (IR) and melatonin+irradiated rats (IR+Mel) groups were exposed to total cranium irradiation of 5 Gy in a single dose by using a cobalt-60 teletherapy unit. IR+Mel and melatonin (Mel) groups were administered 5 mg/kg melatonin daily by intraperitoneal injections during ten days. Chylack's cataract classification was used in this study. At the end of the 10 th day, the rats were killed and their eyes were enucleated to measure the antioxidant enzymes i.e. the activity of superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px), and lipid peroxidation level (malondialdehyde (MDA)). Irradiation significantly increased the MDA level, as an end product of lipid peroxidation, and also significantly decreased SOD and GSH-Px activity, emphasizing the generation of increased oxidative stress. Rats injected with melatonin only did not cause cataract formation. Melatonin supplementation with irradiation significantly increased the activity of SOD and GSH-Px enzymes and significantly decreased the MDA level. Total cranium irradiation of 5 Gy in a single dose enhanced cataract formation, and melatonin supplementation protected the lenses from radiation-induced cataract formation. Our results suggest that supplementing cancer patients with adjuvant therapy of melatonin may reduce patients suffering from toxic therapeutic regimens such as chemotherapy and/or radiotherapy and may provide

  19. OPTIMIZATION OF LASER SURGERY OF THE SECONDARY CATARACT

    Directory of Open Access Journals (Sweden)

    O. I. Baum

    2016-01-01

    Full Text Available Background: This is a theoretical and experimental study of the thermomechanical effects of laser radiation with a wavelength of 1.06 microns on the eye tissues during a laser surgery on the secondary cataract (pupillary membrane. Its relevance is related to the rates of complications after laser surgery of the eye associated with the choice of energy and time parameters of the laser irradiation. These parameters are related to the occurrence of such factors as unstable fields of thermal stress and pressure that are difficult to take into account and indirectly lead to adverse events when removing the secondary cataract. Aim: To minimize side effects and to optimize the existing technology of laser removal of the secondary cataract. Materials and methods: Samples of a  normal lens capsule and of lens capsules with various types of opacities taken during a  cataract surgery, with various optic characteristics and thickness, were treated with an infrared laser (Nd:YAG laser, 1064 nm. We performed morphometric measurements and built up a  theoretical model of the processes in a continuous medium under the effects of impulse laser irradiation. Results: The results of numerical modelling with this newly developed theoretical model are in satisfactory agreement with the experimental data on development of deformities obtained with the autopsy materials (posterior capsule of the human lens with various optical characteristics and thickness, from thin transparent membranes to more thick opaque samples. Conclusion: This study would allow for optimization of the technology of laser treatment for secondary cataracts by changing the irradiation parameters during the procedure. 

  20. Early versus late traumatic cataract surgery and intraocular lens implantation.

    Science.gov (United States)

    Tabatabaei, S A; Rajabi, M B; Tabatabaei, S M; Soleimani, M; Rahimi, F; Yaseri, M

    2017-08-01

    PurposeTo determine the proper time for traumatic cataract surgery after open globe injuries.SettingFarabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran.DesignRandomized clinical trial.Patients and methodsIn a randomized clinical trial, 30 eyes with traumatic cataract after open globe injury with IOL implantation underwent early (in the first week after the trauma) and 30 eyes underwent late cataract surgery (from the first to second month after the trauma). We excluded patients who were under 12-year-old. All patients were visited at 1 week, 4 weeks, 12 weeks, and 6 months after surgery. In each visit, patients were examined regarding visual acuity, intraocular pressure (IOP), anterior chamber inflammation, IOL position, and posterior synechiae. In addition, posterior segment evaluation and fundoscopy were performed. Intraoperative complication including posterior capsular rupture, anterior vitrectomy, and zonulysis as well as the site of IOL implantation were documented and post-operative complications including raised IOP, anterior chamber inflammation, visual axis opacity, posterior synechiae, subluxation of IOL, and IOL pigment deposition were listed.ResultsBest-corrected visual acuity 6 months after surgery was not different between the two groups. Also in early cataract surgery group, the rate of posterior capsular rupture was not significantly higher than the late surgery group (P=0.069). On the other hand, zonulysis was significantly higher in the late procedure group (P=0.039). Other complications including anterior vitrectomy, raised IOP, anterior chamber inflammation, visual axis opacity, posterior synechiae, subluxation of IOL, and IOL pigment deposition were not different in the two groups.ConclusionsEarly and late traumatic cataract surgery and IOL implantation after open globe injuries, have no significant difference regarding the post-surgical BCVA and prominent intraoperative and post-operative complications.

  1. Profiles in congenital heart disease

    International Nuclear Information System (INIS)

    Freed, M.D.; Keane, J.F.

    1986-01-01

    Pediatric cardiology has made great strides in the diagnosis, management, and correction of complex congenital malformations in the past two decades. The foundation of these advances is a more precise understanding of the physiology and anatomy of complex lesions that has been obtained from cardiac catheterization and angiography. The techniques for catheterization of infants and children have been discussed in another paper. This chapter focuses on brief profiles of some of the more important congenital abnormalities. The incidence cited in the discussion of each abnormality pertains to a population comprises of children and adults referred to The Children's Hospital Medical Center and Peter Bent Brigham Hospital, respectively, for evaluation of congenital heart disease

  2. Congenital pyriform aperture stenosis

    International Nuclear Information System (INIS)

    Osovsky, Micky; Aizer-Danon, Anat; Horev, Gadi; Sirota, Lea

    2007-01-01

    Nasal airway obstruction is a potentially life-threatening condition in the newborn. Neonates are obligatory nasal breathers. The pyriform aperture is the narrowest, most anterior bony portion of the nasal airway, and a decrease in its cross-sectional area will significantly increase nasal airway resistance. Congenital nasal pyriform aperture stenosis (CNPAS) is a rare, unusual form of nasal obstruction. It should be considered in the differential diagnosis of any neonate or infant with signs and symptoms of upper airway compromise. It is important to differentiate this level of obstruction from the more common posterior choanal stenosis or atresia. CNPAS presents with symptoms of nasal airway obstruction, which are often characterized by episodic apnea and cyclical cyanosis. (orig.)

  3. Characterizing congenital amusia.

    Science.gov (United States)

    Stewart, Lauren

    2011-04-01

    The ability to make sense of the music in our environment involves sophisticated cognitive mechanisms that, for most people, are acquired effortlessly and in early life. A special population of individuals, with a disorder termed congenital amusia, report lifelong difficulties in this regard. Exploring the nature of this developmental disorder provides a window onto the cognitive architecture of typical musical processing, as well as allowing a study of the relationship between processing of music and other domains, such as language. The present article considers findings concerning pitch discrimination, pitch memory, contour processing, experiential aspects of music listening in amusia, and emerging evidence concerning the neurobiology of the disorder. A simplified model of melodic processing is outlined, and possible loci of the cognitive deficit are discussed.

  4. Neurobiology of Congenital Amusia.

    Science.gov (United States)

    Peretz, Isabelle

    2016-11-01

    The past decade of research has provided compelling evidence that musical engagement is a fundamental human trait, and its biological basis is increasingly scrutinized. In this endeavor, the detailed study of individuals who have musical deficiencies is instructive because of likely neurogenetic underpinnings. Such individuals have 'congenital amusia', an umbrella term for lifelong musical disabilities that cannot be attributed to intellectual disability, lack of exposure, or brain damage after birth. Key points are reviewed here that have emerged during recent years regarding the neurobiology of the disorder, focusing on the importance of recurrent processing between the right inferior frontal cortex and the auditory cortex for conscious monitoring of musical pitch, and how this relates to developmental cognitive disorders in general. Copyright © 2016 Elsevier Ltd. All rights reserved.

  5. Congenital sensorineural hearing loss

    International Nuclear Information System (INIS)

    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-01-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems

  6. Congenital sensorineural hearing loss

    Energy Technology Data Exchange (ETDEWEB)

    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-02-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems.

  7. Do older drivers with bilateral cataract self-regulate their driving while waiting for first eye cataract surgery?

    Directory of Open Access Journals (Sweden)

    Agramunt S

    2017-11-01

    Full Text Available Seraina Agramunt,1 Lynn B Meuleners,1 Michelle L Fraser,1 Kyle C Chow,1 Jonathon Q Ng,2,3 Vignesh Raja,4 Nigel Morlet2,3 1Curtin-Monash Accident Research Centre (C-MARC, Curtin University, Faculty of Health Sciences, Perth, Australia; 2Eye & Vision Epidemiology Research (EVER Group, Perth, Australia; 3School of Population and Global Health, The University of Western Australia, Perth, Australia; 4Sir Charles Gairdner Hospital, Perth, Australia Objectives: To analyze the association between visual impairment and driver self-regulation among a cohort of older drivers waiting for first eye cataract surgery.Methods: Ninety-six drivers with bilateral cataract aged 55+ years were assessed before first eye cataract surgery. Data collection consisted of a researcher-administered questionnaire, objective visual measures (visual acuity, contrast sensitivity and stereopsis, a visual attention test (the useful field of view test and a cognitive test (the Mini-Mental State Examination. Driver self-regulation practices were collected using the Driving Habits Questionnaire and were also measured with an in-vehicle monitoring device. Characteristics of self-regulators and non-self-regulators were compared and a logistic regression model was used to examine the association between 3 objective visual measures and driver self-regulation status.Results: After controlling for potential confounding factors, only binocular contrast sensitivity (p=0.01, age (p=0.03 and gender (p=0.03 were significantly associated with driver self-regulation status. The odds of participants with better contrast sensitivity scores (better vision self-regulating their driving in at least 1 driving situation decreased (odds ratio [OR]: 0.01, 95% CI: 0.00–0.28 while those of increasing age reported an increased odds of self-regulating their driving (OR: 1.08, 95% CI: 1.01–1.15. The odds of males self-regulating their driving was decreased compared with females (OR: 0.28, 95% CI: 0.09

  8. Femtosecond laser-assisted cataract surgery with bimanual technique: learning curve for an experienced cataract surgeon.

    Science.gov (United States)

    Cavallini, Gian Maria; Verdina, Tommaso; De Maria, Michele; Fornasari, Elisa; Volpini, Elisa; Campi, Luca

    2017-11-29

    To describe the intraoperative complications and the learning curve of microincision cataract surgery assisted by femtosecond laser (FLACS) with bimanual technique performed by an experienced surgeon. It is a prospective, observational, comparative case series. A total of 120 eyes which underwent bimanual FLACS by the same experienced surgeon during his first experience were included in the study; we considered the first 60 cases as Group A and the second 60 cases as Group B. In both groups, only nuclear sclerosis of grade 2 or 3 was included; an intraocular lens was implanted through a 1.4-mm incision. Best-corrected visual acuity (BCVA), surgically induced astigmatism (SIA), central corneal thickness and endothelial cell loss (ECL) were evaluated before and at 1 and 3 months after surgery. Intraoperative parameters, and intra- and post-operative complications were recorded. In Group A, we had femtosecond laser-related minor complications in 11 cases (18.3%) and post-operative complications in 2 cases (3.3%); in Group B, we recorded 2 cases (3.3%) of femtosecond laser-related minor complications with no post-operative complications. Mean effective phaco time (EPT) was 5.32 ± 3.68 s in Group A and 4.34 ± 2.39 s in Group B with a significant difference (p = 0.046). We recorded a significant mean BCVA improvement at 3 months in both groups (p  0.05). Finally, we found significant ECL in both groups with a significant difference between the two groups (p = 0.042). FLACS with bimanual technique and low-energy LDV Z8 is associated with a necessary initial learning curve. After the first adjustments in the surgical technique, this technology seems to be safe and effective with rapid visual recovery and it helps surgeons to standardize the crucial steps of cataract surgery.

  9. Anti-Cataract Potential of Heliotropium indicum Linn on Galactose-Induced Cataract in Sprague-Dawley Rats.

    Science.gov (United States)

    Kyei, Samuel; Koffuor, George A; Ramkissoon, Paul; Abu, Emmanuel K; Sarpong, Josephine F

    2017-03-01

    To evaluate the anti-cataract potential of an aqueous whole plant extract of Heliotropium indicum (HIE) on galactose-induced cataract in Sprague-Dawley rats. Cataract scores were recorded in 3-week-old Sprague-Dawley rats in which cataract was being induced by an oral administration of 1500 mgkg -1 galactose twice daily for 4 weeks, and concurrently being treated with 30, 100, or 300 mgkg -1 HIE daily over the induction period. Fasting blood glucose was monitored at weekly intervals. Changes in body weight as well as total lens protein, lens glutathione, and superoxide dismutase (SOD) were determined initially, and at the end of the experimental period. Crystalline lens weight-to-body-weight ratio was also determined for the various treatment groups at the end of the experimental period. Preliminary phytochemical screening, total antioxidant capacity, and reducing power assays were conducted on HIE. The 30 and 100 mgkg -1 HIE-treated rats recorded significantly lower (p ≤ 0.05-0.001) cataract scores (indicating very significant delays in cataractogenesis by the 3 rd and 4 th weeks of treatment) and blood glucose levels. Rats with delayed cataractogenesis also exhibited significant (p ≤ 0.05-0.001) weight gain, and reduction in lens weight. Total lens proteins glutathione and SOD levels in the crystalline lens were also significantly preserved (p ≤ 0.01-0.001). HIE showed substantial antioxidant capacity and reducing power. The aqueous whole plant extract of Heliotropium indicum delays cataractogenesis at an optimum dose of 30 mgkg -1 in Sprague-Dawley rats.

  10. Early Diagnosis of Congenital Trypanosoma cruzi Infection, Using Shed Acute Phase Antigen, in Ushuaia, Tierra del Fuego, Argentina

    Science.gov (United States)

    Mallimaci, María Cristina; Sosa-Estani, Sergio; Russomando, Graciela; Sanchez, Zunilda; Sijvarger, Carina; Alvarez, Isabel Marcela; Barrionuevo, Lola; Lopez, Carlos; Segura, Elsa Leonor

    2010-01-01

    Chagas' disease, or American trypanosomiasis, is caused by the protozoan parasite Trypanasoma cruzi. It is estimated that 15,000 new cases of congenital T. cruzi transmission occur in the Americas each year. The aim of this study was to estimate the rate of congenital T. cruzi infection in infants born to infected women living in Ushuaia, Argentina, as well to assess a serologic test using Shed Acute Phase Antigen (SAPA) for a timely diagnosis of congenital infection. The rate of congenital infection among children in the study was 4.4% (3/68). Our results show that for infants younger than 30 days of age, matched blood samples from mother and infant were capable of identifying congenital transmission of infection using an enzyme-linked immunosorbent assay with SAPA. For infants older than 3 months, congenital infection could be ruled out using the same procedure. PMID:20064996

  11. Congenital broncho-oesophageal fistula

    African Journals Online (AJOL)

    1983-04-09

    Apr 9, 1983 ... Rigid bronchoscopy performed under general anaesthesia .... Blackburn WR, Armour)' RA. Congenital esophago-pulmonary fistulas without esophageal atresia: an analysis of 260 fistulas in infants, children and adults.

  12. Congenital heart defect corrective surgeries

    Science.gov (United States)

    ... make it bigger with a patch made of Gore-tex, a man-made (synthetic) material. Another way ... 434. Bhatt AB, Foster E, Kuehl K, et al; American Heart Association Council on Clinical Cardiology. Congenital ...

  13. Congenital Heart Defects (For Parents)

    Science.gov (United States)

    ... to be associated with genetic disorders, such as Down syndrome . But the cause of most congenital heart defects isn't known. While they can't be prevented, many treatments are available for the defects and related health ...

  14. CHRNE Mutation and Congenital Myasthenia

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    J Gordon Millichap

    2009-01-01

    Full Text Available The CHRNE e1293insG mutation was identified in 14 (60% of 23 North African families with an early onset form of congenital myasthenic syndrome studied at centers in France, Tunisia, Algeria, and UK.

  15. Evaluation of antioxidants and argpyrimidine in normal and cataractous lenses in north Indian population

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    Bharani K Mynampati

    2017-07-01

    Full Text Available AIM: To assess the level of glutathione, thioltransferase, and argpyrimidine in nuclear and cortical cataractous lenses as well as in the clear lenses in the north Indian population. METHODS: Human cataractous lenses were collected from the patients who underwent extracapsular cataract extraction surgery; clear lenses were collected from the freshly donated eye bank eyes. Antioxidant molecules such as glutathione and thioltransferase enzyme activity were measured; simultaneously in these lenses a blue fluorophore argpyrimidine, an advanced glycation end (AGE product level was assessed using high performance liquid chromatography (HPLC. RESULTS: The protein concentration was found to be present at higher levels in the control lenses compared to cataract lenses. A significant decrease in the glutathione level was observed in the nuclear cataractous lenses compared to cortical cataractous (P=0.004 and clear lenses (P≤0.005, but no significant change in the level of antioxidant enzyme thioltransferase was observed. Further, argpyrimidine a blue fluorophore (AGE was found to be significantly higher in the nuclear cataract (P=0.013 compared to cortical cataract lenses. CONCLUSION: Antioxidants such as glutathione significantly decrease in age-related nuclear and cortical cataract and an AGE, argpyrimidine are present at significantly higher levels in nuclear cataract.

  16. [Analysis of cataract surgical rate and its influencing factors in Shanghai, China].

    Science.gov (United States)

    Zhu, Ming-ming; Zhu, Jian-feng; Zou, Hai-dong; He, Xian-gui; Zhao, Rong; Lu, Li-na

    2013-12-17

    To explore the cataract surgical rate (CSR) of Shanghai from 2006 to 2012 and examine its influencing factors. As of 2003, a cataract surgery registration form had been filled by physicians after every cataract surgery in Shanghai. The local eye disease prevention team then entered the relevant information into the Shanghai Cataract Operations Database. Based upon this database, CSR of Shanghai was calculated. And the number of cataract surgeries was compared between Shanghai urban and suburban districts as well as among different medical institutions. The overall CSR in Shanghai increased from 1741 in 2006 to 2313 in 2012. In 2012, CSR in urban districts reached 6013 while it stood at 460 and 584 in inner and outer suburb districts respectively. The number of hospitals performing cataract surgery in urban districts was much more than that in suburbs. And the average number of cataract surgeries per hospital per year in suburbs was only one third of that (748 cases) in urban areas. The number of cataract surgeries at in private hospitals increased rapidly during the past 7 years. The number of 1921 cases was nearly twice as many as that at tertiary hospitals in 2012. Phacoemulsification surgery was the most popular surgical choice for cataract removal, accounting for 98.40% of total cataract surgeries in 2012. Until 2012, CSR in Shanghai dropped below the target of World Health Organization (WHO). A low level of CSR in suburbs is a major influencing factor for the overall level of CSR in Shanghai.

  17. A case-control study to assess the relationship between poverty and visual impairment from cataract in Kenya, the Philippines, and Bangladesh.

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    Hannah Kuper

    2008-12-01

    Full Text Available BACKGROUND: The link between poverty and health is central to the Millennium Development Goals (MDGs. Poverty can be both a cause and consequence of poor health, but there are few epidemiological studies exploring this complex relationship. The aim of this study was to examine the association between visual impairment from cataract and poverty in adults in Kenya, Bangladesh, and the Philippines. METHODS AND FINDINGS: A population-based case-control study was conducted in three countries during 2005-2006. Cases were persons aged 50 y or older and visually impaired due to cataract (visual acuity < 6/24 in the better eye. Controls were persons age- and sex-matched to the case participants with normal vision selected from the same cluster. Household expenditure was assessed through the collection of detailed consumption data, and asset ownership and self-rated wealth were also measured. In total, 596 cases and 535 controls were included in these analyses (Kenya 142 cases, 75 controls; Bangladesh 216 cases, 279 controls; Philippines 238 cases, 180 controls. Case participants were more likely to be in the lowest quartile of per capita expenditure (PCE compared to controls in Kenya (odds ratio = 2.3, 95% confidence interval 0.9-5.5, Bangladesh (1.9, 1.1-3.2, and the Philippines (3.1, 1.7-5.7, and there was significant dose-response relationship across quartiles of PCE. These associations persisted after adjustment for self-rated health and social support indicators. A similar pattern was observed for the relationship between cataract visual impairment with asset ownership and self-rated wealth. There was no consistent pattern of association between PCE and level of visual impairment due to cataract, sex, or age among the three countries. CONCLUSIONS: Our data show that people with visual impairment due to cataract were poorer than those with normal sight in all three low-income countries studied. The MDGs are committed to the eradication of extreme

  18. Congenital and perinatal cytomegalovirus infection

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    Chun Soo Kim

    2010-01-01

    Full Text Available Cytomegalovirus (CMV is currently the most common agent of congenital infection and the leading infectious cause of brain damage and hearing loss in children. Symptomatic congenital CMV infections usually result from maternal primary infection during early pregnancy. One half of symptomatic infants have cytomegalic inclusion disease (CID, which is characterized by involvement of multiple organs, in particular, the reticuloendothelial and central nervous system (CNS. Moreover, such involvement may or may not include ocular and auditory damage. Approximately 90% of infants with congenital infection are asymptomatic at birth. Preterm infants with perinatal CMV infection can have symptomatic diseases such as pneumonia, hepatitis, and thrombocytopenia. Microcephaly and abnormal neuroradiologic imaging are associated with a poor prognosis. Hearing loss may occur in both symptomatic and asymptomatic infants with congenital infection and may progress through childhood. Congenital infection is defined by the isolation of CMV from infants within the first 3 weeks of life. Ganciclovir therapy can be considered for infants with symptomatic congenital CMV infection involving the CNS. Pregnant women of seronegative state should be counseled on the importance of good hand washing and other control measures to prevent CMV infection. Heat treatment of infected breast milk at 72?#608;for 5 seconds can eliminate CMV completely.

  19. [Femtosecond laser in cataract surgery. A critical appraisal].

    Science.gov (United States)

    Menapace, R M; Dick, H B

    2014-01-01

    The use of femtosecond lasers (FSL) is increasingly spreading in cataract surgery. Potential advantages over standard manual cataract surgery are the superior precision of corneal incisions and capsular openings as well as the reduction of ultrasound energy for lens nucleus work-up. Exact positioning and dimensioning of the anterior capsular opening should help reduce decentration and tilt of the intraocular lens (IOL) optics and thus achieve better target refraction. Together with the possibility to correct low-grade corneal astigmatism by precise arcuate incision, FSL technology is expected to convert cataract surgery from a purely curative into a refractive procedure. Apart from own experiences this review article critically analyses the pertinent literature published so far as well as congress presentations and personal reports of other FSL surgeons. The advantages and disadvantages are scrutinized with regard to their impact on the surgical and refractive results and compared with those experienced by the authors with manual cataract surgery over several decades. Economic and healthcare political aspects are also addressed. The use of FSL surgery improves the precision and reproducibility of corneal incisions and the capsular opening and reduces the amount of ultrasound energy required for lens nucleus work-up. However, the clinical benefits must be put into perspective due to the subsequent surgical manipulation of the incisions (during lens emulsification, aspiration and IOL injection), the lacking possibility to visualize the crystalline lens equator as the reference for correct capsulotomy centration and the relativity of ultrasound energy consumption on the corneal endothelial trauma. This is of particular relevance against the background of the significantly higher costs. Conversely, tears of the anterior capsule edge which, apart from interfering with correct IOL positioning, may entail serious complications presently occur more frequently with all FSL

  20. Sub-Tenon's anaesthesia versus topical anaesthesia for cataract surgery.

    Science.gov (United States)

    Guay, Joanne; Sales, Karl

    2015-08-27

    Local anaesthesia for cataract surgery can be provided by sub-Tenon's or topical anaesthesia. Both techniques offer possible advantages. This review, which originally was published in 2007 and was updated in 2014, was undertaken to compare these two anaesthetic techniques. Our objectives were to compare the effectiveness of topical anaesthesia (with or without intracameral local anaesthetic) versus sub-Tenon's anaesthesia in providing pain relief during cataract surgery. We reviewed pain during administration of anaesthesia, postoperative pain, surgical satisfaction with operating conditions and patient satisfaction with pain relief provided, and we looked at associated complications. We searched the Cochrane Central Register of Controlled Trials, MEDLINE and EMBASE (last search in November 2014) and the reference lists of published articles. We looked for conferences abstracts and trials in progress and placed no constraints on language or publication status. We included all randomized studies that compared sub-Tenon's anaesthesia versus topical anaesthesia for cataract surgery. We assessed trial quality and extracted data in the format allowing maximal data inclusion. We included eight studies in this updated review but could retain in the analysis only seven studies on 742 operated eyes of 617 participants. Two cross-over trials included 125 participants, and five parallel trials included 492 participants. These studies were published between 1997 and 2005. The mean age of participants varied from 71.5 years to 83.5 years. The female proportion of participants varied from 54% to 76%. Compared with sub-Tenon's anaesthesia, topical anaesthesia (with or without intracameral injection) for cataract surgery increases intraoperative pain but decreases postoperative pain at 24 hours. The amplitude of the effect (equivalent to 1.1 on a score from 0 to 10 for intraoperative pain, and to 0.2 on the same scale for postoperative pain at 24 hours), although statistically

  1. Phacoemulsification in eyes with cataract and pseudoexfoliation syndrome

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    Servet Cetinkaya

    2016-06-01

    Full Text Available AIM: To evaluate the visual outcomes and intraoperative and postoperative complications of phacoemulsification surgery in patients with cataract and pseudoexfoliation syndrome(PEXand the usage of proper surgical techniques and appropriate devices intraoperatively.METHODS: Sixty-seven eyes of 53 patients with PEX and cataract who had undergone phacoemulsification and intraocular lens(IOLimplantation surgery were evaluated retrospectively. The mean age was 71.68±9.96(53-89y, and there were 24(45%males and 29(55%females. Nuclear, cortical, posterior subcapsular, and mature cataracts were all represented.RESULTS: Nuclear cataract was significantly more common than other types(P=0.00. The mean preoperative best corrected visual acuity(BCVAwas 0.99±0.30(SD(0.40-1.50logMAR, and the mean postoperative BCVA was 0.32±0.31(SD(0.00-1.00logMAR(P=0.00. Iris retractors were used in 12(18%eyes. Capsular tension ring(CTRimplantation was used in 15(22%eyes, it was planned in 8(12%and unplanned in 7(10%. Posterior capsule rupture occurred in 4(6%eyes, and vitreous loss occurred in 2(3%eyes. Anterior vitrectomy was performed in these 2 eyes. Conversion to extracapsular cataract extraction(ECCEwas needed in these 2(3%eyes due to large posterior capsular rupture. Persistent corneal edema was observed in 4(6%eyes, and anterior chamber reaction in 5(7%eyes. IOL dislocation occurred in 4(6%eyes, but repositioning was only needed in 1(1.5%eye. Posterior capsule opacification(PCOrequiring Nd:YAG laser capsulotomy developed in 13(20%eyes.CONCLUSION: Postoperative visual acuities of patients with cataract and PEX are satisfactory. However, intraoperative and postoperative complications like posterior capsule rupture, vitreous loss, conversion to ECCE, persistent corneal edema, anterior chamber reaction and IOL dislocation may be observed. To avoid these complications, proper surgical techniques and the use of appropriate devices intraoperatively are essential.

  2. Strabismus and Nystagmus Following Cataract Surgeries in Childhood

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    Ayşe Yeşim Oral

    2012-03-01

    Full Text Available Pur po se: To evaluate the incidence of strabismus in pediatric cataracts and the effects of strabismus and nystagmus accompanied by cataract on postoperative visual acuity. Ma te ri als and Met hod: Seventy-four eyes of 45 patients under 15 years old who had undergone cataract operation were included in this study. The mean postoperative follow-up period was 1.57±2.25 years (ranged between 3 months and 9 years. Twenty-nine of the patients (64% had bilateral and 16 of the patients (36% had unilateral cataract. Preoperative and postoperative visual acuities, as well as the presence of nystagmus and strabismus were recorded. Re sults: Seventeen of the patients (38% had strabismus: 9 of them (53% had esotropia (ET, and 8 of them had (47% exotropia (XT. Fourteen (19% of the total number of cases had nystagmus. The mean age was 5.8±4.4 years for the total group of patients, 4.6±3.0 years for patients with strabismus and 5.1±3.7 years for patients with nystagmus. Visual acuity measurements were not possible in 26 uncooperative patients. The visual acuity was 0.3 logMAR and over in 15 (31% and 1.0 logMAR and under in 12 (25% of the remaining of 48 eyes. Of a total of 28 eyes with strabismus, we were unable to measure visual acuity in 10 patients, and the visual acuities were 0.3 logMAR and over in 7 (39% and 1.0 logMAR and under in 5 (28% of the rest of the 18 patients. The mean visual acuity was significantly lower in the 8 of 14 patients with nystagmus whose visual acuity could be measured (1.25±0.45 logMAR than in both the patients without strabismus (0.44±0.59 logMAR and the patients with strabismus (0.66±0.56 logMAR (p=0.019 and p=0.015, respectively. Dis cus si on: Although strabismus is seen more often in childhood cataracts compared to general population, the presence of strabismus has no negative effect on visual acuity after cataract surgery, while nystagmus is the main factor limiting the visual outcome. (Turk J Ophthalmol 2012; 42

  3. First and second eye cataract surgery and driver self-regulation among older drivers with bilateral cataract: a prospective cohort study.

    Science.gov (United States)

    Agramunt, Seraina; Meuleners, Lynn B; Fraser, Michelle L; Chow, Kyle C; Ng, Jonathon Q; Raja, Vignesh

    2018-02-17

    Driving a car is the most common form of transport among the older population. Common medical conditions such as cataract, increase with age and impact on the ability to drive. To compensate for visual decline, some cataract patients may self-regulate their driving while waiting for cataract surgery. However, little is known about the self-regulation practices of older drivers throughout the cataract surgery process. The aim of this study is to assess the impact of first and second eye cataract surgery on driver self-regulation practices, and to determine which objective measures of vision are associated with driver self-regulation. Fifty-five older drivers with bilateral cataract aged 55+ years were assessed using the self-reported Driving Habits Questionnaire, the Mini-Mental State Examination and three objective visual measures in the month before cataract surgery, at least one to three months after first eye cataract surgery and at least one month after second eye cataract surgery. Participants' natural driving behaviour in four driving situations was also examined for one week using an in-vehicle monitoring device. Two separate Generalised Estimating Equation logistic models were undertaken to assess the impact of first and second eye cataract surgery on driver-self-regulation status and which changes in visual measures were associated with driver self-regulation status. The odds of being a self-regulator in at least one driving situation significantly decreased by 70% after first eye cataract surgery (OR: 0.3, 95% CI: 0.1-0.7) and by 90% after second eye surgery (OR: 0.1, 95% CI: 0.1-0.4), compared to before first eye surgery. Improvement in contrast sensitivity after cataract surgery was significantly associated with decreased odds of self-regulation (OR: 0.02, 95% CI: 0.01-0.4). The findings provide a strong rationale for providing timely first and second eye cataract surgery for older drivers with bilateral cataract, in order to improve their mobility and

  4. Selenite cataract and its attenuation by vitamin E in wistar rats.

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    Mathew Joe

    2003-01-01

    Full Text Available Purpose: To study the role of vitamin E in preventing cataract formation in experimental animals. Methods: An experimental model (selenite cataract was selected for this study. Selenite cataract was produced in rats by subcutaneous administration of sodium selenite. Biochemical and histological changes following induction of selenite cataract in weanling wistar rats were studied vis-à-vis the role of vitamin E in attenuating or preventing cataractogenesis. Results: Vitamin E was capable of preventing selenite cataractogenesis. Selenite cataract did not develop in 91.6% (11 of 12 and 76.7% (8 of 12 vitamin E treated rats, when administered on the 12th and 10th post partum day respectively. Conclusion: The study confirmed that selenite induced cataract in wistar rats is attenuated by vitamin E.

  5. Increasing sustainable cataract services in sub-Saharan Africa: an experimental initiative

    Directory of Open Access Journals (Sweden)

    Sasipriya M Karumanchi

    2015-04-01

    Full Text Available To begin to meet the need for cataract surgery in sub-Saharan Africa, the cataract surgical rate (CSR should be at least 2,000 to 3,000; i.e. there should be 2,000-3,000 cataract operations per million population, per year. The current levels are below 1,000 (and often much lower. Sub-Saharan Africa poses a unique set of challenges: low population density; inadequate transportation systems that inhibit access; big differences in wealth; and a shortage of eye care resources (which are usually concentrated in larger cities. Additional issues relate to productivity, the supply chain and the quality of outcomes, all of which contribute to the low cataract surgical rates. It is in this context that the Hilton Foundation sought to enhance cataract surgical services in sub-Saharan Africa, through the Hilton Cataract Initiative.

  6. Congenital Short QT Syndrome

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    Charles Antzelevitch

    2004-04-01

    Full Text Available Long QT intervals in the ECG have long been associated with sudden cardiac death. The congenital long QT syndrome was first described in individuals with structurally normal hearts in 1957.1 Little was known about the significance of a short QT interval. In 1993, after analyzing 6693 consecutive Holter recordings Algra et al concluded that an increased risk of sudden death was present not only in patients with long QT interval, but also in patients with short QT interval (<400 ms.2 Because this was a retrospective analysis, further evaluation of the data was not possible. It was not until 2000 that a short-QT syndrome (SQTS was proposed as a new inherited clinical syndrome by Gussak et al.3 The initial report was of two siblings and their mother all of whom displayed persistently short QT interval. The youngest was a 17 year old female presenting with several episodes of paroxysmal atrial fibrillation requiring electrical cardioversion.3 Her QT interval measured 280 msec at a heart rate of 69. Her 21 year old brother displayed a QT interval of 272 msec at a heart rate of 58, whereas the 51 year old mother showed a QT of 260 msec at a heart rate of 74. The authors also noted similar ECG findings in another unrelated 37 year old patient associated with sudden cardiac death.

  7. Congenital hypothyroidism in neonates

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    Aneela Anjum

    2014-01-01

    Full Text Available Context: Congenital hypothyroidism (CH is one of the most common preventable causes of mental retardation in children and it occurs in approximately 1:2,000-1:4,000 newborns. Aims and Objectives: The aim of this study is to determine the frequency of CH in neonates. Settings and Design: This cross-sectional study was conducted in neonatal units of the Department of Pediatrics Unit-I, King Edward Medical University/Mayo Hospital, Lahore and Lady Willington Hospital Lahore in 6 months (January-June 2011. Materials and Methods: Sample was collected by non-probability purposive sampling. After consent, 550 newborn were registered for the study. Demographic data and relevant history was recorded. After aseptic measures, 2-3 ml venous blood analyzed for thyroid-stimulating hormone (TSH level by immunoradiometric assay. Treatment was started according to the individual merit as per protocol. Statistical Analysis Used: Data was analyzed by SPSS 17 and Chi-square test was applied to find out the association of CH with different variables. Results: The study population consisted of 550 newborns. Among 550 newborns, 4 (0.8% newborns had elevated TSH level. CH had statistically significant association with mother′s hypothyroidism (P value 0.000 and mother′s drug intake during the pregnancy period (P value 0.013. Conclusion: CH is 0.8% in neonates. It has statistically significant association with mother′s hypothyroidism and mother′s drug intake during pregnancy.

  8. Congenital coronary artery fistula

    International Nuclear Information System (INIS)

    Oh, Yeon Hee; Kim, Hong; Zeon, Seoc Kil; Suh, Soo Jhi

    1986-01-01

    Congenital coronary artery fistula (CCAF) is communication of a coronary artery or its main branch with one of the atria or ventricles, the coronary sinus, the superior vena cava, or the pulmonary artery. In Korean peoples, only 4 cases of the CCAF were reported as rare as worldwide and authors want to report another case of CCAF, confirmed by operation. 10-year-old girl shows a fistula between sinus node artery of the right coronary artery and right atrium on root aortogram with left-to-right shunt and Qp/Qs=1.58, in which simple ligation of the sinus node artery from right coronary artery was performed. All of the 5 Korean CCAF (4 were previously reported and 1 of authors) were originated from right coronary artery, and of which 4 were opening into right ventricle and 1 of authors were into right atrium. Associated cardiac anomaly was noted in only 1 case as single coronary artery. Ages were from 9 months of age to 10 years old and no adult left case were found. 3 were female and 2 were male patients.

  9. Congenital nephrotic syndrome.

    Science.gov (United States)

    Hamed, Radi Ma

    2003-01-01

    The congenital nephrotic syndrome (CNS) is an uncommon disorder with onset of the nephrotic syndrome usually in the first three months of life. Several different diseases may cause the syndrome. These may be inherited, sporadic, acquired or part of a general malformation syndrome. The clinical course is marked by failure to thrive, recurrent life threatening bacterial infections, and early death from sepsis and/or uremia. A characteristic phenotype may be seen in children with CNS. The majority of reported cases of CNS are of the Finnish type (CNF). Although the role of the glomerular basement membrane has been emphasized as the barrier for retaining plasma proteins, recent studies have clearly shown that the slit diaphragm is the structure most likely to be the barrier in the glomerular capillary wall. The gene (NPHS1) was shown to encode a novel protein that was termed nephrin, due to its specific location in the kidney filter barrier, where it seems to form a highly organized filter structure. Nephrin is a transmembrane protein that probably forms the main building block of an isoporous zipper-like slit diaphragm filter structure. Defects in nephrin lead to the abnormal or absent slit diaphragm resulting in massive proteinuria and renal failure.

  10. Congenital cystic lung malformations

    International Nuclear Information System (INIS)

    Stoever, B.; Scheer, I.; Bassir, C.; Chaoui, R.; Henrich, W.; Schwabe, M.; Wauer, R.

    2006-01-01

    Purpose: The aim of the study concerning congenital cystic lung malformations was to evaluate prenatal diagnoses postnatally to determine prognostic factors as well as to define optimized perinatal management. Materials and Methods: The study is based on 45 prenatal ultrasound examinations depicting fetal cystic lung lesions. 32 of the mothers had follow-up examinations. 5 pregnancies were terminated due to CCAM and additional malformations. Complete regression of the lesions was seen prenatally in 8 cases and postnatally in 5 children. Results: Surgical intervention due to respiratory insufficiency was necessary in 4 neonates. According to the imaging results, CCAM was present in 4 cases and sequestration in 7 patients. No correlation between the imaging findings and the surgical results was found in 3 children: One child suffered from rhadomyoid dysplasia, and in the case of the second child, a left-sided hernia of the diaphragm and additional sequestration were detected. The third child showed AV malformation. The cystic lesions of the 14 children operated upon were proven histologically. The degree of accuracy in the present study was high. Conclusion: Precise perinatal management is warranted in order to determine according to the clinical relevance surgical intervention and to prevent complications after the first year of life. This is performed during the neonatal period for respiratory insufficient neonates and within the first year of life for clinically stable children. (orig.)

  11. Congenital pulmonary lymphangiectasia

    Directory of Open Access Journals (Sweden)

    Campisi Corradino

    2006-10-01

    Full Text Available Abstract Congenital pulmonary lymphangiectasia (PL is a rare developmental disorder involving the lung, and characterized by pulmonary subpleural, interlobar, perivascular and peribronchial lymphatic dilatation. The prevalence is unknown. PL presents at birth with severe respiratory distress, tachypnea and cyanosis, with a very high mortality rate at or within a few hours of birth. Most reported cases are sporadic and the etiology is not completely understood. It has been suggested that PL lymphatic channels of the fetal lung do not undergo the normal regression process at 20 weeks of gestation. Secondary PL may be caused by a cardiac lesion. The diagnostic approach includes complete family and obstetric history, conventional radiologic studies, ultrasound and magnetic resonance studies, lymphoscintigraphy, lung functionality tests, lung biopsy, bronchoscopy, and pleural effusion examination. During the prenatal period, all causes leading to hydrops fetalis should be considered in the diagnosis of PL. Fetal ultrasound evaluation plays a key role in the antenatal diagnosis of PL. At birth, mechanical ventilation and pleural drainage are nearly always necessary to obtain a favorable outcome of respiratory distress. Home supplemental oxygen therapy and symptomatic treatment of recurrent cough and wheeze are often necessary during childhood, sometimes associated with prolonged pleural drainage. Recent advances in intensive neonatal care have changed the previously nearly fatal outcome of PL at birth. Patients affected by PL who survive infancy, present medical problems which are characteristic of chronic lung disease.

  12. DEPLOYMENT OF SIX SIGMA METHODOLOGY IN PHACOEMULSIFICATION CATARACT SURGERY

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    Ibrahim SAHBAZ

    2014-04-01

    Full Text Available The purpose of this study is to show how a public eye care center in Turkey initiated Six Sigma principles to reduce the number of complications encountered during and after phacoemulsification cataract surgeries. To analyze the 3-year data, main tools of Six Sigma’s Define-Measure-Analyze-Improve-Control (DMAIC improvement cycle such as SIPOC table, Fishbone Diagram and, Failure, Mode and Effect Analysis were implemented. Experience of the ophthalmic surgeon, patient’s anatomy, cooperation of patient during the surgery, sterilization and hygiene, attention of assistant surgeon, calibration of equipment and quality/chemical composition of intraocular material were identified to be Critical-to-Quality (CTQ factors for a successful phacoemulsification cataract surgery. The most frequently occurring complication was found to be iris atrophy. The process sigma level for the process was found to be 3.958.

  13. Aspiration of radiation cataract in children of retinoblastoma

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    Kawashima, Hidetoshi; Minoda, Kensei.

    1985-01-01

    We operated on the radiation cataracts of 12 retinoblastoma patients who had been treated by conservative therapeutic means including radiation, cryoapplication, photocoagulation, and cytostatic agents. Before the surgery, we checked that the tumor had disappeared or scarred by means of CT-scan, Ultrasonography, X-ray, and so on. Visual acuity of 1.0 or more was retained in two eyes (17 %). Four eyes (33 %) retained visual acuity of 0.6-0.4, one eye (8 %) retained 0.1 and the remaining five eyes (42 %) had visual acuity of less than 0.1. We experienced no serious complications during or after the surgeries. The reason for poorer visual acuity was either macular involvement of the tumor or radiation retinopathy due to larger dosis of radiation. Therefore, we conclude that aspiration of radiation cataract is an effective treatment of retinoblastoma patients after the tumor has disappeared or scarred. (author)

  14. Sodium 4-phenylbutyrate ameliorates the effects of cataract-causing mutant gammaD-crystallin in cultured cells.

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    Gong, Bo; Zhang, Li-Yun; Lam, Dennis Shun-Chiu; Pang, Chi-Pui; Yam, Gary Hin-Fai

    2010-06-04

    gammaD-Crystallin (CRYGD) is a major structural lens crystallin and its mutations result in congenital cataract formation. In this study, we attempted to correct the altered protein features of G165fsX8 CRYGD protein with small chemical molecules. Recombinant FLAG-tagged mutants (R15C, R15S, P24T, R61C, and G165fsX8) of CRYGD were expressed in COS-7 cells and treated with small chemical molecules with reported protein chaperoning properties (sodium 4-phenylbutyrate [4-PBA], trimethylamine N-oxide [TMAO], and glycerol and DMSO [DMSO]). Protein solubility in 0.5% Triton X-100 and subcellular distribution was examined by western blotting and immunofluorescence, respectively. Apoptosis was assayed as the percentage of fragmented nuclei in transfected cells. Expression of heat-shock proteins (Hsp70 and Hsp90) was examined by reverse transcription-polymerase chain reaction analysis. Unlike WT and most mutants (R15C, R15S, P24T, and R61C) of CRYGD, G165fsX8 CRYGD was significantly insoluble in 0.5% Triton X-100. This insolubility was alleviated by dose-dependent 4-PBA treatment. The treatment relieved the mislocalization of G165fsX8 CRYGD from the nuclear envelope. Also, 4-PBA treatment reduced cell apoptosis and caused an upregulation of Hsp70. 4-PBA treatment reduced the defective phenotype of mutant G165fsX8 CRYGD and rescued the affected cells from apoptosis. This could be a potential treatment for lens structural protein and prevent lens opacity in cataract formation.

  15. Visual outcome and impact on quality of life after surgeries differ in children operated for unilateral and bilateral cataract (Pune study 2011

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    Mukesh Paryani

    2012-01-01

    Conclusion: Vision and VQL improved in children with unilateral and bilateral cataract. However, it was better 6 months following surgery in children with bilateral cataract than in children with unilateral cataract.

  16. Is ultrasonography essential before surgery in eyes with advanced cataracts?

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    Salman Amjad

    2006-01-01

    Full Text Available Background: Ultrasonography is an important tool for evaluating the posterior segment in eyes with opaque media. Aim: To study the incidence of posterior segment pathology in eyes with advanced cataract and to see whether certain features could be used as predictors for an abnormal posterior segment on ultrasound. Setting: Tertiary care hospital in South India. Methods and Materials: In this prospective study conducted over a 6-month period, all eyes with dense cataracts precluding visualization of fundus underwent assessment with ultrasound. Presence of certain patient and ocular "risk" factors believed to be associated with a higher incidence of abnormal posterior segment on ultrasound were looked for and the odds ratio (OR for posterior segment pathology in these eyes was calculated. Results: Of the 418 eyes assessed, 36 eyes (8.6% had evidence of posterior segment pathology on ultrasound. Retinal detachment (17 eyes; 4.1% was the most frequent abnormality detected. Among patient features, diabetes mellitus (OR= 4.9, P=0.003 and age below 50 years (OR= 15.4, P=0.001 were associated with a high incidence of abnormal ultrasound scans. In ocular features, posterior synechiae (OR= 20.2, P=0.000, iris coloboma (OR= 34.6, P=0.000, inaccurate projection of rays (OR= 15.1, P=0.002, elevated intraocular pressure (OR= 15.1, P=0.004, and keratic precipitates (OR= 22.4, P=0.004 were associated with high incidence of posterior segment pathology. Only four eyes (1.5% without these features had abnormal posterior segment on ultrasonography. Conclusions: Certain patient and ocular features are indicative of a high risk for posterior segment pathology and such patients should be evaluated by ultrasonography prior to cataract surgery. In the absence of these risk factors, the likelihood of detecting abnormalities on preoperative ultrasonography in eyes with advanced cataracts is miniscule.

  17. Results of endocapsular phacofracture debulking of hard cataracts.

    Science.gov (United States)

    Davison, James A

    2015-01-01

    To present a phacoemulsification technique for hard cataracts and compare postoperative results using two different ultrasonic tip motions during quadrant removal. A phacoemulsification technique which employs in situ fracture and endocapsular debulking for hard cataracts is presented. The prospective study included 56 consecutive cases of hard cataract (LOCS III NC [Lens Opacification Classification System III, nuclear color], average 4.26), which were operated using the Infiniti machine and the Partial Kelman tip. Longitudinal tip movement was used for sculpting for all cases which were randomized to receive longitudinal or torsional/interjected longitudinal (Intelligent Phaco [IP]) strategies for quadrant removal. Measurements included cumulative dissipated energy (CDE), 3 months postoperative surgically induced astigmatism (SIA), and corneal endothelial cell density (ECD) losses. No complications were recorded in any of the cases. Respective overall and longitudinal vs IP means were as follows: CDE, 51.6±15.6 and 55.7±15.5 vs 48.6±15.1; SIA, 0.36±0.2 D and 0.4±0.2 D vs 0.3±0.2 D; and mean ECD loss, 4.1%±10.8% and 5.9%±13.4% vs 2.7%±7.8%. The differences between longitudinal and IP were not significant for any of the three categories. The endocapsular phacofracture debulking technique is safe and effective for phacoemulsification of hard cataracts using longitudinal or torsional IP strategies for quadrant removal with the Infiniti machine and Partial Kelman tip.

  18. The Hereditary Hyperferritinemia-Cataract Syndrome in 2 Italian Families

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    Katia Perruccio

    2013-01-01

    Full Text Available Two 8- and 9-year-old brothers were referred to the Pediatric Oncology Unit, Perugia General Hospital, because of hyperferritinemia. Both had a history of bilateral cataract and epilepsy. Genetic investigation revealed two distinct mutations in iron haemostasis genes; homozygosity for the HFE gene H63D mutation in the younger and heterozygosity in the elder. Both displayed heterozygosity for C33T mutation in the ferritin light chain iron response element. A 7-year-old boy from another family was referred to our unit because of hyperferritinemia. Genetic analyses did not reveal HFE gene mutations. Family history showed that his mother was also affected by hyperferritinemia without HFE gene mutations. Magnetic resonance imaging in the mother was positive for iron overload in the spleen. Cataract was diagnosed in mother and child. Further genetic investigation revealed the C29G mutation of the ferritin light chain iron response element. C33T and C29G mutations in the ferritin light chain iron response element underlie the Hereditary Hyperferritinemia-Cataract Syndrome (HHCS. The HFE gene H63D mutation underlies Hereditary Haemochromatosis (HH, which needs treatment to prevent organ damages by iron overload. HHCS was definitively diagnosed in all three children. HHCS is an autosomal dominant disease characterized by increased L-ferritin production. L-Ferritin aggregates accumulate preferentially in the lens, provoking bilateral cataract since childhood, as unique known organ damage. Epilepsy in one case and the spleen iron overload in another could suggest the misleading diagnosis of HH. Consequently, the differential diagnosis between alterations of iron storage system was essential, particularly in children, and required further genetic investigation.

  19. Argon laser photocoagulation of cyclodialysis clefts after cataract surgery

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    Bauer, B. [Univ. of Lund, Dept. of Ophthalmology, Lund (Sweden)

    1995-06-01

    Three patients with cyclodialysis clefts, hypotony and hypotonic retinopathy subsequent to cataract surgery were treated with argon laser photocoagulation. The hypotony was reversed in each patient and their visual acuity was normalized. Laser photocoagulation is a noninvasive treatment that can be repeated easily and safely. The complications of the treatment are minor. A hypertensive episode commonly occurs in the early postoperative period. (au) 8 refs.

  20. Posterior vitreous detachment and retinal detachment after cataract surgery.

    Science.gov (United States)

    Ripandelli, Guido; Coppé, Andrea Maria; Parisi, Vincenzo; Olzi, Diego; Scassa, Cecilia; Chiaravalloti, Adele; Stirpe, Mario

    2007-04-01

    To evaluate possible changes of vitreous status in emmetropic eyes after uneventful phacoemulsification surgery, and possible related complications such as the onset of retinal detachment (RD). Retrospective case series. Four hundred fifty-three emmetropic eyes from 453 patients (mean age, 62.03+/-5.57 years) subjected to uneventful phacoemulsification with intraocular lens implantation in the capsular bag were considered in the study. They had a refractive error within +/-0.5 diopters (mean, -0.21+/-0.08). Eyes with peripheral retinal lattice degeneration were included only if asymptomatic and only if the degeneration involved one retinal quadrant. After cataract surgery, the 453 eyes were evaluated preoperatively at days 1, 15, and 30 and months 3, 6, 12, 18, 24, 36, 48, and 60. The whole period of follow-up was 5 years. Evaluation of vitreous status by biomicroscopic examination, indirect binocular ophthalmoscopy, and B-scan ultrasonography. Postoperative onset of posterior vitreous detachment (PVD) and RD. After cataract surgery, a PVD occurred in 107 of 141 (75.88%) eyes without preoperative PVD or lattice degeneration. Posterior vitreous detachment occurred in 41 of 47 eyes (87.23%) with preoperative lattice degeneration and no PVD. Eyes with preoperative lattice degeneration and postoperative PVD showed a higher incidence of RD after cataract surgery (21.27%) than eyes without preoperative PVD or lattice degeneration (0.70%). In all patients with lattice degeneration, RD originated from horseshoe retinal tears on lattice areas located on the superior quadrants. No correlation was observed between the development of RD and age. Our results suggest that the onset of postoperative PVD should be considered an important risk factor for the development of RD after cataract surgery, particularly in eyes with lattice areas.