Full Text Available Cytomegalovirus congenital infection is an infection caused by the the subfamily Ã¢ 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.
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
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.
Komori, Tetsuo; Nagashima, Toshiko; Hirose, Kazuhiko; Tanabe, Hitoshi; Tsubaki, Tadao
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)
Mansouri, Behzad; Stacy, Rebecca C; Kruger, Joshua; Cestari, Dean M
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.
Gelatt, K N; Samuelson, D A; Bauer, J E; Das, N D; Wolf, E D; Barrie, K P; Andresen, T L
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).
Zhang, D D; Du, J Z; Topolewski, J; Wang, X M
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.
Khokhar, Sudarshan; Jose, Cijin P; Sihota, Ramanjit; Midha, Neha
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.
Soo Jung Lee
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.
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.
... 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 ...
Dave, Hreem; Phoenix, Vidya; Becker, Edmund R.; Lambert, Scott R.
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
Mets, Rebecca B; Emery, Sarah B; Lesperance, Marci M; Mets, Marilyn B
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.
Zhuang, Xiaotong; Wang, Lianqing; Song, Zixun; Xiao, Wei
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.
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.
Wang, Kai Jie; Li, Sha Sha; Yun, Bo; Ma, Wen Xian; Jiang, Tian Ge; Zhu, Si Quan
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.
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.
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.
Narumi, Yoko; Nishina, Sachiko; Tokimitsu, Motoharu; Aoki, Yoko; Kosaki, Rika; Wakui, Keiko; Azuma, Noriyuki; Murata, Toshinori; Takada, Fumio; Fukushima, Yoshimitsu; Kosho, Tomoki
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.
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.
Hansen, Lars; Mikkelsen, Annemette; Nürnberg, Peter
, 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...
Gelatt, K N; Samuelson, D A; Barrie, K P; Das, N D; Wolf, E D; Bauer, J E; Andresen, T L
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.
Tripathi, B J; Tripathi, R C; Borisuth, N S; Dhaliwal, R; Dhaliwal, D
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.
Hansen, Lars; Yao, Wenliang; Eiberg, Hans
"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...
Chen, Qiang; Ma, Junjie; Yan, Ming; Mothobi, Maneo Emily; Liu, Yuanyuan; Zheng, Fang
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.
Birch, Eileen E.; Cheng, Christina; Christina, V; Stager, David R.
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
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.
Magwebu, Zandisiwe E; Abdul-Rasool, Sahar; Seier, Jürgen V; Chauke, Chesa G
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.
Naz, Shagufta; Sharif, Saima; Badar, Hafsa; Rashid, Farzana; Kaleem, Afshan; Iqtedar, Mehwish
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..
Dave, Hreem; Phoenix, Vidya; Becker, Edmund R; Lambert, Scott R
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.
Zhai, Yi; Li, Jinyu; Zhu, Yanan; Xia, Yan; Wang, Wei; Yu, Yinhui; Yao, Ke
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.
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.
... 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 ...
Giordano, Gabriel Gorgone; Tavares, Anderson; da Silva, Márcio José; de Vasconcellos, José Paulo Cabral; Arieta, Carlos Eduardo Leite; de Melo, Mônica Barbosa
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
Yao, Ke; Jin, Chongfei; Zhu, Ning; Wang, Wei; Wu, Renyi; Jiang, Jin; Shentu, Xingchao
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.
Niphon Chirapapaisan, M.D.
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.
Thanaa H Mohamed
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.
Fayol, Laurence; Garcia, Patricia; Denis, Danièle; Philip, Nicole; Simeoni, Umberto
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.
Yang, Jing; Zhou, Sheng; Guo, Minfei; Li, Yuting; Gu, Jianjun
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.
... 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 ...
Dad, S.; Østergaard, Elsebet; Thykjær, T.
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...
Dad, S; Østergaard, E; Thykjaer, T; Albrectsen, A; Ravn, K; Rosenberg, T; Møller, L B
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.
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
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
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.
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.
Parikshit M Gogate
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.
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.
Nissen, Steffen; Schrøder, H D
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....
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.
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
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.
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.
Rossi, A.; Biancheri, R.; Zara, F.; Bruno, C.; Uziel, G.; van der Knaap, M.S.; Minetti, C.; Tortori-Donati, P.
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.
Musleh, Mohammud; Ashworth, Jane; Black, Graeme; Hall, Georgina
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.
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.
Recognised syndromes were seen in 69(68%) cases. Down syndrome with 54 children contributed 78.3% of those with known syndromes. Other identified syndromes and associations were Marfan's, Noonan's, Edwards, Prune Belly, Apert, Ellis-van creveld syndrome and congenital rubella syndrome. Congenital heart ...
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.
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.
Reches, Adi; Yaron, Yuval; Burdon, Kathryn; Crystal-Shalit, Ornit; Kidron, Dvora; Malcov, Mira; Tepper, Ron
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.
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.
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
“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
Caça, Ihsan; Sahin, Alparslan; Cingü, Abdullah Kürsat; Ari, Seyhmus; Alakuş, Fuat; Cinar, Yasin
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.
Komori, Tetsuo; Nagashima, Toshiko; Hirose, Kazuhiko; Tanabe, Hitoshi; Tsubaki, Tadao
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.
Denion, E; Dedes, V; Bonne, M; Labalette, P; Berger, C; Guilbert, F; Bouckehove, S; Rouland, J-F
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.
Yao, Ke; Wang, Wei; Zhu, Yanan; Jin, Chongfei; Shentu, Xingchao; Jiang, Jin; Zhang, Yidong; Ni, Shuang
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.
Hwang, Sungsoon; Lim, Dong Hui; Lee, Soomin; Choi, Daye Diana; Chung, Eui-Sang; Chung, Tae-Young
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.
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.
Lourdes R Hernández Santos
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
Zlatareva, D.; Penev, L.; Hadjidekov, V.; Chamova, T.; Guergeltcheva, V.; Tournev, I.; Tournev, I.; Bojinova, V.; Kaprelian, A.; Tzoneva, D.
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)
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).
Gizzi, Corrado; Mohamed-Noriega, Jibran; Murdoch, Ian
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.
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.
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.
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
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.
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."
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.
Zhang, R L; Samuelson, D A; Zhang, Z G; Reddy, V N; Shastry, B S
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.
Shastry, B S; Reddy, V N
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.
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
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.
... 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 ...
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.
Zheng, Jian-qiu; Liu, Ping; Wang, Jian-wen; Liu, Jian-ju
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.
Francis, P J; Berry, V; Hardcastle, A J; Maher, E R; Moore, A T; Bhattacharya, S S
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.
Satish D. Shet
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
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.
... 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 ...
Marina Soares Viegas Moura Rezende
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 .
Kawada, Jun-ichi; Torii, Yuka; Kawano, Yoshihiko; Suzuki, Michio; Kamiya, Yasuko; Kotani, Tomomi; Kikkawa, Fumitaka; Kimura, Hiroshi; Ito, Yoshinori
Congenital cytomegalovirus (CMV) infection is the most common non-genetic cause of sensorineural hearing loss (SNHL) in children. However, congenital SNHL without other clinical abnormalities is rarely diagnosed as CMV-related in early infancy. The aim of this study was to identify and treat patients with congenital CMV-related SNHL or CMV-related clinical abnormalities other than SNHL. The association between CMV load and SNHL was also evaluated. Newborns who had abnormal hearing screening results or other clinical abnormalities were screened for congenital CMV infection by PCR of saliva or urine specimens, and identified infected patients were treated with valganciclovir (VGCV) for 6 weeks. The CMV load of patients with or without SNHL was compared at regular intervals during as well as after VGCV treatment. Of 127 infants with abnormal hearing screening results, and 31 infants with other clinical abnormalities, CMV infection was identified in 6 and 3 infants, respectively. After VGCV treatment, 1 case had improved hearing but the other 5 SNHL cases had little or no improvement. Among these 9 patients with or without SNHL at 1 year of age, there was no significant difference in CMV blood or urine load at diagnosis, but both were significantly higher in patients with SNHL during VGCV treatment. Selective CMV screening of newborns having an abnormal hearing screening result would be a reasonable strategy for identification of symptomatic congenital CMV infection. Prolonged detection of CMV in blood could be a risk factor for SNHL. Copyright © 2015 Elsevier B.V. All rights reserved.
Merixy Charón Milián
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
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 ...
Marcia Caires Bestilleiro Lopes
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
Schein, Oliver D; Cassard, Sandra D; Tielsch, James M; Gower, Emily W
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.
... 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 ...
Yang, Zhenfei; Su, Dongmei; Li, Qian; Ma, Zicheng; Yang, Fan; Zhu, Siquan; Ma, Xu
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.
Yang, Zhenfei; Su, Dongmei; Li, Qian; Yang, Fan; Ma, Zicheng; Zhu, Siquan; Ma, Xu
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.
Lewis, R A; Nussbaum, R L; Stambolian, D
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.
... 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 ...
Nevin, N C; McDonald, J R; Walby, A L
The efficiency of two systems for recording congenital malformations has been compared; one system, the Registrar General's Congenital Malformation Notification, is based on registering all malformed infants, and the other, the Child Health System, records all births. In Northern Ireland for three years [1974--1976], using multiple sources of ascertainment, a total of 686 infants with neural tube defects was identified among 79 783 live and stillbirths. The incidence for all neural tube defects in 8 60 per 1 000 births. The Registrar General's Congenital Malformation Notification System identified 83.6% whereas the Child Health System identified only 63.3% of all neural tube defects. Both systems together identified 86.2% of all neural tube defects. The two systems are suitable for monitoring of malformations and the addition of information from the Genetic Counselling Clinics would enhance the data for epidemiological studies.
Titelbaum, D.S.; Grossman, R.I.; Lloyd, W.C.; Cohen, E.J.; Atlas, S.W.
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
Marcia Beatriz Tartarella
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
Crowe, Sonya; Knowles, Rachel; Wray, Jo; Tregay, Jenifer; Ridout, Deborah A; Utley, Martin; Franklin, Rodney; Bull, Catherine L; Brown, Katherine L
Many infants die in the year following discharge from hospital after surgical or catheter intervention for congenital heart disease (3-5% of discharged infants). There is considerable variability in the provision of care and support in this period, and some families experience barriers to care. We aimed to identify ways to improve discharge and postdischarge care for this patient group. A systematic evidence synthesis aligned with a process of eliciting the perspectives of families and professionals from community, primary, secondary and tertiary care. UK. A set of evidence-informed recommendations for improving the discharge and postdischarge care of infants following intervention for congenital heart disease was produced. These address known challenges with current care processes and, recognising current resource constraints, are targeted at patient groups based on the number of patients affected and the level and nature of their risk of adverse 1-year outcome. The recommendations include: structured discharge documentation, discharging certain high-risk patients via their local hospital, enhanced surveillance for patients with certain (high-risk) cardiac diagnoses and an early warning tool for parents and community health professionals. Our recommendations set out a comprehensive, system-wide approach for improving discharge and postdischarge services. This approach could be used to address challenges in delivering care for other patient populations that can fall through gaps between sectors and organisations. 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/
Sanna-Cherchi, Simone; Khan, Kamal; Westland, Rik; Krithivasan, Priya; Fievet, Lorraine; Rasouly, Hila Milo; Ionita-Laza, Iuliana; Capone, Valentina P; Fasel, David A; Kiryluk, Krzysztof; Kamalakaran, Sitharthan; Bodria, Monica; Otto, Edgar A; Sampson, Matthew G; Gillies, Christopher E; Vega-Warner, Virginia; Vukojevic, Katarina; Pediaditakis, Igor; Makar, Gabriel S; Mitrotti, Adele; Verbitsky, Miguel; Martino, Jeremiah; Liu, Qingxue; Na, Young-Ji; Goj, Vinicio; Ardissino, Gianluigi; Gigante, Maddalena; Gesualdo, Loreto; Janezcko, Magdalena; Zaniew, Marcin; Mendelsohn, Cathy Lee; Shril, Shirlee; Hildebrandt, Friedhelm; van Wijk, Joanna A E; Arapovic, Adela; Saraga, Marijan; Allegri, Landino; Izzi, Claudia; Scolari, Francesco; Tasic, Velibor; Ghiggeri, Gian Marco; Latos-Bielenska, Anna; Materna-Kiryluk, Anna; Mane, Shrikant; Goldstein, David B; Lifton, Richard P; Katsanis, Nicholas; Davis, Erica E; Gharavi, Ali G
Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome sequencing in 202 case subjects with RHD and identified diagnostic mutations in genes known to be associated with RHD in 7/202 case subjects. In an additional affected individual with RHD and a congenital heart defect, we found a homozygous loss-of-function (LOF) variant in SLIT3, recapitulating phenotypes reported with Slit3 inactivation in the mouse. To identify genes associated with RHD, we performed an exome-wide association study with 195 unresolved case subjects and 6,905 control subjects. The top signal resided in GREB1L, a gene implicated previously in Hoxb1 and Shha signaling in zebrafish. The significance of the association, which was p = 2.0 × 10 -5 for novel LOF, increased to p = 4.1 × 10 -6 for LOF and deleterious missense variants combined, and augmented further after accounting for segregation and de novo inheritance of rare variants (joint p = 2.3 × 10 -7 ). Finally, CRISPR/Cas9 disruption or knockdown of greb1l in zebrafish caused specific pronephric defects, which were rescued by wild-type human GREB1L mRNA, but not mRNA containing alleles identified in case subjects. Together, our study provides insight into the genetic landscape of kidney malformations in humans, presents multiple candidates, and identifies SLIT3 and GREB1L as genes implicated in the pathogenesis of RHD. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
Wilcox, Lyndy J; He, Kaidi; Derkay, Craig S
Approximately 4% of the population fails to develop basic music skills and can be identified as "amusic". Congenital amusia (CA), or "tone deafness", is thought to be a hereditary disordera predominantly affecting the perception and production of music. The gold standard for diagnosis is the Montreal Battery for Evaluation of Amusia (MBEA). This study aims to pinpoint factors in the history that may help identify amusic children and to determine if amusic pediatric patients can be identified using a widely available, shorter test validated in adults. Subjects ages 7-17 years were recruited to take an online test, validated against the MBEA, for CA. The sections tested recognition of "off-beat" (OB), "mistuned" (MT), and "out-of-key" (OOK) conditions. Parents filled out a questionnaire regarding the subject's past medical, educational, musical exposure, and family history. Of 114 subjects recruited, complete data was available on 105 with a mean age of 12.5 years. According to adult criteria, 63/105 (60%) of subjects scored in the "amusic" range. Children >10 years of age scored significantly higher on the off-beat section (p=0.001) and total scores (p=0.025). Subjects who were born prematurely scored significantly lower (p=0.045). Children whose father had difficulties with music scored significantly lower on the off-beat section (p=0.003) and total scores (p=0.008). CA is a disorder that has implications for quality of life. Earlier identification may help elucidate the pathogenesis of the condition and, in the future, the institution of prompt treatment. Further studies are needed to identify the most appropriate and convenient tests, as well as the optimal timing of testing, for reliably diagnosing CA in children. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.
Varun B Gupta
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.
... 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 ...
Eric C Beyer
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.
Full Text Available Abstract Background Congenital adrenal hyperplasia (CAH is a group of autosomal recessive disorders caused by defects in the steroid 21 hydroxylase gene (CYP21A2. We studied the spectrum of mutations in CYP21A2 gene in a multi-ethnic population in Pakistan to explore the genetics of CAH. Methods A cross sectional study was conducted for the identification of mutations CYP21A2 and their phenotypic associations in CAH using ARMS-PCR assay. Results Overall, 29 patients were analyzed for nine different mutations. The group consisted of two major forms of CAH including 17 salt wasters and 12 simple virilizers. There were 14 phenotypic males and 15 females representing all the major ethnic groups of Pakistan. Parental consanguinity was reported in 65% cases and was equally distributed in the major ethnic groups. Among 58 chromosomes analyzed, mutations were identified in 45 (78.6% chromosomes. The most frequent mutation was I2 splice (27% followed by Ile173Asn (26%, Arg 357 Trp (19%, Gln319stop, 16% and Leu308InsT (12%, whereas Val282Leu was not observed in this study. Homozygosity was seen in 44% and heterozygosity in 34% cases. I2 splice mutation was found to be associated with SW in the homozygous. The Ile173Asn mutation was identified in both SW and SV forms. Moreover, Arg357Trp manifested SW in compound heterozygous state. Conclusion Our study showed that CAH exists in our population with ethnic difference in the prevalence of mutations examined.
Catarata congênita: aspectos diagnósticos, clínicos e cirúrgicos em pacientes submetidos a lensectomia Congenital cataract: diagnostic, clinic and surgical features in patients submitted to lensectomy
Márcia Lima Santos Oliveira
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
Kammoun, Molka; Brady, Paul; De Catte, Luc; Deprest, Jan; Devriendt, Koenraad; Vermeesch, Joris Robert
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.
Ivanov, G; Cuşnir, V; Septichina, Natalia; Cuşnir, Vitalie
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.
Bergman, Gunnar; Hærskjold, Ann; Stensballe, Lone Graff
BACKGROUND: Epidemiological research is facilitated in Sweden by a history of national health care registers, making large unselected national cohort studies possible. However, for complex clinical populations, such as children with congenital heart disease (CHD), register-based studies...... are challenged by registration limitations. For example, the diagnostic code system International Classification of Diseases, 10th version (ICD-10) does not indicate the clinical significance of abnormalities, therefore may be of limited use if used as the sole parameter in epidemiological research. Palivizumab...
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
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.
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
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.
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
Choi, Sun Seob; Kim, Yang Soo; Lee, Kwan Seh; Kim, Kun Sang
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
Kessel, Line; Andresen, Jens; Erngaard, Ditte
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...
Matthews, Andrew G
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.
Stambolian, D; Favor, J; Silvers, W; Avner, P; Chapman, V; Zhou, E
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.
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 ...
Santana, Alessandro; Koller, Karine; Waiswol, Mauro
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...
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.
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.
Emer, Caroline Soares Cristofari; Duque, Julio Alejandro Peña; Müller, Ana Lúcia Letti; Gus, Rejane; Sanseverino, Maria Teresa Vieira; da Silva, André Anjos; Magalhães, José Antonio de Azevedo
To describe the prevalence of malformations found in fetuses with trisomy of chromosomes 13, 18 and 21 by identifying the most frequent within each condition. A retrospective cross-sectional study with the analysis of trisomy cases of chromosomes 13, 18 and 21 diagnosed through fetal karyotype obtained by amniocentesis/cordocentesis, between October 1994 and May 2014, at a Teaching Hospital in Brazil Southern Region. Malformations identified through morphological ultrasonography were described and, subsequently, confirmed in newborn examinations and/or fetal autopsy. The results were analyzed using Fisher's test and analysis of variance (ANOVA), with a 5% level of significance (p=0.05). Sixty-nine cases of trisomy were diagnosed among 840 exams; nine were excluded due to outcome outside Hospital de Clínicas de Porto Alegre or incomplete records, remaining 60 cases (nine cases of chromosome 13 trisomy, 26 of chromosome 18, and 25 of chromosome 21). In all three groups, heart disease occurred in most cases; the ventricular septal defect was more prevalent and occurred in 66.7% of the trisomy 13 group. Gastrointestinal abnormalities were more prevalent in the trisomy 18 group, especially omphalocele (38.5%; pmalformations significantly differed among the trisomy groups. Hand defects occurred in 50% of trisomy 18 cases, and in 44.4% of all trisomy 13 cases (pmalformations identified at ultrasound are suggestive of trisomy and represent an important tool for etiologic diagnosis and prenatal and pre-conception genetic counseling.
Farooq, F.B.; Sultan, S.T.
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)
Haricharan, Ramanath N; Barnhart, Douglas C; Cheng, Hong; Delzell, Elizabeth
The purpose of this study was to identify mortality risk factors in children with congenital diaphragmatic hernia (CDH) treated with extracorporeal membrane oxygenation (ECMO) and generate a prediction score for those at a very high risk for mortality. Data on first ECMO runs of all neonates with CDH, between January 1997 and June 2007, were obtained from the Extracorporeal Life Support Organization registry (N = 2678). The data were split into "training data (TD)" (n = 2006) and "validation data" (n = 672). The primary outcome analyzed was in-hospital mortality. Modified Poisson regression was used for analyses. Overall in-hospital mortality among 2678 neonates (males, 57%; median age at ECMO, 1 day) was 52%. The univariate and multivariable analyses were performed using TD. An empirically weighted mortality prediction score was generated with possible scores ranging from 0 to 35 points. Of 69 who scored 14 or higher in the TD, 62 died (positive predictive value [PPV], 90%), of 37 with 15 or higher, 35 died (PPV, 95%), of 23 with 16 or higher, 22 died (PPV, 96%). A cut-off point of 15 was chosen and was tested using the separate validation dataset. In validation data, the cut-off point 15 had a PPV of 96% (23 died of 24). Scoring 15 or higher on the prediction score identifies neonates with CDH at a very high risk for mortality among those managed with ECMO and could be used in surgical decision making and counseling.
Bones, Oliver; Wong, Patrick C M
Amusia is a pitch perception disorder associated with deficits in processing and production of both musical and lexical tones, which previous reports have suggested may be constrained to fine-grained pitch judgements. In the present study speakers of tone-languages, in which lexical tones are used to convey meaning, identified words present in chimera stimuli containing conflicting pitch-cues in the temporal fine-structure and temporal envelope, and which therefore conveyed two distinct utterances. Amusics were found to be more likely than controls to judge the word according to the envelope pitch-cues. This demonstrates that amusia is not associated with fine-grained pitch judgements alone, and is consistent with there being two distinct pitch mechanisms and with amusics having an atypical reliance on a secondary mechanism based upon envelope cues. Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.
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.)
Haargaard, Birgitte; Andersen, Elisabeth W; Oudin, Anna
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...
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.
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
Rosa María Naranjo Fernández
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.
Nag, Nabanita; Peterson, Katherine; Wyatt, Keith; Hess, Sonja; Ray, Sugata; Favor, Jack; Bogani, Debora; Lyon, Mary; Wistow, Graeme
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
Anjali K Nath
Full Text Available Cardiovascular development is vital for embryonic survival and growth. Early gestation embryo loss or malformation has been linked to yolk sac vasculopathy and congenital heart defects (CHDs. However, the molecular pathways that underlie these structural defects in humans remain largely unknown hindering the development of molecular-based diagnostic tools and novel therapies.Murine embryos were exposed to high glucose, a condition known to induce cardiovascular defects in both animal models and humans. We further employed a mass spectrometry-based proteomics approach to identify proteins differentially expressed in embryos with defects from those with normal cardiovascular development. The proteins detected by mass spectrometry (WNT16, ST14, Pcsk1, Jumonji, Morca2a, TRPC5, and others were validated by Western blotting and immunoflorescent staining of the yolk sac and heart. The proteins within the proteomic dataset clustered to adhesion/migration, differentiation, transport, and insulin signaling pathways. A functional role for several proteins (WNT16, ADAM15 and NOGO-A/B was demonstrated in an ex vivo model of heart development. Additionally, a successful application of a cluster of protein biomarkers (WNT16, ST14 and Pcsk1 as a prenatal screen for CHDs was confirmed in a study of human amniotic fluid (AF samples from women carrying normal fetuses and those with CHDs.The novel finding that WNT16, ST14 and Pcsk1 protein levels increase in fetuses with CHDs suggests that these proteins may play a role in the etiology of human CHDs. The information gained through this bed-side to bench translational approach contributes to a more complete understanding of the protein pathways dysregulated during cardiovascular development and provides novel avenues for diagnostic and therapeutic interventions, beneficial to fetuses at risk for CHDs.
Wasfi Ehab I
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.
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
Morris, D S; Wright, T; Somner, J E A; Connor, A
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.
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.
Wang, Xia; Wang, Hui; Cao, Ming; Li, Zhe; Chen, Xianfeng; Patenia, Claire; Gore, Athurva; Abboud, Emad B.; Al-Rajhi, Ali A.; Lewis, Richard A.; Lupski, James R.; Mardon, Graeme; Zhang, Kun; Muzny, Donna; Gibbs, Richard A.
It has been well documented that mutations in the same retinal disease gene can result in different clinical phenotypes due to difference in the mutant allele and/or genetic background. To evaluate this, a set of consanguineous patient families with Leber congenital amaurosis (LCA) that do not carry mutations in known LCA disease genes was characterized through homozygosity mapping followed by targeted exon/whole-exome sequencing to identify genetic variations. Among these families, a total o...
Gionfriddo, Juliet R
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.
Razafinimpanana, Narivony; Nkumbe, Henry; Courtright, Paul; Lewallen, Susan
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.
Crosby, Niall; Polkinghorne, Philip J; Kim, Bia; McGhee, Charles; Welch, Sarah; Riley, Andrew
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.
Rehani, M. M.; Vano, E.; Ciraj-Bjelac, O.; Kleiman, N. J.
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)
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.
Sonal S Khatavkar
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.
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.
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
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 ...
Freedman, Sharon F.; Lynn, Michael J.; Beck, Allen D.; Bothun, Erick D.; Orge, Faruk H.; Lambert, Scott R.
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
Hirokane, Kenji; Kosaka, Toshiya; Nii, Hiroki; Kiuchi, Yoshiaki; Nakano, Kensuke; Choshi, Kanji
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)
Ayers, Katie L; Bouty, Aurore; Robevska, Gorjana; van den Bergen, Jocelyn A; Juniarto, Achmad Zulfa; Listyasari, Nurin Aisyiyah; Sinclair, Andrew H; Faradz, Sultana M H
Congenital hypogonadotrophic hypogonadism (CHH) and Kallmann syndrome (KS) are caused by disruption to the hypothalamic-pituitary-gonadal (H-P-G) axis. In particular, reduced production, secretion or action of gonadotrophin-releasing hormone (GnRH) is often responsible. Various genes, many of which play a role in the development and function of the GnRH neurons, have been implicated in these disorders. Clinically, CHH and KS are heterogeneous; however, in 46,XY patients, they can be characterised by under-virilisation phenotypes such as cryptorchidism and micropenis or delayed puberty. In rare cases, hypospadias may also be present. Here, we describe genetic mutational analysis of CHH genes in Indonesian 46,XY disorder of sex development patients with under-virilisation. We present 11 male patients with varying degrees of under-virilisation who have rare variants in known CHH genes. Interestingly, many of these patients had hypospadias. We postulate that variants in CHH genes, in particular PROKR2, PROK2, WDR11 and FGFR1 with CHD7, may contribute to under-virilisation phenotypes including hypospadias in Indonesia.
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
Dr P Vijayalakshmi
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.
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
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.
Zhang, Mingjuan Lisa; Hirunyachote, Phenpan; Jampel, Henry
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
Qiu, Zhong-Ling; Xue, Yan-Li; Shen, Chen-Tian; Zhu, Rui-Sen; Luo, Quan-Yong
This is the first case of Graves' disease in an adolescent with lingual and prelaryngeal dual congenital ectopia and no orthotopic thyroid gland identified by technetium-99m-pertechnetate (99mTcO-4) SPET/CT imaging in a 15 years old boy. After 8 weeks treatment with methimazole, Graves' disease subsided. Fine needle aspiration cytology of the mass revealed the normal colloid and normal follicular cells without an atypia or lymphoid elements, suggesting a benign ectopic thyroid gland. In conclusion, there is no report in the literature with DETT lingual and prelaryngeal absence of orthotopic thyroid tissue and Graves' disease as in our case. This case also highlights the potential ascendancy of 99mTcO-4 SPET/CT in diagnosing the DETT.
... 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 ...
Clemmensen, Kåre; Enghild, Jan J; Ivarsen, Anders
-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...
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.
Adriana Maria Drummond Brandão
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.
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.
Ross, Shannon A; Ahmed, Amina; Palmer, April L; Michaels, Marian G; Sánchez, Pablo J; Stewart, Audra; Bernstein, David I; Feja, Kristina; Fowler, Karen B; Boppana, Suresh B
To determine the utility of dried blood spot (DBS) polymerase chain reaction (PCR) in identifying infants with cytomegalovirus (CMV) infection-associated sensorineural hearing loss (SNHL). Newborns at 7 US hospitals between March 2007 and March 2012 were screened for CMV by saliva rapid culture and/or PCR. Infected infants were monitored for SNHL during the first 4 years of life to determine sensitivity, specificity, and positive and negative likelihood ratios of DBS PCR for identifying CMV-associated SNHL. DBS at birth was positive in 11 of 26 children (42%) with SNHL at age 4 years and in 72 of 270 children (27%) with normal hearing (P = .11). The sensitivity (42.3%; 95% CI, 23.4%-63.1%) and specificity (73.3%; 95% CI, 67.6%-78.5%) was low for DBS PCR in identifying children with SNHL at age 4 years. The positive and negative likelihood ratios of DBS PCR positivity to detect CMV-associated SNHL at age 4 years were 1.6 (95% CI, 0.97-2.6) and 0.8 (95% CI, 0.6-1.1), respectively. There was no difference in DBS viral loads between children with SNHL and those without SNHL. DBS PCR for CMV has low sensitivity and specificity for identifying infants with CMV-associated hearing loss. These findings, together with previous reports, demonstrate that DBS PCR does not identify either the majority of CMV-infected newborns or those with CMV-associated SNHL early in life. Copyright © 2017 Elsevier Inc. All rights reserved.
Brooks, Simon; Ebenezer, Neil; Poopalasundaram, Subathra; Maher, Eamonn; Francis, Peter; Moore, Anthony; Hardcastle, Alison
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.
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,.
Demeler, U; Hinzpeter, E N
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.
Garner, B; Davies, Michael Jonathan; Truscott, R J
Recent studies have identified specific hydroxylated amino acid oxidation products which strongly suggest the presence of hydroxyl radical (HO.)-damaged proteins in human cataractous lenses. In the present study, the ability of early stage (type II) and advanced (type IV) nuclear cataractous lens...
Sijssens, K.M.; Rothova, A.; van de Vijver, D.A.M.C.; Stilma, J.S.; de Boer, J.H.
PURPOSE: To identify the possible risk factors for the development of cataract requiring surgery in children with juvenile idiopathic arthritis (JIA)-associated uveitis. DESIGN: Retrospective cohort study. METHODS: Data of 53 children with JIA-associated uveitis, of whom 27 had undergone cataract
Rao, Gullapalli N; Khanna, Rohit; Payal, Abhishek
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.
Liu, Yan; Shen, Yuecheng; Ruan, Haowen; Brodie, Frank L.; Wong, Terence T. W.; Yang, Changhuei; Wang, Lihong V.
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.
Full Text Available Congenital insensitivity to pain with anhidrosis (CIPA is a rare inherited disorder of the peripheral nervous system resulting from mutations in neurotrophic tyrosine kinase receptor 1 gene (NTRK1, which encodes the high-affinity nerve growth factor receptor TRKA. Here, we investigated the oral and craniofacial manifestations of a Chinese patient affected by autosomal-recessive CIPA and identified compound heterozygosity in the NTRK1 gene. The affected boy has multisystemic disorder with lack of reaction to pain stimuli accompanied by self-mutilation behavior, the inability to sweat leading to defective thermoregulation, and mental retardation. Oral and craniofacial manifestations included a large number of missing teeth, nasal malformation, submucous cleft palate, severe soft tissue injuries, dental caries and malocclusion. Histopathological evaluation of the skin sample revealed severe peripheral nerve fiber loss as well as mild loss and absent innervation of sweat glands. Ultrastructural and morphometric studies of a shed tooth revealed dental abnormalities, including hypomineralization, dentin hypoplasia, cementogenesis defects and a dysplastic periodontal ligament. Genetic analysis revealed a compound heterozygosity--c.1561T>C and c.2057G>A in the NTRK1 gene. This report extends the spectrum of NTRK1 mutations observed in patients diagnosed with CIPA and provides additional insight for clinical and molecular diagnosis.
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
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/
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 ...
... 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 ...
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.
Yeh, H; Price, R L; Lonsdale, D
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.
Patel, Chirag; Kim, Stephen Jae; Chomsky, Amy; Saboori, Mazeyar
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.
Wei, Lin; Liang, Ge; Cai, Chunmei; Lv, Jin
Whether vitamin C is a protective factor for age-related cataract remains unclear. Thus, we conducted a meta-analysis to summarize the evidence from epidemiological studies of vitamin C and the risk of age-related cataract. Pertinent studies were identified by searching in PubMed and in Webscience. The random effect model was used to combine the results. Meta-regression and subgroups analyses were used to explore potential sources of between-study heterogeneity. Publication bias was estimated using Egger's regression asymmetry test. Finally, 15 articles with 20 studies for vitamin C intake and eight articles with 10 studies for serum ascorbate were included in this meta-analysis. The relative risk (RR) and 95% confidence interval of cataract for the highest versus the lowest category of vitamin C intake was 0.814 (0.707-0.938), and the associations were significant in America and Asia. Significant association of cataract risk with highest versus the lowest category of serum ascorbate was found in general [0.704 (0.564-0.879)]. Inverse associations were also found between serum ascorbate and nuclear cataract and posterior subcapsular cataract. Higher vitamin C intake and serum ascorbate might be inversely associated with risk of cataract. Vitamin C intake should be advocated for the primary prevention of cataract. © 2015 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.
... 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 ...
Magnusson, Gunilla; Bizjajeva, Svetlana; Haargaard, Birgitte
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...
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.
... 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.
Putzar, L.; Gondan, Matthias; Röder, B.
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....
Putzar, Lisa; Gondan, Matthias; Röder, Brigitte
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.
Kessel, Line; Tendal, Britta; Jørgensen, Karsten Juhl
PURPOSE: Favorable outcome after cataract surgery depends on proper control of the inflammatory response induced by cataract surgery. Pseudophakic cystoid macular edema is an important cause of visual decline after uncomplicated cataract surgery. DESIGN: We compared the efficacy of topical steroids...... with topical nonsteroidal anti-inflammatory drugs (NSAIDs) in controlling inflammation and preventing pseudophakic cystoid macular edema (PCME) after uncomplicated cataract surgery. PARTICIPANTS: Patients undergoing uncomplicated surgery for age-related cataract. METHODS: We performed a systematic literature...... for age-related cataract. MAIN OUTCOME MEASURES: Postoperative inflammation and pseudophakic cystoid macular edema. RESULTS: Fifteen randomized trials were identified. Postoperative inflammation was less in patients randomized to NSAIDs. The prevalence of PCME was significantly higher in the steroid group...
Haargaard, Birgitte; Nyström, Alf; Rosensvärd, Annika
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...
Lely A. Quina
Hmx1 is a homeodomain transcription factor expressed in the developing eye, peripheral ganglia, and branchial arches of avian and mammalian embryos. Recent studies have identified a loss-of-function allele at the HMX1 locus as the causative mutation in the oculo-auricular syndrome (OAS in humans, characterized by ear and eye malformations. The mouse dumbo (dmbo mutation, with similar effects on ear and eye development, also results from a loss-of-function mutation in the Hmx1 gene. A recessive dmbo mutation causing ear malformation in rats has been mapped to the chromosomal region containing the Hmx1 gene, but the nature of the causative allele is unknown. Here we show that dumbo rats and mice exhibit similar neonatal ear and eye phenotypes. In midgestation embryos, dumbo rats show a specific loss of Hmx1 expression in neural-crest-derived craniofacial mesenchyme (CM, whereas Hmx1 is expressed normally in retinal progenitors, sensory ganglia and in CM, which is derived from mesoderm. High-throughput resequencing of 1 Mb of rat chromosome 14 from dmbo/dmbo rats, encompassing the Hmx1 locus, reveals numerous divergences from the rat genomic reference sequence, but no coding changes in Hmx1. Fine genetic mapping narrows the dmbo critical region to an interval of ∼410 kb immediately downstream of the Hmx1 transcription unit. Further sequence analysis of this region reveals a 5777-bp deletion located ∼80 kb downstream in dmbo/dmbo rats that is not apparent in 137 other rat strains. The dmbo deletion region contains a highly conserved domain of ∼500 bp, which is a candidate distal enhancer and which exhibits a similar relationship to Hmx genes in all vertebrate species for which data are available. We conclude that the rat dumbo phenotype is likely to result from loss of function of an ultraconserved enhancer specifically regulating Hmx1 expression in neural-crest-derived CM. Dysregulation of Hmx1 expression is thus a candidate mechanism for congenital ear
Full Text Available Background. Cataract is a leading cause of a reversible blindness in a developed world. The number of cataract surgery procedures performed has been increasing. This study describes methods and cataract surgery quality in Pomurje region, Slovenia from 1998 to 2001, to identify the need for cataract surgical service in this region.Methods. For the purposes of this study, data from medical documentation of all 1182 cataract surgery procedures performed in Murska Sobota Eye Department from 1998 to 2001 were obtained.Results. The rate of cataract surgery has increased from 1.5 to 3.3 per 1000 inhabitants during the observed period. The percentage of glaucoma and diabetes in operated patients has grown in this period. Extracapsular cataract extraction has been replaced by phacoemulsification. In 2001, 95.5% of procedures was performed by phacoemulsification and in 99.0% of cases intraocular lenses were implanted during the surgery. The average pre-operative visual acuity was 0.05 in 1998, 0.11 in 1999, 0.16 in 2000 and 0.22 in 2001. The average waiting period for surgery was 3 months in 1998 and 16 months in 2001.Uncorrected post-operative visual acuity of 1.0 was achieved in 29% and in 50% surgical procedures in years of 1998 and 2001, respectively. The number of complications decreased.Conclusions. A number of cataract surgeries increased and their outcomes showed a considerable improvement. At the same time, real patient needs weren’t addressed as waiting time for surgery increased. Waiting time for surgery has increased. It is to be feared that the number of patients, waiting for the cataract surgery, will increase unless the number of procedures increases. The number of procedures allowed to be performed is too low compared to the number of patients with cataracts.
Russell-Eggitt, I M
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%).
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
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.
J Gordon Millichap
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.
Tillmann, B; Albouy, P; Caclin, A
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.
Yazigi, Alexandre; De Pecoulas, Aurelia Eldin; Vauloup-Fellous, Christelle; Grangeot-Keros, Liliane; Ayoubi, Jean-Marc; Picone, Olivier
Rubella virus infection during the first trimester of pregnancy can cause congenital rubella syndrome (CRS). We aimed to describe the abnormalities in order to define the ultrasound features to look for when performing prenatal scans. The goal of this review is to focus specifically on the signs of CRS accessible to prenatal diagnosis. We analyzed every case of CRS described before and/or after birth that we identified in the Pubmed database and classified them as accessible or not to prenatal diagnosis. The most frequently reported malformations accessible to prenatal diagnosis were: cardiac septal defects, pulmonary artery stenosis, microcephaly, cataract, microphtalmia, and hepatosplenomegaly. This extensive literature review shows that the ultrasound features of CRS are not well known, even though rubella was the first teratogenic virus described. This review will help clinicians in the management of rubella during pregnancy by clarifying the findings to be sought.
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
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
Lee, Cameron M; Afshari, Natalie A
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.
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
Anand, Deepti; Agrawal, Smriti A; Slavotinek, Anne; Lachke, Salil A
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.
Thomas, Roger E; Crichton, Andrew; Thomas, Bennett C
Patients having cataract surgery have often earlier undergone a trabeculectomy for glaucoma. However, cataract surgery may be associated with failure of the previous glaucoma surgery and antimetabolites may be used with cataract surgery to prevent such failure. There is no systematic review on whether antimetabolites with cataract surgery prevent failure of a previous trabeculectomy. To assess the effects of antimetabolites with cataract surgery on functioning of a previous trabeculectomy. We searched CENTRAL (which contains the Cochrane Eyes and Vision Group Trials Register) (2014, Issue 5), Ovid MEDLINE, Ovid MEDLINE In-Process and Other Non-Indexed Citations, Ovid MEDLINE Daily, Ovid OLDMEDLINE (January 1946 to June 2014), EMBASE (January 1980 to June 2014), Latin American and Caribbean Health Sciences Literature Database (LILACS) (January 1982 to June 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 10 June 2014. We also searched the Science Citation Index database (July 2013) and reference lists of potentially relevant studies. Randomised controlled trials (RCTs) of antimetabolites with cataract surgery in people with a functioning trabeculectomy. Two review authors independently reviewed the titles and abstracts from the electronic searches. Two review authors independently assessed relevant full-text articles and entered data. We identified no RCTs to test the effectiveness of antimetabolites with cataract surgery in individuals with the intention of preventing failure of a previous trabeculectomy. There are no RCTs of antimetabolites with cataract surgery in people with a functioning trabeculectomy. Appropriately powered RCTs
Full Text Available Congenital diaphragmatic hernia is a common congenital anomaly of uncertain etiology. Its association with multiple congenital anomalies in various organs is well recognized and antenatal radiological evidence of congenital diaphragmatic hernia warrants thorough evaluation to detect other anomalies, some of which can be life threatening. Rarely, heterotopic hepatic tissue is identified in the hernia, a rare pathological finding, exhibiting more than one macroscopic and microscopic characteristics, and always associated with cardiac congenital anomalies. Herein, we report a case of left-sided microscopic heterotopic hepatic tissue in a congenital diaphragmatic hernia in an infant with multiple cardiac congenital anomalies, but with preserved pericardium.
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
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-...
Estey, Chelsie M
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.
Brower, Jason S.; Wootton-Gorges, Sandra L.; Costouros, John G.; Boakes, Jennette; Greenspan, Adam
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.)
Kieffer, François; Wallon, Martine
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.
Cordell, Heather J.; Bentham, Jamie; Topf, Ana; Zelenika, Diana; Heath, Simon; Mamasoula, Chrysovalanto; Cosgrove, Catherine; Blue, Gillian; Granados-Riveron, Javier; Setchfield, Kerry; Thornborough, Chris; Breckpot, Jeroen; Soemedi, Rachel; Martin, Ruairidh; Rahman, Thahira J.; Hall, Darroch; van Engelen, Klaartje; Moorman, Antoon F.M.; Zwinderman, Aelko H; Barnett, Phil; Koopmann, Tamara T.; Adriaens, Michiel E.; Varro, Andras; George, Alfred L.; dos Remedios, Christobal; Bishopric, Nanette H.; Bezzina, Connie R.; O’Sullivan, John; Gewillig, Marc; Bu’Lock, Frances A.; Winlaw, David; Bhattacharya, Shoumo; Devriendt, Koen; Brook, J. David; Mulder, Barbara J.M.; Mital, Seema; Postma, Alex V.; Lathrop, G. Mark; Farrall, Martin; Goodship, Judith A.; Keavney, Bernard D.
We carried out a genome-wide association study (GWAS) of congenital heart disease (CHD). Our discovery cohort comprised 1,995 CHD cases and 5,159 controls, and included patients from each of the three major clinical CHD categories (septal, obstructive and cyanotic defects). When all CHD phenotypes were considered together, no regions achieved genome-wide significant association. However, a region on chromosome 4p16, adjacent to the MSX1 and STX18 genes, was associated (P=9.5×10−7) with the risk of ostium secundum atrial septal defect (ASD) in the discovery cohort (N=340 cases), and this was replicated in a further 417 ASD cases and 2520 controls (replication P=5.0×10−5; OR in replication cohort 1.40 [95% CI 1.19-1.65]; combined P=2.6×10−10). Genotype accounted for ~9% of the population attributable risk of ASD. PMID:23708191
Schein, Oliver D; Pronovost, Peter J
Cataract surgery poses minimal systemic medical risk, yet a preoperative general medical history and physical is required by the Centers for Medicare and Medicaid Services and other regulatory bodies within 1 month of cataract surgery. Based on prior research and practice guidelines, there is professional consensus that preoperative laboratory testing confers no benefit when routinely performed on cataract surgical patients. Such testing remains commonplace. Although not yet tested in a large-scale trial, there is also no evidence that the required history and physical yields a benefit for most cataract surgical patients above and beyond the screening performed by anesthesia staff on the day of surgery. We propose that the minority of patients who might benefit from a preoperative medical history and physical can be identified prospectively. Regulatory agencies should not constrain medical practice in a way that adds enormous cost and patient burden in the absence of value.
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.
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.
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 ...
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 ...
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.
Canals C, Andrea; Cavada C, Gabriel; Nazer H, Julio
The relative importance of congenital malformations as a cause of death in the first year of life is increasing along with the control of preventable causes of perinatal mortality. To identify risk factors for congenital malformations. Retrospective case-control study of births registered in the database of The Latin American Collaborative Study of Congenital Malformations (ECLAMC), in the period 2001-2010. Birth weight and gestational age were significantly lower in cases than controls, behaving as risk factors and associated with a greater severity of congenital malformations. The risk and severity of congenital malformations increased along with mother's age. Fetal growth retardation, a history of congenital malformations in the family, physical factors and acute illnesses of the mother in the first trimester of pregnancy were also significant risk factors for congenital malformations and their severity. The educational level of the mother was a protective factor for congenital malformations and their severity. Variables previously identified as risk factors for congenital malformations, were significantly related with the occurrence of congenital malformations and their severity.
Hatch, Kathryn M; Schultz, Tim; Talamo, Jonathan H; Dick, H Burkhard
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.
Acharya, Rajendra Udyavara; Yu, Wenwei; Zhu, Kuanyi; Nayak, Jagadish; Lim, Teik-Cheng; Chan, Joey Yiptong
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.
Lee, Sang Wook; Kim, Kyung Soo; Hur, Don
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%)
Hermanns, Pia; Couch, Robert; Leonard, Norma; Klotz, Cherise; Pohlenz, Joachim
Isolated central congenital hypothyroidism (ICCH) is rare but important. Most ICCH patients are diagnosed later, which results in severe growth failure and intellectual disability. We describe a boy with ICCH due to a large homozygous TSHβ gene deletion. A 51-day-old male Turkish infant, whose parents were first cousins, was admitted for evaluation of prolonged jaundice. His clinical appearance was compatible with hypothyroidism. Venous thyrotropin (TSH) was undetectably low, with a subsequent low free T4 and a low free T3, suggestive of central hypothyroidism. Using different PCR protocols, we could not amplify both coding exons of the boy's TSHβ gene, which suggested a deletion. An array comparative genomic hybridization (aCGH) using specific probes around the TSHβ gene locus showed him to be homozygous for a 6-kb deletion spanning all exons and parts of the 5' untranslated region of the gene. Infants who are clinically suspected of having hypothyroidism should be evaluated thoroughly, even if their TSH-based screening result is normal. In cases with ICCH and undetectably low TSH serum concentrations, a TSHβ gene deletion should be considered; aCGH should be performed when gene deletions are suspected. In such cases, PCR-based sequencing techniques give negative results.
de Castro, Alberto; Benito, Antonio; Manzanera, Silvestre; Mompeán, Juan; Cañizares, Belén; Martínez, David; Marín, Jose María; Grulkowski, Ireneusz; Artal, Pablo
To image, describe, and characterize different features visible in the crystalline lens of older adults with and without cataract when imaged three-dimensionally with a swept-source optical coherence tomography (SS-OCT) system. We used a new SS-OCT laboratory prototype designed to enhance the visualization of the crystalline lens and imaged the entire anterior segment of both eyes in two groups of participants: patients scheduled to undergo cataract surgery, n = 17, age range 36 to 91 years old, and volunteers without visual complains, n = 14, age range 20 to 81 years old. Pre-cataract surgery patients were also clinically graded according to the Lens Opacification Classification System III. The three-dimensional location and shape of the visible opacities were compared with the clinical grading. Hypo- and hyperreflective features were visible in the lens of all pre-cataract surgery patients and in some of the older adults in the volunteer group. When the clinical examination revealed cortical or subcapsular cataracts, hyperreflective features were visible either in the cortex parallel to the surfaces of the lens or in the posterior pole. Other type of opacities that appeared as hyporeflective localized features were identified in the cortex of the lens. The OCT signal in the nucleus of the crystalline lens correlated with the nuclear cataract clinical grade. A dedicated OCT is a useful tool to study in vivo the subtle opacities in the cataractous crystalline lens, revealing its position and size three-dimensionally. The use of these images allows obtaining more detailed information on the age-related changes leading to cataract.
Turalba, Angela; Payal, Abhishek R; Gonzalez-Gonzalez, Luis A; Cakiner-Egilmez, Tulay; Chomsky, Amy S; Vollman, David E; Baze, Elizabeth F; Lawrence, Mary; Daly, Mary K
To compare visual acuity outcomes, vision-related quality of life, and complications related to cataract surgery in eyes with and without glaucoma. Retrospective cohort study. Cataract surgery outcomes in cases with and without glaucoma from the Veterans Affairs Ophthalmic Surgical Outcomes Data Project were compared. We identified 608 glaucoma cases and 4306 controls undergoing planned cataract surgery alone. After adjusting for age, pseudoexfoliation, small pupil, prior ocular surgery, and anterior chamber depth, we found that glaucoma cases were more likely to have posterior capsular tear with vitrectomy (odds ratio [OR] 1.8, P = .03) and sulcus intraocular lens placement (OR 1.65, P = .03) during cataract surgery. Glaucoma cases were more likely to have postoperative inflammation (OR 1.73, P < .0001), prolonged elevated intraocular pressure (OR 2.96, P = .0003), and additional surgery within 30 days (OR 1.92, P = .03). Mean best-corrected visual acuity (BCVA) and Visual Function Questionnaire (VFQ) scores significantly improved after cataract surgery in both groups (P < .0001), but there were larger improvements in BCVA (P = .01) and VFQ composite scores (P < .0001) in the nonglaucoma vs the glaucoma group. A total of 3621 nonglaucoma cases (94.1%) had postoperative BCVA 20/40 or better, compared to 466 glaucoma cases (89.6%) (P = .0003). Eyes with glaucoma are at increased risk for complications and have more modest visual outcomes after cataract surgery compared to eyes without glaucoma. Despite this, glaucoma patients still experience significant improvement in vision-related outcomes after cataract extraction. Further study is needed to explore potential factors that influence cataract surgery outcomes in glaucomatous eyes. Published by Elsevier Inc.
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.
Das, Sudeep; Kummelil, Mathew Kurian; Kharbanda, Varun; Arora, Vishal; Nagappa, Somshekar; Shetty, Rohit; Shetty, Bhujang K
To demonstrate the uses and applications of a microscope integrated intraoperative Optical Coherence Tomography in Micro Incision Cataract Surgery (MICS) and Femtosecond Laser Assisted Cataract Surgery (FLACS). Intraoperative real time imaging using the RESCAN™ 700 (Carl Zeiss Meditec, Oberkochen, Germany) was done for patients undergoing MICS as well as FLACS. The OCT videos were reviewed at each step of the procedure and the findings were noted and analyzed. Microscope Integrated Intraoperative Optical Coherence Tomography was found to be beneficial during all the critical steps of cataract surgery. We were able to qualitatively assess wound morphology in clear corneal incisions, in terms of subclinical Descemet's detachments, tears in the inner or outer wound lips, wound gaping at the end of surgery and in identifying the adequacy of stromal hydration, for both FLACS as well as MICS. It also enabled us to segregate true posterior polar cataracts from suspected cases intraoperatively. Deciding the adequate depth of trenching was made simpler with direct visualization. The final position of the intraocular lens in the capsular bag and the lack of bioadhesivity of hydrophobic acrylic lenses were also observed. Even though Microscope Integrated Intraoperative Optical Coherence Tomography is in its early stages for its application in cataract surgery, this initial assessment does show a very promising role for this technology in the future for cataract surgery both in intraoperative decision making as well as for training purposes.
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.
Full Text Available Antioxidant vitamins supplements have been suggested as a strategy to decrease the risk of age-related cataract development. However, the results from observational studies and interventional trials of associations between antioxidant vitamins A, C, and E and cataract development have been inconsistent. We aim to evaluate the effectiveness of multivitamin/mineral supplements for decreasing the risk of age-related cataracts by conducting a systematic review and meta-analysis. In September 2013, we searched multiple databases to identify relevant studies including both cohort studies and randomized controlled trials (RCTs. A random-effects model was used to calculate the pooled relative risks (RR with a 95% confidence interval (CI. Twelve prospective cohort studies and two RCTs were included. Pooled results from the cohort studies indicated that multivitamin/mineral supplements have a significant beneficial effect in decreasing the risk of nuclear cataracts (RR: 0.73; 95% CI: 0.64–0.82, cortical cataracts (RR: 0.81; 95% CI: 0.68–0.94, and any cataracts (RR: 0.66; 95% CI: 0.39–0.93. In addition, there were no decreases in the risk of posterior capsular cataracts (RR: 0.96; 95% CI: 0.72–1.20 or cataract surgery (RR: 1.00; 95% CI: 0.92–1.08. The two RCTs demonstrated that multivitamin/mineral supplements could decrease the risk of nuclear cataracts. There is sufficient evidence to support the role of dietary multivitamin/mineral supplements for the decreasing the risk of age-related cataracts.
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.
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Andley, Usha P; Goldman, Joshua W
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.
Williamson, Victoria J; Stewart, Lauren
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.
Varma, Devesh K; Belovay, Graham W; Tam, Diamond Y; Ahmed, Iqbal Ike K
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.
Concolino, Paola; Mello, Enrica; Minucci, Angelo; Giardina, Emiliano; Zuppi, Cecilia; Toscano, Vincenzo; Capoluongo, Ettore
Background More than 90% of Congenital Adrenal Hyperplasia (CAH) cases are associated with mutations in the 21-hydroxylase gene (CYP21A2) in the HLA class III area on the short arm of chromosome 6p21.3. In this region, a 30 kb deletion produces a non functional chimeric gene with its 5' and 3' ends corresponding to CYP21A1P pseudogene and CYP21A2, respectively. To date, five different CYP21A1P/CYP21A2 chimeric genes have been found and characterized in recent studies. In this paper, we describe a new CYP21A1P/CYP21A2 chimera (CH-6) found in an Italian CAH patient. Methods Southern blot analysis and CYP21A2 sequencing were performed on the patient. In addition, in order to isolate the new CH-6 chimeric gene, two different strategies were used. Results The CYP21A2 sequencing analysis showed that the patient was homozygote for the g.655C/A>G mutation and heterozygote for the p.P30L missense mutation. In addition, the promoter sequence revealed the presence, in heterozygosis, of 13 SNPs generally produced by microconversion events between gene and pseudogene. Southern blot analysis showed that the woman was heterozygote for the classic 30-kb deletion producing a new CYP21A1P/CYP21A2 chimeric gene (CH-6). The hybrid junction site was located between the end of intron 2 pseudogene, after the g.656C/A>G mutation, and the beginning of exon 3, before the 8 bp deletion. Consequently, CH-6 carries three mutations: the weak pseudogene promoter region, the p.P30L and the g.655C/A>G splice mutation. Conclusion We describe a new CYP21A1P/CYP21A2 chimera (CH-6), associated with the HLA-B15, DR13 haplotype, in a young Italian CAH patient. PMID:19624807
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 ...
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.
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.
GALVIS, Virgilio; TELLO, Alejandro; M. RANGEL, Carlos
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
Meenken, C; Assies, J; van Nieuwenhuizen, O; Holwerda-van der Maat, W G; van Schooneveld, M J; Delleman, W J; Kinds, G; Rothova, A
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.
Bilgihan, K; Gürelik, G; Akata, F; Hasanreisoglu, B
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.
Mathew, Milan C; Ervin, Ann-Margret; Tao, Jeremiah; Davis, Richard M
Age-related cataract is a major cause of visual impairment in the elderly. Oxidative stress has been implicated in its formation and progression. Antioxidant vitamin supplementation has been investigated in this context. To assess the effectiveness of antioxidant vitamin supplementation in preventing and slowing the progression of age-related cataract. We searched CENTRAL (which contains the Cochrane Eyes and Vision Group Trials Register) (The Cochrane Library 2012, Issue 2), MEDLINE (January 1950 to March 2012), EMBASE (January 1980 to March 2012), Latin American and Caribbean Literature on Health Sciences (LILACS) (January 1982 to March 2012), Open Grey (System for Information on Grey Literature in Europe) (www.opengrey.eu/), the metaRegister of Controlled Trials (mRCT) (www.controlled-trials.com), ClinicalTrials.gov (www.clinicaltrials.gov) and the WHO International Clinical Trials Registry Platform (ICTRP) (www.who.int/ictrp/search/en). There were no date or language restrictions in the electronic searches for trials. The electronic databases were last searched on 2 March 2012. We also checked the reference lists of included studies and ongoing trials and contacted investigators to identify eligible randomized trials. We included only randomized controlled trials in which supplementation with one or more antioxidant vitamins (beta-carotene, vitamin C and vitamin E) in any form, dosage or combination for at least one year was compared to another antioxidant vitamin or to placebo. Two authors extracted data and assessed trial quality independently. We pooled results for the primary outcomes, i.e., incidence of cataract and incidence of cataract extraction. We did not pool results of the secondary outcomes - progression of cataract and loss of visual acuity, because of differences in definitions of outcomes and data presentation. We pooled results by type of cataract when data were available. We did not perform a sensitivity analysis. Nine trials involving 117
PURPOSE: To study changes in anterior segment morphometry after uneventful phacoemulsification cataract surgery, and to investigate whether there is a relationship between any observed changes and intraocular pressure (IOP) reduction after the procedure. METHODS: The anterior chamber depth (ACD), anterior chamber volume (ACV), anterior chamber angle (ACA), central corneal thickness (CCT), and IOP were measured in 101 non-glaucomatous eyes before and after uneventful phacoemulsification cataract surgery. RESULTS: After cataract surgery, the mean ACD, ACV, and ACA values increased by 1.08 mm, 54.4 mm(3), and 13.1 degrees , respectively, and the mean IOP (corrected for CCT) decreased by 3.2 mm Hg. The predictive value of a previously described index (preoperative ACD\\/preoperative IOP (corrected for CCT) or CPD ratio) for IOP (corrected for CCT) reduction after cataract surgery was confirmed, reflected in an r(2) value of 23.3% between these two parameters (P<0.001). Other indices predictive of IOP reduction after cataract surgery were also identified, including preoperative IOP\\/preoperative ACV and preoperative IOP\\/preoperative ACA, reflected in r(2) values of 13.7 and 13.7%, respectively (P<0.001 and P<0.001, respectively). CONCLUSIONS: Our study confirms the predictive value of the CPD ratio for IOP reduction after cataract surgery, and may contribute to the decision-making process in patients with glaucoma or ocular hypertension. Furthermore, two novel indices of preoperative parameters that are predictive for IOP reduction after cataract surgery were identified, and enhance our understanding of the mechanisms underlying IOP changes after this procedure.
Duke, Roseline E.; Adio, Adedayo; Oparah, Sidney K.; Odey, Friday; Eyo, Okon A.
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
Habtamu, Esmael; Eshete, Zebiba; Burton, Matthew J
Cataract is the leading cause of blindness worldwide, with the greatest burden found in low-income countries. Cataract surgery is a curative and cost-effective intervention. Despite major non-governmental organization (NGO) support, the cataract surgery performed in Southern Region, Ethiopia is currently insufficient to address the need. We analyzed the distribution, productivity, cost and determinants of cataract surgery services. Confidential interviews were conducted with all eye surgeons (Ophthalmologists & Non-Physician Cataract Surgeons [NPCS]) in Southern Region using semi-structured questionnaires. Eye care project managers were interviewed using open-ended qualitative questionnaires. All eye units were visited. Information on resources, costs, and the rates and determinants of surgical output were collected. Cataract surgery provision is uneven across Southern Region: 66% of the units are within 200 km of the regional capital. Surgeon to population ratios varied widely from 1:70,000 in the capital to no service provision in areas containing 7 million people. The Cataract Surgical Rate (CSR) in 2010 was 406 operations/million/year with zonal CSRs ranging between 204 and 1349. Average number of surgeries performed was 374 operations/surgeon/year. Ophthalmologists and NPCS performed a mean of 682 and 280 cataract operations/surgeon/year, respectively (p = 0.03). Resources are underutilized, at 56% of capacity. Community awareness programs were associated with increased activity (p = 0.009). Several factors were associated with increased surgeon productivity (p 2 years, working in a NGO/private clinic, working in an urban unit, having a unit manger, conducting outreach programs and a satisfactory work environment. The average cost of cataract surgery in 2010 was US$141.6 (Range: US$37.6-312.6). Units received >70% of their consumables from NGOs. Mangers identified poor staff motivation, community awareness and limited government support as major
Zierhut, D.; Lohr, F.; Schraube, P.; Huber, P.; Haas, R.; Hunstein, W.; Wannenmacher, M.
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
Seol, Bo Ram; Jeoung, Jin Wook; Park, Ki Ho
To determine changes of visual-field (VF) global indices after cataract surgery and the factors associated with the effect of cataracts on those indices in primary open-angle glaucoma (POAG) patients. A retrospective chart review of 60 POAG patients who had undergone phacoemulsification and intraocular lens insertion was conducted. All of the patients were evaluated with standard automated perimetry (SAP; 30-2 Swedish interactive threshold algorithm; Carl Zeiss Meditec Inc.) before and after surgery. VF global indices before surgery were compared with those after surgery. The best-corrected visual acuity, intraocular pressure (IOP), number of glaucoma medications before surgery, mean total deviation (TD) values, mean pattern deviation (PD) value, and mean TD-PD value were also compared with the corresponding postoperative values. Additionally, postoperative peak IOP and mean IOP were evaluated. Univariate and multivariate logistic regression analyses were performed to identify the factors associated with the effect of cataract on global indices. Mean deviation (MD) after cataract surgery was significantly improved compared with the preoperative MD. Pattern standard deviation (PSD) and visual-field index (VFI) after surgery were similar to those before surgery. Also, mean TD and mean TD-PD were significantly improved after surgery. The posterior subcapsular cataract (PSC) type showed greater MD changes than did the non-PSC type in both the univariate and multivariate logistic regression analyses. In the univariate logistic regression analysis, the preoperative TD-PD value and type of cataract were associated with MD change. However, in the multivariate logistic regression analysis, type of cataract was the only associated factor. None of the other factors was associated with MD change. MD was significantly affected by cataracts, whereas PSD and VFI were not. Most notably, the PSC type showed better MD improvement compared with the non-PSC type after cataract surgery
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
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.
... 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 ...
... 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 © ...
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 ...
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 ...
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.
Wesolosky, Jason D; Rudnisky, Christopher J
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.
van Vliet, Ellen Joan; Sermeus, Walter; van Gaalen, Claudia M; Sol, Johannes C A; Vissers, Jan M H
The demand for cataract surgery is rising, calling for pathways that have good access and are cost-effective. Lean thinking is a management strategy, aimed at improving quality while reducing costs. Lean production processes are designed to identify gaps between expected and actual performance. To analyse the efficacy and efficiency of a lean cataract pathway. Lean care delivered to a prospective cohort (616 cataract patients) was compared (1) with traditional care delivered to a historical cohort (591 cataract patients) and (2) with expected lean care in the prospective cohort. To evaluate efficacy, the authors analysed how many patients received care that adhered to the lean pathway's specifications. To evaluate efficiency, the authors analysed how often patients visited the hospital and how many additional patients could access the pathway. In the lean pathway, patient visits decreased by 23%, and access to the cataract pathway increased with 42%. A 40% decrease in patient visits and a 76% increase in access could have been realised if healthcare staff would have adhered to the lean pathway's specifications. Lean pathways can realise large improvements, and still have a significant gap between expected and actual care delivery. The challenge for healthcare teams is not to improve care delivery by using lean pathways as opposed to using traditional pathways, but to strive for optimal performance by consistently adhering to the specifications of the lean pathway.
Graff, Claus; Andersen, Mads P; Xue, Joel Q
BACKGROUND: The electrocardiographic QT interval is used to identify drugs with potential harmful effects on cardiac repolarization in drug trials, but the variability of the measurement can mask drug-induced ECG changes. The use of complementary electrocardiographic indices of abnormal repolariz......BACKGROUND: The electrocardiographic QT interval is used to identify drugs with potential harmful effects on cardiac repolarization in drug trials, but the variability of the measurement can mask drug-induced ECG changes. The use of complementary electrocardiographic indices of abnormal...... are typical ECG patterns in LQT2. Blinded to labels, the new morphology measures were tested in a third group of 39 healthy subjects receiving sotalol. Over 3 days the sotalol group received 0, 160 and 320 mg doses, respectively, and a 12-lead Holter ECG was recorded for 22.5 hours each day. Drug...... with QTcF, p ECG patterns in LQT2 carriers effectively quantified repolarization changes induced by sotalol. Further studies are needed to validate whether this measure has...
conditions, and to plan prevention and rehabilitation programmes. ... congenital infections and genetic deafness, blindness, physical ... The major challenges identified included erratic compliance by health facilities and a ..... Resolution 63.17.
Lee, Woong Hee; Kim, Young Tong; Jou, Sung Shick; Shin, Hyeong Cheol [Soonchunhyang University, Asan (Korea, Republic of)
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
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.
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 ...
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. In Nigeria, 42.9% of blindness is caused by cataract.  A large number of the cataract blind have not had surgery ..... Change the definition of blindness.
Takahashi, Shigehiro; Sago, Haruhiko; Kanamori, Yutaka; Hayakawa, Masahiro; Okuyama, Hiroomi; Inamura, Noboru; Fujino, Yuji; Usui, Noriaki; Taguchi, Tomoaki
Congenital diaphragmatic hernia is associated with cardiovascular malformation. Many prognostic factors have been identified for isolated congenital diaphragmatic hernia; however, reports of concurrent congenital diaphragmatic hernia and cardiovascular malformation in infants are limited. This study evaluated congenital diaphragmatic hernia associated with cardiovascular malformation in infants. Factors associated with prognosis for patients were also identified. This retrospective cohort study was based on a Japanese survey of congenital diaphragmatic hernia patients between 2006 and 2010. Frequency and outcome of cardiovascular malformation among infants with congenital diaphragmatic hernia were examined. Severity of congenital diaphragmatic hernia and cardiovascular malformation were compared as predictors of mortality and morbidity. Cardiovascular malformation was identified in 76 (12.3%) of 614 infants with congenital diaphragmatic hernia. Mild cardiovascular malformation was detected in 19 (33.9%) and severe cardiovascular malformation in 37 (66.1%). Their overall survival rate at discharge was 46.4%, and the survival rate without morbidity was 23.2%. Mortality and morbidity at discharge were more strongly associated with severity of cardiovascular malformation (adjusted OR 7.69, 95%CI 1.96-30.27; adjusted OR 7.93, 95%CI 1.76-35.79, respectively) than with severity of congenital diaphragmatic hernia. The prognosis for infants with both congenital diaphragmatic hernia and cardiovascular malformation remains poor. Severity of cardiovascular malformation is a more important predictive factor for mortality and morbidity than severity of congenital diaphragmatic hernia. © 2013 The Authors. Pediatrics International © 2013 Japan Pediatric Society.
Full Text Available Abstract Background X-linked ocular albinism type 1 (OA1 is caused by mutations in OA1 gene, which encodes a membrane glycoprotein localised to melanosomes. OA1 mainly affects pigment production in the eye, resulting in optic changes associated with albinism including hypopigmentation of the retina, nystagmus, strabismus, foveal hypoplasia, abnormal crossing of the optic fibers and reduced visual acuity. Affected Caucasian males usually appear to have normal skin and hair pigment. Results We identified three previously undescribed mutations consisting of two intragenic deletions (one encompassing exon 6, the other encompassing exons 7–8, and a point mutation (310delG in exon 2. We report the development of a new method for diagnosis of heterozygous deletions in OA1 gene based on measurement of gene copy number using real-time quantitative PCR from genomic DNA. Conclusion The identification of OA1 mutations in families earlier reported as families with hereditary nystagmus indicate that ocular albinism type 1 is probably underdiagnosed. Our method of real-time quantitative PCR of OA1 exons with DMD exon as external standard performed on the LightCycler™ allows quick and accurate carrier-status assessment for at-risk females.
Anna Maria Roszkowska
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
Lipman, R.M.; Tripathi, B.J.; Tripathi, R.C.
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
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.
Saleh A. Al-Akily
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.
Jentink, Janneke; Dolk, Helen; Loane, Maria A
To identify specific major congenital malformations associated with use of carbamazepine in the first trimester of pregnancy.......To identify specific major congenital malformations associated with use of carbamazepine in the first trimester of pregnancy....
Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
Full Text Available Non-bullous congenital ichthyosiform erythroderma (NBCIE is a hereditary disorder of keratinization caused by pathogenic variants in genes encoding enzymes important to lipid processing and terminal keratinocyte differentiation. Impaired function of these enzymes can cause pathologic epidermal scaling, significantly reduced skin barrier function. In this study, we have performed a focused, genetic analysis of a probrand affected by NBCIE and extended this to his consanguineous parents. Targeted capture and next-generation sequencing was performed on NBCIE associated genes in the proband and his unaffected consanguineous parents. We identified a homozygous nonsense variant c.814C>T (p.Arg272* in ALOXE3 (NM_001165960.1 in the proband and discovered that his parents are both heterozygous carriers of the variant. The clinical manifestations of the proband’s skin were consistent with NBCIE, and detailed histopathological assessment revealed epidermal bulla formation and Majocchi’s granuloma. Infection with Trichophyton rubrum was confirmed by culture. The patient responded to oral terbinafine antifungal treatment. Decreased skin barrier function, such as that caused by hereditary disorders of keratinization, can increase the risk of severe cutaneous fungal infections and the formation of Majocchi’s granuloma and associated alopecia. Patients with NBCIE should be alerted to the possible predisposition for developing dermatophytoses and warrant close clinical follow-up.
Full Text Available Background: Regular follow up and amblyopia treatment are essential for good outcomes after pediatric cataract surgery. Aim: To study the regularity of follow-up after cataract surgery in children and to gauge the causes of poor compliance to follow up. Subjects: 262 children (393 cataracts who underwent cataract surgery in 2004-8. Materials and Methods: The children were identified and examined in their homes and a "barriers to follow-up" questionnaire completed. Demographic data collected, visual acuity estimated, and ocular examination performed. Statistical Analysis: SPSS version 19. Results: Of the 262 children, only 53 (20.6% had been regularly following up with any hospital, 209 (79.4% had not. A total of 150 (57.3% were boys and the average age was 13.23 years (Std Dev 5 yrs. Poor follow up was associated with the older age group ( P 1 line with regular follow-up. Conclusion: Regular follow-up is important and improves vision; eye care practitioners need to take special efforts to ensure better follow-up.
Castañeda, Y S; Cheng-Patel, C S; Leske, D A; Wernimont, S M; Hatt, S R; Liebermann, L; Birch, E E; Holmes, J M
PurposeTo identify specific health-related quality of life (HRQOL) and functional vision concerns affecting children with cataracts and common associated conditions as expressed by children or one of their parents (proxy), and HRQOL concerns affecting the parents themselves.MethodsIndividual semi-structured interviews were conducted with parents of children with cataracts (N=31) and with the children themselves (ages 5-17 years; N=16). Transcripts of recorded interviews were evaluated using NVivo software. Specific concerns were identified and coded, and broad themes were identified. The frequency of each theme was calculated, with the frequency of specific concerns within each theme.ResultsRegarding the child's experience, 6 themes were identified: Visual Function (mentioned by 16 of 16 children (100%) and by 26 of 31 parents (84%), Social (94 and 65%), Treatment (81 and 90%), Worry (75 and 10%), Emotions (63 and 68%), and Physical Discomfort (63 and 26%). Worry showed the largest discrepancy between child and their parent; although 75% children reported Worry, only 6% of parents reported that their child experienced Worry (P=0.0009). Regarding the parents' own experience, 5 themes were identified: Worry (100%), Compensation for Condition (100%), Treatment (94%), Emotions (90%), and Affects Family (52%).ConclusionsA wide range of concerns were identified from interviews of children with cataracts and their parents. Concerns reflect the impact of cataracts in physical, emotional, and social domains, and specific concerns will be used for the development of questionnaires to quantify the quality of life and functional vision effects of cataracts.
Gosal Gurinder S
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.
Ng, Jonathon Q; Lundström, Mats
To evaluate waiting times for first-eye cataract surgery in Sweden following widespread adoption of the Nationell Indikationsmodell for Kataraktextraktion (NIKE) tool for prioritizing patients for cataract surgery. Waiting times for all first-eye cataract surgeries in Sweden in 2009-2011 were identified from the Swedish National Cataract Register. Waiting times were compared according to demographic, clinical and NIKE indication group for surgery. Multivariate logistic regression modelling was used to determine factors associated with waiting times less than the 3-month Government guarantee period. There were 141,070 first-eye cataract surgeries in 2009 to 2011; an annual increase of around 6%. Over the study period, mean waiting times decreased across all NIKE groups. The proportion waiting NIKE groups. Surgery within 3 months of waitlisting was more likely for patients with a NIKE 1 indication classification (most need for surgery), in later years, male patients, younger patients and patients with a preoperative visual acuity in the better eye worse than 6/24. Prioritizing patients for cataract surgery using NIKE reduces waiting times for those with the greatest need. © 2013 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.
Mohd R.A. Manaf
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
Nirmalan, P K; Thulasiraj, R D; Maneksha, V; Rahmathullah, R; Ramakrishnan, R; Padmavathi, A; Munoz, S R; Ellwein, L B
Aims: To assess the prevalence of vision impairment, blindness, and cataract surgery and to evaluate visual acuity outcomes after cataract surgery in a south Indian population. Methods: Cluster sampling was used to randomly select a cross sectional sample of people ≥50 years of age living in the Tirunelveli district of south India. Eligible subjects in 28 clusters were enumerated through a door to door household survey. Visual acuity measurements and ocular examinations were performed at a selected site within each of the clusters in early 2000. The principal cause of visual impairment was identified for eyes with presenting visual acuity India) was found in 11.0%, and in 4.6% with best correction. Presenting blindness was associated with older age, female sex, and illiteracy. Cataract was the principal cause of blindness in at least one eye in 70.6% of blind people. The prevalence of cataract surgery was 11.8%—with an estimated 56.5% of the cataract blind already operated on. Surgical coverage was inversely associated with illiteracy and with female sex in rural areas. Within the cataract operated sample, 31.7% had presenting visual acuity ≥6/18 in both eyes and 11.8% were <6/60; 40% were bilaterally operated on, with 63% pseudophakic. Presenting vision was <6/60 in 40.7% of aphakic eyes and in 5.1% of pseudophakic eyes; with best correction the percentages were 17.6% and 3.7%, respectively. Refractive error, including uncorrected aphakia, was the main cause of visual impairment in cataract operated eyes. Vision <6/18 was associated with cataract surgery in government, as opposed to that in non-governmental/private facilities. Age, sex, literacy, and area of residence were not predictors of visual outcomes. Conclusion: Treatable blindness, particularly that associated with cataract and refractive error, remains a significant problem among older adults in south Indian populations, especially in females, the illiterate, and those living in rural areas. Further
Kempen-Harteveld, M. Loes van; Struikmans, Henk; Kal, Henk B.; Tweel, Ingeborg van der; Mourits, Maarten; Verdonck, Leo F.; Schipper, Jan; Battermann, Jan J.
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
Thomsen, Ann Sofia Skou; Kiilgaard, Jens Folke; Kjaerbo, Hadi
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...
Havnaer, Annika G; Greenberg, Paul B; Cockerham, Glenn C; Clark, Melissa A; Chomsky, Amy
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.
Developmental genetics of congenital heart diseases has evolved from analysis of serial slices in embryos towards molecular genetics of cardiac morphogenesis with a dynamic view of cardiac development. Genetics of congenital heart diseases has also changed from formal genetic analysis of familial recurrences or population-based analysis to screening for mutations in candidates genes identified in animal models. Close cooperation between molecular embryologists, pathologists involved in heart development and pediatric cardiologists is crucial for further increase of knowledge in the field of cardiac morphogenesis and genetics of cardiac defects. The genetic model for congenital heart disease has to be revised to favor a polygenic origin rather than a monogenic one. The main mechanism is altered genic dosage that can account for heart diseases in chromosomal anomalies as well as in point mutations in syndromic and isolated congenital heart diseases. The use of big data grouping information from cardiac development, interactions between genes and proteins, epigenetic factors such as chromatin remodeling or DNA methylation is the current source for improving our knowledge in the field and to give clues for future therapies. Copyright © 2017 Elsevier Masson SAS. All rights reserved.
Petrovic, Mirjana Janicijevic; Vulovic, Tatjana Sarenac; Vulovic, Dejan; Janicijevic, Katarina; Petrovic, Marko; Vujic, Dragan
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.
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.
Aiyub, Shereen; Chan, Weng Onn; Szetu, John; Sullivan, Laurence J; Pater, John; Cooper, Peter; Selva, Dinesh
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...
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).
Full Text Available Background : This study was conducted in JIPMER & Kurusukuppam, Pondicherry. Objectives : To identify the socioeconomic factors influencing the utilization of cataract surgery & to identify the persons motivating the patients to utilize these services. This was a case-control study; cases were patients (age group 50-70 years who were operated in JIPMER for senile cataract without complications and one control was selected for each case. Controls were also of the same age group residing at Kurusukuppam with complaints of dimness of vision and who had not undergone cataract surgery, selected by random sampling. Both the groups were interviewed using a pretested interview schedule. Results : Subjects who were literate and with high school education and more and with income more than Rs.1050 (class III utilized the cataract surgery services more. In majority of cases, motivation for getting operated comes from relatives. Peer groups who have undergone the surgery before, were the predominant sources of health information about the surgery. Higher income & higher education affect the utilization significantly. Relatives & Previously operated peers play an important role.
Pagel, N; Dick, H B; Krummenauer, F
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
The Greek term "glaucoma" has nothing to do with the disease we call glaucoma today and that we use to translate incorrectly with "grüner Star" throughout the German-speaking countries. The Greek adjective "glaucos" does not mean green but gleaming, sparkling. It signified the discolouring of the pupil in glaucoma. It was later replaced by the pathogenetic term hypochysis, Latin suffusio, denoting the supposed "trübe Feuchte" (opaque humour) that was taught to gather and congeal in front of the crystalline lens. Later on "glaukosis" was reserved for incurable cases, disease of the crystalline lens itself, which was looked at as the "organon visus" up to Felix Plater. The word "cataract"--waterfall--does not exist in Greek medicine. It appears in Salernitan medical science around the year 1000 as a synonym for hypochysis, the disease we call cataract today and which has been identified as opacity of the lens since Brisseau (1705). The nature of "incurable" glaucoma, later considered as a disease of the vitreous body, was clearly recognized as a consequence of intraocular increase of pressure only by v. Graefe.
Roizenblatt, Roberto; Schor, Paulo; Dante, Fabio; Roizenblatt, Jaime; Belfort, Rubens
Biometric methods are security technologies, which use human characteristics for personal identification. Iris recognition systems use iris textures as unique identifiers. This paper presents an analysis of the verification of iris identities after intra-ocular procedures, when individuals were enrolled before the surgery. Fifty-five eyes from fifty-five patients had their irises enrolled before a cataract surgery was performed. They had their irises verified three times before and three times after the procedure, and the Hamming (mathematical) distance of each identification trial was determined, in a controlled ideal biometric environment. The mathematical difference between the iris code before and after the surgery was also compared to a subjective evaluation of the iris anatomy alteration by an experienced surgeon. A correlation between visible subjective iris texture alteration and mathematical difference was verified. We found only six cases in which the eye was no more recognizable, but these eyes were later reenrolled. The main anatomical changes that were found in the new impostor eyes are described. Cataract surgeries change iris textures in such a way that iris recognition systems, which perform mathematical comparisons of textural biometric features, are able to detect these changes and sometimes even discard a pre-enrolled iris considering it an impostor. In our study, re-enrollment proved to be a feasible procedure.
Full Text Available Abstract Background Biometric methods are security technologies, which use human characteristics for personal identification. Iris recognition systems use iris textures as unique identifiers. This paper presents an analysis of the verification of iris identities after intra-ocular procedures, when individuals were enrolled before the surgery. Methods Fifty-five eyes from fifty-five patients had their irises enrolled before a cataract surgery was performed. They had their irises verified three times before and three times after the procedure, and the Hamming (mathematical distance of each identification trial was determined, in a controlled ideal biometric environment. The mathematical difference between the iris code before and after the surgery was also compared to a subjective evaluation of the iris anatomy alteration by an experienced surgeon. Results A correlation between visible subjective iris texture alteration and mathematical difference was verified. We found only six cases in which the eye was no more recognizable, but these eyes were later reenrolled. The main anatomical changes that were found in the new impostor eyes are described. Conclusions Cataract surgeries change iris textures in such a way that iris recognition systems, which perform mathematical comparisons of textural biometric features, are able to detect these changes and sometimes even discard a pre-enrolled iris considering it an impostor. In our study, re-enrollment proved to be a feasible procedure.
Pahys, Joshua M; Guille, James T
Congenital scoliosis is a failure of vertebral formation, segmentation, or a combination of the 2 arising from abnormal vertebral development during weeks 4 to 6 of gestation. The associated spinal deformity can be of varying severity and result in a stable or progressive deformity based on the type and location of the anomalous vertebra(e). Bracing for congenital scoliosis is rarely indicated, while recent reports have demonstrated the utility of serial derotational casting for longer curves with multiple anomalous vertebrae as an effective "time buying strategy" to delay the need for surgery. Earlier hemivertebra excision and short-segment posterior spinal fusion have been advocated to prevent future curve progression of the deformity and/or the development of large compensatory curves. It has been shown in recent long-term follow-up studies that growth rates of the vertebral body and spinal canal are not as dramatically affected by pedicle screw instrumentation at a young age as once thought. Growth friendly surgery with either spine-based or rib-based anchors has demonstrated good results with curve correction while maintaining spinal growth. Rib-based anchors are typically more commonly indicated in the setting of chest wall abnormalities and/or when spinal anatomy precludes placement of spinal instrumentation. Recently, magnetically controlled growing rods have shown promising results in several studies that include a small subset of congenital scoliosis cases. A literature search was performed to identify existing studies related to the treatment of congenital scoliosis published from January 1, 2005 to June 1, 2016. Databases included PubMed, Medline, and the Cochrane Library. The search was limited to English articles and yielded 36 papers. This project was initiated by the Pediatric Orthopaedic Society of North America Publications Committee and was reviewed and approved by the Pediatric Orthopaedic Society of North America Presidential Line. A total of
Bracher, Isabelle; Padrutt, Maria; Bonassin, Francesca; Santos Lopes, Bruno; Gruner, Christiane; Stämpfli, Simon F; Oxenius, Angela; De Pasquale, Gabriella; Seeliger, Theresa; Lüscher, Thomas F; Attenhofer Jost, Christine; Greutmann, Matthias
Our aim was to assess the overall burden of congenital syndromes and non-cardiac comorbidities among adults with congenital heart disease and to assess their impact on circumstances of living and outcomes. Within a cohort of 1725 adults with congenital heart defects (65% defects of moderate or great complexity) followed at a single tertiary care center, congenital syndromes and comorbidities were identified by chart review. Their association with arrhythmias, circumstances of living and survival was analyzed. Within the study cohort, 232 patients (13%) had a genetic syndrome, 51% at least one comorbidity and 23% ≥2 comorbidities. Most prevalent comorbidities were systemic arterial hypertension (11%), thyroid dysfunction (9%), psychiatric disorders (9%), neurologic disorders (7%), chronic lung disease (7%), and previous stroke (6%). In contrast to higher congenital heart defect complexity, the presence of comorbidities had no impact on living circumstances but patients with comorbidities were less likely to work full-time. Atrial arrhythmias were more common among patients with moderate/great disease complexity and those with comorbidities but were less common among patients with congenital syndromes (pCongenital syndromes and comorbidities are highly prevalent in adults with congenital heart disease followed at specialist centers and add to the overall complexity of care. The presence of these additional factors has an impact on living circumstances, is associated with arrhythmias and needs to be further explored as prognostic markers. Copyright © 2017 Elsevier B.V. All rights reserved.
D. A. Kharlamov
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.
Stolk-Vos, Aline C; van de Klundert, Joris J; Maijers, Niels; Zijlmans, Bart L M; Busschbach, Jan J V
To develop a method to define a multi-stakeholder perspective on health-service quality that enables the expression of differences in systematically identified stakeholders' perspectives, and to pilot the approach for cataract care. Mixed-method study between 2014 and 2015. Cataract care in the Netherlands. Stakeholder representatives. We first identified and classified stakeholders using stakeholder theory. Participants established a multi-stakeholder perspective on quality of cataract care using concept mapping, this yielded a cluster map based on multivariate statistical analyses. Consensus-based quality dimensions were subsequently defined in a plenary stakeholder session. Stakeholders and multi-stakeholder perspective on health-service quality. Our analysis identified seven definitive stakeholders, as follows: the Dutch Ophthalmology Society, ophthalmologists, general practitioners, optometrists, health insurers, hospitals and private clinics. Patients, as dependent stakeholders, were considered to lack power by other stakeholders; hence, they were not classified as definitive stakeholders. Overall, 18 stakeholders representing ophthalmologists, general practitioners, optometrists, health insurers, hospitals, private clinics, patients, patient federations and the Dutch Healthcare Institute sorted 125 systematically collected indicators into the seven following clusters: patient centeredness and accessibility, interpersonal conduct and expectations, experienced outcome, clinical outcome, process and structure, medical technical acting and safety. Importance scores from stakeholders directly involved in the cataract service delivery process correlated strongly, as did scores from stakeholders not directly involved in this process. Using a case study on cataract care, the proposed methods enable different views among stakeholders concerning quality dimensions to be systematically revealed, and the stakeholders jointly agreed on these dimensions. The methods
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.
Brøndsted, Adam Elias; Sander, Birgit; Haargaard, Birgitte
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...
Chew, Emily Y; SanGiovanni, John Paul; Ferris, Frederick L; Wong, Wai T; Agron, Elvira; Clemons, Traci E; Sperduto, Robert; Danis, Ronald; Chandra, Suresh R; Blodi, Barbara A; Domalpally, Amitha; Elman, Michael J; Antoszyk, Andrew N; Ruby, Alan J; Orth, David; Bressler, Susan B; Fish, Gary E; Hubbard, George B; Klein, Michael L; Friberg, Thomas R; Rosenfeld, Philip J; Toth, Cynthia A; Bernstein, Paul
significant overall effect on rates of cataract surgery or vision loss. clinicaltrials.gov Identifier: NCT00345176.
Ravilla, Thulasiraj D; Gupta, Sanjeev; Ravindran, Ravilla D; Vashist, Praveen; Krishnan, Tiruvengada; Maraini, Giovanni; Chakravarthy, Usha; Fletcher, Astrid E
Biomass cooking fuels are commonly used in Indian households, especially by the poorest socioeconomic groups. Cataract is highly prevalent in India and the major cause of vision loss. The evidence on biomass fuels and cataract is limited. To examine the association of biomass cooking fuels with cataract and type of cataract. We conducted a population-based study in north and south India using randomly sampled clusters to identify people ≥ 60 years old. Participants were interviewed and asked about cooking fuel use, socioeconomic and lifestyle factors and attended hospital for digital lens imaging (graded using the Lens Opacity Classification System III), anthropometry, and blood collection. Years of use of biomass fuels were estimated and transformed to a standardized normal distribution. Of the 7,518 people sampled, 94% were interviewed and 83% of these attended the hospital. Sex modified the association between years of biomass fuel use and cataract; the adjusted odds ratio (OR) for a 1-SD increase in years of biomass fuel use and nuclear cataract was 1.04 (95% CI: 0.88, 1.23) for men and 1.28 (95% CI: 1.10, 1.48) for women, p interaction = 0.07. Kerosene use was low (10%). Among women, kerosene use was associated with nuclear (OR = 1.76, 95% CI: 1.04, 2.97) and posterior subcapsular cataract (OR = 1.71, 95% CI: 1.10, 2.64). There was no association among men. Our results provide robust evidence for the association of biomass fuels with cataract for women but not for men. Our finding for kerosene and cataract among women is novel and requires confirmation in other studies. Citation: Ravilla TD, Gupta S, Ravindran RD, Vashist P, Krishnan T, Maraini G, Chakravarthy U, Fletcher AE. 2016. Use of cooking fuels and cataract in a population-based study: the India Eye Disease Study. Environ Health Perspect 124:1857-1862; http://dx.doi.org/10.1289/EHP193.
Sikder, Shameema; Tuwairqi, Khaled; Al-Kahtani, Eman; Myers, William G; Banerjee, Pat
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.
Higgins, C.B.; Silverman, N.H.; Kersting-Somerhoff, B.A.
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
Selin, Jinjin Z; Lindblad, Birgitta E; Bottai, Matteo; Morgenstern, Ralf; Wolk, Alicja
Previous studies that have investigated the association between B-vitamin supplement use and risk for cataract yield conflicting results. The aim of this study was to examine the association between use of high-dose B-vitamin supplements (approximately 10 times recommended daily intake) and risk for age-related cataract in a population-based prospective study of 13 757 women from the Swedish Mammography Cohort and 22 823 men from the Cohort of Swedish Men. Dietary supplement use and potential confounders were assessed using a questionnaire at baseline. Information on cataract diagnosis and extraction was obtained through linkage to registers. During the follow-up period between January 1998 and December 2011, we identified 8395 cataract cases (3851 for women and 4544 for men). The use of B vitamins plus other supplements and B vitamins only was associated with 9 % (95 % CI 2, 17) and 27 % (95 % CI 12, 43) increased risk for cataract, respectively. The hazard ratios for use of B vitamins only and risk for cataract stratified by different age groups were as follows: B-vitamin supplements was associated with an increased risk for cataract. This association might be confined to younger participants.
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.
Begiristain, J; Elizalde, B; Ibarluzea, J; Mendicute, J; Sola, C
To assess the adequacy to clinical practice of cataract procedures contracted in the Gipuzkoa Health Area (in public as well as concerted hospitals) from 1995. A second aim is to identify the achievements obtained three years after its implementation comparing the data with those of 1994, a year before. Before its implementation a multidisciplinar team established the number of surgical procedures to be contracted each year by age and sex, as well as the technical and quality conditions (out-patient surgery, loco-regional anaesthetic, facoemulsification, etc.). Data used for the assessment: Cataracts Registry of the Ophthalmologic Unit, Patient Management Categories and surgical waiting lists. During the period studied, 8,073 cataract operations were performed, 9% higher than expected. The distribution by age and sex was as estimated. Technical and quality standards were fulfilled, except for the surgical waiting list, in at least 75% of the procedures. The surgical technique mainly used was facoenmulsification, increasing from 15% in 1994 to 76.5% in 1997. The contracting of cataract surgery has allowed the assessment, reordering, and establishment of standards of care for all the professionals involved in the process. There were improvements in clinical practice during the period studied. This has given raise to the homogenisation of care in all the units following technical and quality standards, meaning better equity for the patients in need of the procedure.
Brian, Garry; Ramke, Jacqueline; Szetu, John; Qoqonokana, Mundi Qalo
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.
Ravin, J G
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.
Trokielewicz, Mateusz; Czajka, Adam; Maciejewicz, Piotr
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
Randrianaivo, Jean-Baptiste; Anholt, R Michele; Tendrisoa, Diarimirindra Lazaharivony; Margiano, Nestor Jean; Courtright, Paul; Lewallen, Susan
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.
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.
Van C. Lansingh; Marissa J. Carter; Kristen A. Eckert; Kevin L. Winthrop; João M. Furtado; Serge Resnikoff
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...
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.
Mousseau, Timothy Alexander; Møller, Anders Pape
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
Park, Sangshin; Choi, Nam-Kyong
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.
Chen, Tingting; Jin, Ling; Zhou, Zhongqiang; Huang, Yiwen; Yan, Xixi; Liu, Tianyu; Ong, Ee Lin; Liu, Bin; Huang, Wenyong; Iezzi, Beatrice; He, Mingguang; Friedman, David S; Congdon, Nathan G
To identify factors associated prospectively with increased cataract surgical rate (CSR) in rural Chinese hospitals. Annual cataract surgical output was obtained at baseline and 24 months later from operating room records at 42 rural, county-level hospitals. Total local CSR (cases/million population/y), and proportion of CSR from hospital and local competitors were calculated from government records. Hospital administrators completed questionnaires providing demographic and professional information, and annual clinic and outreach screening volume. Independent cataract surgeons provided clinical information and videotapes of cases for grading by two masked experts using the Ophthalmology Surgical Competency Assessment Rubric (OSCAR). Uncorrected vision was recorded for 10 consecutive cataract cases at each facility, and 10 randomly-identified patients completed hospital satisfaction questionnaires. Total value of international nongovernmental development organization (INGDO) investment in the previous three years and demographic information on hospital catchment areas were obtained. Main outcome was 2-year percentage change in hospital CSR. Among the 42 hospitals (median catchment population 530,000, median hospital CSR 643), 78.6% (33/42) were receiving INGDO support. Median change in hospital CSR (interquartile range) was 33.3% (-6.25%, 72.3%). Predictors of greater increase in CSR included higher INGDO investment (P = 0.02, simple model), reducing patient dissatisfaction (P = 0.03, simple model), and more outreach patient screening (P = 0.002, simple and multiple model). Outreach cataract screening was the strongest predictor of increased surgical output. Government and INGDO investment in screening may be most likely to enhance output of county hospitals, a major goal of China's Blindness Prevention Plan. Copyright 2015 The Association for Research in Vision and Ophthalmology, Inc.
Yu. V. Lobzin
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.
Zemba, M; Papadatu, Adriana-Camelia; Sîrbu, Laura-Nicoleta; Avram, Corina
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.
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.
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.
He, Wei; Li, Xin; Chen, Jiajing; Xu, Ling; Zhang, Feng; Dai, Qiushi; Cui, Hao; Wang, Duen-Mei; Yu, Jun; Hu, Songnian; Lu, Shan
The aim of the study was to characterize the underlying mutation in a large multiplex Chinese family with hereditary nuclear cataract. A 6-generation Chinese family having hereditary nuclear cataract was recruited and clinically verified. Blood DNA samples were obtained from 53 available family members. Linkage analyses were performed on the known candidate regions for hereditary cataract with 36 polymorphic microsatellite markers. To identify mutations related to cataract, a direct sequencing approach was applied to a candidate gene residing in our linkage locus. A linkage locus was identified with a maximum 2-point LOD score of 4.31 (recombination fraction = 0) at marker D1S498 and a maximum multipoint LOD score of 5.7 between markers D1S2344 and D1S498 on chromosome 1q21.1, where the candidate gene Cx50 is located. Direct sequencing of Cx50 showed a 139 G to A transition occurred in all affected family members. This transitional mutation resulted in a replacement of aspartic acid by asparagine at residue 47 (D47N) and led to a loss-of-function of the protein. The D47N mutation of Cx50 causes the hereditary nuclear cataract in this family in an autosomal dominant mode of inheritance with incomplete penetrance.
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
Ibrahim, Nazaradden; Ramke, Jacqueline; Pozo-Martin, Francisco; Gilbert, Clare E
Direct medical and non-medical costs incurred by those undergoing subsidised cataract surgery at Gusau eye clinic, Zamfara state, were recently determined. The aim of this study was to assess the willingness to pay for cataract surgery among adults with severe visual impairment or blindness from cataract in rural Zamfara and to compare this to actual costs. In three rural villages served by Gusau eye clinic, key informants helped identify 80 adults with bilateral severe visual impairment or blindness (pay for cataract surgery was determined. The proportion willing to pay actual costs of the (i) subsidised surgical fee (US$18.5), (ii) average non-medical expenses (US$25.2), and (iii) average total expenses (US$51.2) at Gusau eye clinic were calculated. Where participants would seek funds for surgery was determined. Among 80 participants (38% women), most (n = 73, 91%) were willing to pay something, ranging from pay US$18.5 (78% men), one-third (n = 26) were willing to pay US$25.2 (77% men); and 11% (n = 9) were willing to pay US$51.2 (all men). Only six participants (8%) already had the money to pay; one quarter (n = 20) would need to sell possessions to raise the funds. Willingness to pay for cataract surgery among adults with operable cataract in rural Zamfara state is far lower than current costs of undergoing surgery. People who were widowed-most of whom were women-were willing to pay least. Further financial support is required for cataract surgery to be universally accessible.
Munch, Tina Nørgaard; Rostgaard, Klaus; Rasmussen, Marie-Louise Hee
The objective of the study was to investigate familial aggregation of primary congenital hydrocephalus in an unselected, nationwide population. Based on the Danish Central Person Register, we identified all children born in Denmark between 1978 and 2008 and their family members (up to third......-degree relatives). Information on primary congenital hydrocephalus was obtained from the National Patient Discharge Register. Using binomial log-linear regression, we estimated recurrence risk ratios of congenital hydrocephalus. An alternative log-linear regression model was applied to quantify the genetic effect...... and the maternal effect. Of 1 928 683 live-born children, 2194 had a diagnosis of idiopathic congenital hydrocephalus (1.1/1000). Of those, 75 (3.4%) had at least one other family member with primary congenital hydrocephalus. Significantly increased recurrence risk ratios of primary congenital hydrocephalus were...
Khan, S.; Ali, M.; Zaheer, N.
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)
Dr. Nikunj Patel
Full Text Available Brain imaging is most important tool for the accurate diagnosis of various congenital CNS infections. Infections of the foetal nervous system results in spectrum of findings that depends upon the inciting agent and the timing of infection. As a general rule earlier the infection, more severe are the findings. Congenital CMV infection can be diagnosed with accuracy with its specific features identified on brain imaging. We present a case of congenital CMV infection in an 8-months-old boy, its clinical presentation, imaging findings and laboratory reports. Specific literature review is included in order to point out major goals achieved in the diagnosis and prognosis of congenital CMV infection.
Background Usher syndrome (USH) is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing impairment and retinitis pigmentosa (RP). We have identified a consanguineous Lebanese family with two affected members displaying progressive hearing loss, RP and cataracts, therefore clinically diagnosed as USH type 3 (USH3). Our study was aimed at the identification of the causative mutation in this USH3-like family. Methods Candidate loci were identified using genomewide SNP-array-based homozygosity mapping followed by targeted enrichment and next-generation sequencing. Results Using a capture array targeting the three identified homozygosity-by-descent regions on chromosomes 1q43-q44, 20p13-p12.2 and 20p11.23-q12, we identified a homozygous nonsense mutation, p.Arg65X, in ABHD12 segregating with the phenotype. Conclusion Mutations of ABHD12, an enzyme hydrolyzing an endocannabinoid lipid transmitter, cause PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract). After the identification of the ABHD12 mutation in this family, one patient underwent neurological examination which revealed ataxia, but no polyneuropathy. ABHD12 is not known to be related to the USH protein interactome. The phenotype of our patient represents a variant of PHARC, an entity that should be taken into account as differential diagnosis for USH3. Our study demonstrates the potential of comprehensive genetic analysis for improving the clinical diagnosis. PMID:22938382
Eisenberger, Tobias; Slim, Rima; Mansour, Ahmad; Nauck, Markus; Nürnberg, Gudrun; Nürnberg, Peter; Decker, Christian; Dafinger, Claudia; Ebermann, Inga; Bergmann, Carsten; Bolz, Hanno Jörn
Usher syndrome (USH) is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing impairment and retinitis pigmentosa (RP). We have identified a consanguineous Lebanese family with two affected members displaying progressive hearing loss, RP and cataracts, therefore clinically diagnosed as USH type 3 (USH3). Our study was aimed at the identification of the causative mutation in this USH3-like family. Candidate loci were identified using genomewide SNP-array-based homozygosity mapping followed by targeted enrichment and next-generation sequencing. Using a capture array targeting the three identified homozygosity-by-descent regions on chromosomes 1q43-q44, 20p13-p12.2 and 20p11.23-q12, we identified a homozygous nonsense mutation, p.Arg65X, in ABHD12 segregating with the phenotype. Mutations of ABHD12, an enzyme hydrolyzing an endocannabinoid lipid transmitter, cause PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract). After the identification of the ABHD12 mutation in this family, one patient underwent neurological examination which revealed ataxia, but no polyneuropathy. ABHD12 is not known to be related to the USH protein interactome. The phenotype of our patient represents a variant of PHARC, an entity that should be taken into account as differential diagnosis for USH3. Our study demonstrates the potential of comprehensive genetic analysis for improving the clinical diagnosis.
Full Text Available Abstract Background Usher syndrome (USH is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing impairment and retinitis pigmentosa (RP. We have identified a consanguineous Lebanese family with two affected members displaying progressive hearing loss, RP and cataracts, therefore clinically diagnosed as USH type 3 (USH3. Our study was aimed at the identification of the causative mutation in this USH3-like family. Methods Candidate loci were identified using genomewide SNP-array-based homozygosity mapping followed by targeted enrichment and next-generation sequencing. Results Using a capture array targeting the three identified homozygosity-by-descent regions on chromosomes 1q43-q44, 20p13-p12.2 and 20p11.23-q12, we identified a homozygous nonsense mutation, p.Arg65X, in ABHD12 segregating with the phenotype. Conclusion Mutations of ABHD12, an enzyme hydrolyzing an endocannabinoid lipid transmitter, cause PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract. After the identification of the ABHD12 mutation in this family, one patient underwent neurological examination which revealed ataxia, but no polyneuropathy. ABHD12 is not known to be related to the USH protein interactome. The phenotype of our patient represents a variant of PHARC, an entity that should be taken into account as differential diagnosis for USH3. Our study demonstrates the potential of comprehensive genetic analysis for improving the clinical diagnosis.
Schallhorn, Julie M; Ciralsky, Jessica B; Yeu, Elizabeth
A survey was offered to attendees of the 2016 annual meeting of the American Society of Cataract and Refractive Surgery (ASCRS) as well as online to ASCRS members. Of the 429 self-identified surgeons in training or those with fewer than 5 years in practice, 83% had performed complex cataract surgery using iris expansion devices or capsular tension rings (63%) and 70% had implanted a toric intraocular lens (IOL). A minority of respondents had performed laser-assisted cataract surgery (27%) or implanted presbyopia-correcting IOLs (39%), and only half (50%) had performed laser vision correction (LVC). Comfort with complex cataract and IOL procedures improved with increasing number of cases performed until greater than 10 cases. From this we can conclude that young surgeons have adequate exposure to complex cataracts but lack experience in refractive surgery and new IOL technology. Reported surgeon confidence improved with increased experience and exposure. Copyright © 2017 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.
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
Sillesen, Nanna H; Hölmich, Lisbeth R; Siersen, Hans Erik
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....
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.
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.
Suzan Güven Yılmaz
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
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 ...
(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) ...
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 ...
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 ...
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 ...
Yang, Ji-Jiang; Li, Jianqiang; Shen, Ruifang; Zeng, Yang; He, Jian; Bi, Jing; Li, Yong; Zhang, Qinyan; Peng, Lihui; Wang, Qing
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.
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, ...
Venkatesh, Rengaraj; van Landingham, Suzanne W; Khodifad, Ashish M; Haripriya, Aravind; Thiel, Cassandra L; Ramulu, Pradeep; Robin, Alan L
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.
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.
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 ...
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.
Khan, Arif O; Aldahmesh, Mohammed A; Mohamed, Jawahir Y; Alkuraya, Fowzan S
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.
Zhou, Yin-Pin; He, Yang-Tao; Chen, Cheng-Li; Ji, Jun; Niu, Jian-Qin; Wang, Han-Zhi; Li, Shi-Feng; Huang, Lan; Mei, Feng
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.
Aiyub, Shereen; Chan, Wengonn; Szetu, John; Sullivan, Laurence J; Pater, John; Cooper, Peter; Selva, Dinesh
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.
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.
Rajesh Gupta, Fareed Malik, Rishabh Gupta, M.A.Basit, Dara Singh
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.
Jung, Hyun Sub; Chung, Young Sun; Suh, Chee Jang; Won, Jong Jin
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
Kurawa, Musbahu Sani; Abdu, Lawan
Objective/Purpose: To describe the demographic and baseline ocular characteristics, prevalence of blindness and visual impairment among patients undergoing extracapsular cataract extraction for age related cataract at the study hospital over a one year period. Materials/Patients: All consecutive patients aged 40 years and above identified with age related cataract in one or both eyes who voluntarily agree to participate were included. The study adhered to the tenets of the Helsinki declaration. Written informed consent was obtained from all eligible patients. All patients underwent basic eye examination by the ophthalmologist. Visual impairment was determined for each eye according to the standard WHO categorizations. Information obtained also included age, sex and history of previous cataract surgery. Data were recorded in manual tally sheets and on modified computer Cataract Surgery Record forms. Analyses were done using SPSS (version 16, SPSS Inc., Chicago, USA). The participation rate was 91.2%. There were 495 eyes of 487 consecutive patients. This include 212 males and 275 females (M:F, 1:1.3). The age range was 40 to 99 years with a mean age of 62.76 ± 10.49 years (61.35 ± 9.75 years in men and 63.85±10.9 years in females). Most of the patients (n = 451; 92.6%, 95% CI: 89.9-94.6%) were aged 50 years and above. Sixty patients (12.3%, 95% CI: 9.6-15.5%) had cataract in both eyes, 427 (87.7%, 95% CI: 84.5-90.3%) were in one eye. Among these, preoperatively 16 (3.3%, 95% CI: 2.0-5.3%) had aphakia, 21 (4.3%, 95% CI: 2.8-6.5%) had uniocular pseudophakia. About 63.2% (95% CI: 58.9-67.4%) of patients had normal vision in the better eye (presenting VA ≥6/18). Overall 9.5% (95% CI: 7.3-12.7%) were bilaterally blind. About 96.8% of eyes (95% CI: 94.5-98.0%) undergoing cataract surgery were blind (presenting VAConclusion: The study highlights preponderance of females and high incidence of blinding cataract. Education and early disease awareness may play an important
Man Hei Cheng
Full Text Available Cataract is the most common cause of visual loss in humans. A spontaneously occurred, autosomal dominant mouse mutant Secc, which displayed combined features of small eye, cataract and closed eyelid was discovered in our laboratory. In this study, we identified the mutation and characterized the cataract phenotype of this novel Secc mutant. The Secc mutant mice have eyelids that remain half-closed throughout their life. The mutant lens has a significant reduction in size and with opaque spots clustered in the centre. Histological analysis showed that in the core region of the mutant lens, the fiber cells were disorganized and clefts and vacuoles were observed. The cataract phenotype was evident from new born stage. We identified the Secc mutation by linkage analysis using whole genome microsatellite markers and SNP markers. The Secc locus was mapped at chromosome 1 flanked by SNPs rs3158129 and rs13475900. Based on the chromosomal position, the candidate cataract locus γ-crystallin gene cluster (Cryg was investigated by sequencing. A single base deletion (299delG in exon 3 of Cryga which led to a frame-shift of amino acid sequence from position 91 was identified. As a result of this mutation, the sequences of the 3rd and 4th Greek-key motifs of the γA-crystallin are replaced with an unrelated C-terminal peptide of 75 residues long. Coincidentally, the point mutation generated a HindIII restriction site, allowing the identification of the CrygaSecc mutant allele by RFLP. Western blot analysis of 3-week old lenses showed that the expression of γ-crystallins was reduced in the CrygaSecc mutant. Furthermore, in cell transfection assays using CrygaSecc mutant cDNA expression constructs in 293T, COS-7 and human lens epithelial B3 cell lines, the mutant γA-crystallins were enriched in the insoluble fractions and appeared as insoluble aggregates in the transfected cells. In conclusion, we have demonstrated that the Secc mutation leads to the
K. B. Pershin
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.
Makarenko, Nikolay; Liapidevskii, Valery; Morozov, Eugene; Tarakanov, Roman
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).
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.
Leivo, Tiina; Sarikkola, Anna-Ulrika; Uusitalo, Risto J; Hellstedt, Timo; Ess, Sirje-Linda; Kivelä, Tero
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.
Romanska-Kita, J.; Borszewska-Kornacka, M. K.; Rudzinska, I.; Wawrzoniak, T.; Dobrzanska, A.; Czech-Kowalska, J.
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)
Robl, Renata; Carvalho, Vânia Oliveira; Abagge, Kerstin Taniguchi; Uber, Marjorie; Lichtvan, Leniza Costa Lima; Werner, Betina; Mehrdad Nadji, Mehrdad
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.
Slagor, Rebekka Michaelsen; Dornonville de la Cour, Morten; Bonde, Jens Peter
.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...
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.
Shah, Manjool; Law, Geoffrey; Ahmed, Iqbal Ike K
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.
Full Text Available INTRODUCTION: Congenital eversion of the eyelids, a condition usually seen shortly after birth is a rare condition affecting one or both eyelids of the eye. Many etiologies have been described but no specific cause has been identified. We report a case of congenital eve rsion of eyelids which was managed conservatively with spontaneous correction seen in 6 days. KEYMESSAGE: Congenital eversion of the eyelids is a rare easily identifiable and potentially treatable condition. Decision of surgical intervention has to be take n with care and must be individualized for each case. Congenital eversion must be differentiated from congenital ectropion due to causes like ichthyosis as the treatment widely differs. All ophthalmologists need to be aware of this condition as it can be e asily managed on an outpatient basis
Bourne, Stephanie C.; Townsend, Katelin N.; Shyr, Casper; Matthews, Allison; Lear, Scott A.; Attariwala, Raj; Lehman, Anna; Wasserman, Wyeth W.; van Karnebeek, Clara; Sinclair, Graham; Vallance, Hilary; Gibson, William T.
We describe a woman who presented with cataracts, optic atrophy, lipodystrophy/lipoatrophy, and peripheral neuropathy. Exome sequencing identified a c.235C > G p.(Leu79Val) variant in the optic atrophy 3 (OPA3) gene that was confirmed to be de novo. This report expands the severity of the phenotypic spectrum of autosomal dominant OPA3 mutations.
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
Truscott, R.J.W.; Garner, B.; Hood, B.
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
Conway, Mandi D; Stern, Ethan; Enfield, David B; Peyman, Gholam A
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.
Murphy, Patricia; Kabir, Md Humayun; Srivastava, Tarini; Mason, Michele E; Dewi, Chitra U; Lim, Seakcheng; Yang, Andrian; Djordjevic, Djordje; Killingsworth, Murray C; Ho, Joshua W K; Harman, David G; O'Connor, Michael D
Cataracts cause vision loss and blindness by impairing the ability of the ocular lens to focus light onto the retina. Various cataract risk factors have been identified, including drug treatments, age, smoking and diabetes. However, the molecular events responsible for these different forms of cataract are ill-defined, and the advent of modern cataract surgery in the 1960s virtually eliminated access to human lenses for research. Here, we demonstrate large-scale production of light-focusing human micro-lenses from spheroidal masses of human lens epithelial cells purified from differentiating pluripotent stem cells. The purified lens cells and micro-lenses display similar morphology, cellular arrangement, mRNA expression and protein expression to human lens cells and lenses. Exposing the micro-lenses to the emergent cystic fibrosis drug Vx-770 reduces micro-lens transparency and focusing ability. These human micro-lenses provide a powerful and large-scale platform for defining molecular disease mechanisms caused by cataract risk factors, for anti-cataract drug screening and for clinically relevant toxicity assays. © 2018. Published by The Company of Biologists Ltd.
Ahmad, S.; Sabih, A.
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)
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)
McKeague, Marta; Sharma, Priya; Ho, Allen C
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.
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.
Full Text Available Congenital intestinal lymphangiectasia, first described by Waldmann et al. in 1961, is a rare congenital malformation of the lymphatics, presented with generalized edema, hypoproteinemia and lymphopenia. Diagnosis is based on endoscopy findings and pathology.We present here a case of a male neonate, second child of an indigenous woman, delivered by caesarean section. Prenatally, multiple cystic abdominal masses were identified by ultrasound. The patient was treated successfully with enterectomy and anastomosis. Histopathology revealed primary intestinal lymphangiectasia with no features of malignancy.Intestinal lymphangiectasia is a rare pathology, which should be differentiated while exploring abdominal masses, hypoproteinemia and edema especially in neonates.
Burnei, G; Gavriliu, S; Vlad, C; Georgescu, I; Ghita, RA; Dughilă, C; Japie, EM; Onilă, A
Congenital scoliosis represents a spinal malformation due to defects of formation, segmentation or mixed ones. It is characterized by a longitudinal and rotational imbalance. 54 patients were analyzed and 39 out of them were operated by various approaches with anterior and posterior instrumentations during 2000 and 2012. The impossibility to appoint some patients encountered in the daily practice into the known classifications, allowed us to purpose two categories of congenital scoliosis related to the predominance of spinal deviances in the coronal and transversal views. No certain etiology of congenital scoliosis has been identified until today. The susceptibility of some polygenic defects is obvious due to the presence of a sum of defects associated to most of the congenital scoliosis cases and the rarity of the presence of a unique defect. The diagnosis requires a thorough clinical and imaging examination in order to establish an individualized therapeutic strategy. The treatment of congenital scoliosis is different from the adolescent idiopathic one. Therapeutic criteria are significantly different. It is essential to assess the difference in growth of the concavity related to the convexity when choosing a particular procedure. The magnitude of the curve and the progressive rate are fundamental issues to the surgeon PMID:26351546
Bellah, R.; D'Andrea, A.; Children's Hospital, Boston, MA; Darillis, E.; Fellows, K.E.
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.)
Background: Congenital malformations are defects of morphogenesis of organs or body regions identifiable during the intrauterine life or after birth. The etiological factors proposed have varied in history based on prevailing understanding, culture, and religion. Worldwide historically, the role of the supernatural had been in ...
Talamo, Jonathan H; Gooding, Philip; Angeley, David; Culbertson, William W; Schuele, Georg; Andersen, Daniel; Marcellino, George; Essock-Burns, Emma; Batlle, Juan; Feliz, Rafael; Friedman, Neil J; Palanker, Daniel
To compare 2 optical patient interface designs used for femtosecond laser-assisted cataract surgery. Optimedica Corp., Santa Clara, California, USA, and Centro Laser, Santo Domingo, Dominican Republic. Experimental and clinical studies. Laser capsulotomy was performed during cataract surgery with a curved contact lens interface (CCL) or a liquid optical immersion interface (LOI). The presence of corneal folds, incomplete capsulotomy, subconjunctival hemorrhage, and eye movement during laser treatment were analyzed using video and optical coherence tomography. The induced rise of intraocular pressure (IOP) was measured in porcine and cadaver eyes. Corneal folds were identified in 70% of the CCL cohort; 63% of these had areas of incomplete capsulotomies beneath the corneal folds. No corneal folds or incomplete capsulotomies were identified in the LOI cohort. The mean eye movement during capsulotomy creation (1.5 sec) was 50 μm with a CCL and 20 μm with an LOI. The LOI cohort had 36% less subconjunctival hemorrhage than the CCL cohort. During suction, the mean IOP rise was 32.4 mm Hg ± 3.4 (SD) in the CCL group and 17.7 ± 2.1 mm Hg in the LOI group. Curved contact interfaces create corneal folds that can lead to incomplete capsulotomy during laser cataract surgery. A liquid interface eliminated corneal folds, improved globe stability, reduced subconjunctival hemorrhage, and lowered IOP rise. Copyright © 2013 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.
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.
Peretz, Isabelle; Vuvan, Dominique T
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.
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.
Bozorg, Sara; Pineda, Roberto
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.
Czeizel, A.E.; Rockenbauer, M.; Sørensen, Henrik Toft
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....
Eduardo Chaida Sonda
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.
Kim, Eun Chul; Byun, Yong Soo; Kim, Man Soo
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.
Cedin, Antonio C; Atallah, Alvaro N; Andriolo, Régis B; Cruz, Oswaldo L; Pignatari, Shirley N
Congenital choanal atresia is a rare abnormality characterized by unilateral or bilateral lack of patency of the posterior end of the nasal cavity. With an incidence of 1:5000 to 1:8000 births, it is twice as prevalent in females as it is in males. Surgical procedures aim to provide adequate functional choanal patency and a low rate of restenosis, avoid harm to any structure in development, enable shorter surgery and hospitalization times, and minimize morbidity and mortality. To evaluate the effectiveness and safety of the available surgical techniques for the treatment of congenital choanal atresia in patients with unilateral and bilateral atresia. We searched the Cochrane Ear, Nose and Throat Disorders Group Trials Register; the Cochrane Central Register of Controlled Trials (CENTRAL); PubMed; EMBASE; CINAHL; Web of Science; BIOSIS Previews; Cambridge Scientific Abstracts; ISRCTN and additional sources for published and unpublished trials. The date of the search was 31 January 2011. We planned to include parallel randomized or quasi-randomized controlled trials testing surgical approaches for the treatment of congenital atresia (irrespective of gender and age) that evaluated normal/adequate respiratory function (self reported or preserved nasal airway) and restenosis as the main primary outcomes. We did not consider reoperation and non-congenital atresia (e.g. traumatic, iatrogenic atresias) for inclusion. Three review authors independently assessed the titles and abstracts of the identified articles to determine potential relevance. For dichotomous and continuous variables, we planned to calculate risk ratios (relative risks; RR) and mean differences (MD) with 95% confidence intervals (CI), respectively. We planned to use the random-effects model since we were expecting substantial clinical and methodological heterogeneity. No randomized controlled trials were identified. From the 120 reports retrieved using our search strategy, 46 primary studies had the
Chodick, Gabriel; Sigurdson, Alice J.; Kleinerman, Ruth A.; Sklar, Charles A.; Leisenring, Wendy; Mertens, Ann C.; Stovall, Marilyn; Smith, Susan A.; Weathers, Rita E.; Veiga, Lene H. S.; Robison, Leslie L.; Inskip, Peter D.
With therapeutic successes and improved survival after a cancer diagnosis in childhood, increasing numbers of cancer survivors are at risk of subsequent treatment-related morbidities, including cataracts. While it is well known that the lens of the eye is one of the most radiosensitive tissues in the human body, the risks associated with radiation doses less than 2 Gy are less understood, as are the long- and short-term cataract risks from exposure to ionizing radiation at a young age. In this study, we followed 13,902 five-year survivors of childhood cancer in the Childhood Cancer Survivor Study cohort an average of 21.4 years from the date of first cancer diagnosis. For patients receiving radiotherapy, lens dose (mean: 2.2 Gy; range: 0–66 Gy) was estimated based on radiotherapy records. We used unconditional multivariable logistic regression models to evaluate prevalence of self-reported cataract in relationship to cumulative radiation dose both at five years after the initial cancer diagnosis and at the end of follow-up. We modeled the radiation effect in terms of the excess odds ratio (EOR) per Gy. We also analyzed cataract incidence starting from five years after initial cancer diagnosis to the end of follow-up using Cox regression. A total of 483 (3.5%) cataract cases were identified, including 200 (1.4%) diagnosed during the first five years of follow-up. In a multivariable logistic regression model, cataract prevalence at the end of follow-up was positively associated with lens dose in a manner consistent with a linear dose-response relationship (EOR per Gy = 0.92; 95% CI: 0.65–1.20). The odds ratio for doses between 0.5 and 1.5 Gy was elevated significantly relative to doses <0.5 Gy (OR = 2.2; 95% CI: 1.3–3.7). The results from this study indicate a strong association between ocular exposure to ionizing radiation and long-term risk of pre-senile cataract. The risk of cataract increased with increasing exposure, beginning at lens doses as low as 0
Dinesh Singh Chauhan
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.
Robson, Caroline D. [Children' s Hospital and Harvard Medical School, Division of Neuroradiology, Department of Radiology, Boston, MA (United States)
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.)
Ertl-Wagner, B.B.; Reiser, M.F.
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
Robson, Caroline D.
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.)
Michael J. Rutter
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.
... 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 ...
Gabriel van Rij
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.
Fahiano Montiani Ferreira
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.
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
Malekpour, Mahdi; Shahidi, Arash; Khorsandi Ashtiani, Mohammad Taghi; Motasaddi Zarandy, Masoud
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
Smith, Ronald J; McCannel, Colin A; Gordon, Lynn K; Hollander, David A; Giaconi, JoAnn A; Stelzner, Sadiqa K; Devgan, Uday; Bartlett, John; Mondino, Bartly J
To develop and assess the validity of an evaluation tool to assess quantitatively the hydrodissection and phacoemulsification portions of cataract surgery performed by residents. Case series. Jules Stein Eye Institute, Olive View-UCLA Medical Center, and Veterans Administration Medical Center, Los Angeles, California, USA. The UCLA ophthalmology faculty members were surveyed and the literature was reviewed to develop a grading tool consisting of 15 questions to evaluate surgical technique, including questions from the Global Rating Assessment of Skills in Intraocular Surgery and from the International Council of Ophthalmology's Ophthalmology Surgical Competency Assessment Rubric. Video clips of the hydrodissection and phacoemulsification portions of cataract surgery performed by 1 postgraduate year 2 (PGY2) resident, 1 PGY3 resident, 2 PGY4 residents, and an advanced surgeon were independently graded in a masked fashion by an 8-member faculty panel. Eleven of the 15 questions had a significant association with surgical experience level (Pinstrument handling, flow of operation, and nucleus rotation. Nucleus cracking also had low variability. Less directly visible tasks, especially 3-dimensional tasks, had wider interobserver variability. Surgical performance can be validly measured using an evaluation tool. Improved videography and studies to identify the best questions for evaluating each step of cataract surgery may help ophthalmic educators more precisely measure training outcomes for improving teaching interventions. No author has a financial or proprietary interest in any material or method mentioned. Published by Elsevier Inc.
Full Text Available 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 on two different dates. The quality of evidence was rated as low to very low. None of the studies reported the prevalence of postoperative anisometropia. In conclusion, we cannot provide evidence-based recommendations on the use of ISBCS due to the lack of high quality evidence. Therefore, the decision to perform ISBCS should be taken after careful discussion between the surgeon and the patient.
Santosa, I.; Romla, L.; Herawati, S.
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.
... 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 ...
Nair, Akshay Gopinathan; Praveen, Smita Vittal; Noronha, Veena Olma
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
Full Text Available AIM: To identify the 100 most cited papers in cataract surgery, we performed a comprehensive bibliometric analysis basing on the literature search on the Thomson Reuters Web of Knowledge. METHODS: The number of citations, including the total citations, latest 5y citations and average citation number per year (ACY, authorship, year of publication, major topics, journal of publication, country and institution of origin of each paper were recorded and then analyzed. Pearson’s correlation analysis was conducted to evaluate the correlation between the published year and the number of citations. The correlation between journal’s impact factor (IF and number of citations was assessed as well. RESULTS: The most cited paper was the classic paper done by the European Society of Cataract & Refractive Surgeons (ESCRS group. This paper focused on the topic of endophthalmitis. Not only the most cited papers originated from the USA, but also some American institutions like Johns Hopkins University, Harvard Medical School, etc. had the most citations. Pearson’s correlation analysis indicated that the latest 5y citations and ACY were significantly related with the published year (5y citations: r=0.615, P<0.001; ACY: r=0.657, P<0.001, whereas no association between the total number of citations and published year was found (r=0.045. Moreover, the IFs of journals were found to have no significant effect on the number of total citations. CONCLUSION: To our knowledge, this is the first study on the most influential papers in cataract surgery after a comprehensive research of relevant literatures. The present work may provide us concise information concerning the development history of cataract surgery over the past 66y.
Bonnell, Levi N; SooHoo, Jeffrey R; Seibold, Leonard K; Lynch, Anne M; Wagner, Brandie D; Davidson, Richard S; Taravella, Michael J
To evaluate the relationship between 1-day postoperative intraocular pressure (IOP) after phacoemulsification cataract surgery and tamsulosin use. University of Colorado Health Eye Center, Aurora, Colorado, USA. Retrospective cohort study. Registry data from men who had cataract surgery were used. Patients taking tamsulosin at the time of surgery were included as cases, while patients with no history of tamsulosin use were used as controls. The primary outcome was a 1-day postoperative IOP spike defined as an IOP increase greater than 10 mm Hg compared with baseline or a 1-day postoperative IOP of 30 mm Hg or higher. General estimating equations were used for analysis. The study comprised 584 men (864 eyes). An IOP increase greater than 10 mm Hg or IOP 30 mm Hg or higher after cataract surgery occurred in 12.4% and 9.3%, respectively, of eyes in the tamsulosin group versus 4.4% and 2.1%, respectively, in the control group (all P = .001). After adjusting for significant covariates, patients on tamsulosin were 2.6 times (95% confidence interval [CI], 1.2-5.7; P = .01] and 3.8 (95% CI, 1.3-10.9; P = .01) more likely to have a 1-day postoperative IOP increase greater than 10 mm Hg or a 1-day postoperative IOP of 30 mm Hg or higher. Patients on tamsulosin had an increased risk of a 1-day postoperative IOP spike after cataract surgery, showing the importance of identifying patients on tamsulosin preoperatively to better manage and potentially mitigate IOP spikes. None of the authors has a financial or proprietary interest in any material or method mentioned. Copyright © 2016 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.
Wang, Yan; Cao, Li; Liang, Dong; Meng, Lulu; Wu, Yun; Qiao, Fengchang; Ji, Xiuqing; Luo, Chunyu; Zhang, Jingjing; Xu, Tianhui; Yu, Bin; Wang, Leilei; Wang, Ting; Pan, Qiong; Ma, Dingyuan; Hu, Ping; Xu, Zhengfeng
Currently, chromosomal microarray analysis is considered the first-tier test in pediatric care and prenatal diagnosis. However, the diagnostic yield of chromosomal microarray analysis for prenatal diagnosis of congenital heart disease has not been evaluated based on a large cohort. Our aim was to evaluate the clinical utility of chromosomal microarray as the first-tier test for chromosomal abnormalities in fetuses with congenital heart disease. In this prospective study, 602 prenatal cases of congenital heart disease were investigated using single nucleotide polymorphism array over a 5-year period. Overall, pathogenic chromosomal abnormalities were identified in 125 (20.8%) of 602 prenatal cases of congenital heart disease, with 52.0% of them being numerical chromosomal abnormalities. The detection rates of likely pathogenic copy number variations and variants of uncertain significance were 1.3% and 6.0%, respectively. The detection rate of pathogenic chromosomal abnormalities in congenital heart disease plus additional structural anomalies (48.9% vs 14.3%, P congenital heart disease group. Additionally, the detection rate in congenital heart disease with additional structural anomalies group was significantly higher than that in congenital heart disease with soft markers group (48.9% vs 19.8%, P congenital heart disease with additional structural anomalies and congenital heart disease with intrauterine growth retardation groups (48.9% vs 50.0%), congenital heart disease with soft markers and congenital heart disease with intrauterine growth retardation groups (19.8% vs 50.0%), or congenital heart disease with soft markers and isolated congenital heart disease groups (19.8% vs 14.3%). The detection rate in fetuses with congenital heart disease plus mild ventriculomegaly was significantly higher than in those with other types of soft markers (50.0% vs 15.6%, P congenital heart disease in clinical practice. Copyright © 2017 Elsevier Inc. All rights reserved.
Grześk, Magdalena; Kałuzny, Józef; Malukiewicz-Wiśniewska, Grazyna
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.
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.
Obuchowska, Iwona; Mariak, Zofia
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.
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)....
Rasmussen, Bo Sonnich; Henriksen, Trine Foged; Kølle, Stig-Frederik Trojahn
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...
Rosa, Peter A; Hirsch, David L; Dierks, Eric J
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.
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.
Wong, H.F.; Ng, S.H.; Wai, Y.Y.; Wan, Y.L.; Kong, M.S.
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.)
Chaudhry, A.K.; Azam, M.; Maqsood, R.; Naz, B.; Salam, A.
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)
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.”
Dammeyer, Jesper Herup
. 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...
van Zyl, Lourens; Kahawita, Shyalle; Goggin, Michael
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.
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.
Willich, Stefan N.
Full Text Available Background: The cataract (Cataracta senilis is the most frequent eye disease of elderly people worldwide. In Germany, the cataract operation - with currently 450,000 interventions each year the most frequent operation in ophthalmology – can be seen as routine surgery. The age related macular degeneration (AMD is a further one of the most common, age-related eye diseases and the most frequent cause of blindness of elderly people in industrial nations. Due to demographic changes an increasing number of patients will suffer from cataract and AMD at the same time. This coincidence leads to a greater interest in the question of a mutual influence of both diseases, respectively their therapies, on each other. Objectives: The aim of this report was the evaluation of the medical and health economic effects of cataract operations on the development and progression of an age related macular degeneration (AMD. It was differentiated between first manifestations of AMD, progression of early stages of AMD and influence on further impairment in late stages of AMD. Methods: The relevant publications for this report were identified by DIMDI via structured database enquiry as well as common, self-made enquiry and were evaluated, based on the criteria of evidence based medicine. The present report included German and English literature published since 1983. Results: The database enquiry generated a record of 2769 issue-related publications. Eight medical publications were eligible for analysis in the course of the present HTA report. No relevant studies on health economical, ethical, social or legal issues could be included. Three epidemiological cohort studies provided some evidence for a promoting influence of cataract extractions on the progression of early types of AMD. Two of the epidemiological studies assessed the risk of first manifestation of AMD after cataract extraction. Both came up with up with increased incidences that did not reach statistical
Donnelly, William J., III
Purpose. The purpose of this research is to determine if Shack/Hartmann (S/H) wavefront sensing (SHWS) can be used to objectively quantify ocular forward scatter. Methods. Patient S/H images from an study of nuclear cataract were analyzed to extract scattering data by examining characteristics of the lenslet point spread functions. Physical and computer eye models with simulated cataract were developed to control variables and to test the underlying assumptions for using SHWS to measure aberrations and light scatter from nuclear cataract. Results. (1) For patients with nuclear opalescence (NO) >=2.5, forward scatter metrics in a multiple regression analysis account for 33% of variance in Mesopic Low Contrast acuity. Prediction of visual acuity was improved by employing a multiple regression analysis that included both backscatter and forward scatter metrics (R2 = 51%) for Mesopic High Contrast acuity. (2) The physical and computer models identified areas of instrument noise (e.g., stray light and unwanted reflections) improving the design of a second generation SHWS for measuring both wavefront error and scatter. (3) Exposure time had the most influence on, and pupil size had negligible influence on forward scatter metrics. Scatter metric MAX_SD predicted changes in simulated cataract up to R2 = 92%. There were small but significant differences (alpha = 0.05) between 1.5-pass and 1-pass wavefront measurements inclusive of variable simulated nuclear cataract and exposure; however, these differences were not visually significant. Improvements to the SHWS imaging hardware, software, and test protocol were implemented in a second generation SHWS to be used in a longitudinal cataract study. Conclusions. Forward light scatter in real eyes can be quantified using a SHWS. In the presence of clinically significant nuclear opalescence, forward scatter metrics predicted acuity better than the LOCS III NO backscatter metric. The superiority of forward scatter metrics over back
Gower, Emily W; Lindsley, Kristina; Tulenko, Samantha E; Nanji, Afshan A; Leyngold, Ilya; McDonnell, Peter J
Background Endophthalmitis is a severe inflammation of the anterior or posterior (or both) chambers of the eye that may be sterile or associated with infection. It is a potentially vision-threatening complication of cataract surgery. Prophylactic measures for endophthalmitis are targeted against various sources of infection. Objectives To evaluate the effects of perioperative antibiotic prophylaxis for endophthalmitis following cataract surgery compared with no prophylaxis or other form of prophylaxis. Search methods We searched CENTRAL (which contains the Cochrane Eyes and Vision Trials Register) (2016, Issue 12), Ovid MEDLINE, Epub Ahead of Print, In-Process & Other Non-Indexed Citations, Ovid MEDLINE Daily (January 1946 to December 2016), Embase (January 1980 to December 2016), Latin American and Caribbean Health Sciences Literature Database (LILACS) (1982 to December 2016),the ISRCTN registry (www.isrctn.com/editAdvancedSearch), ClinicalTrials.gov (www.clinicaltrials.gov), and the World Health Organization (WHO) International Clinical Trials Registry Platform (ICTRP) (www.who.int/ictrp/search/en). We used no date or language restrictions in the electronic searches for trials. We last searched the electronic databases on 6 December 2016. We also searched for additional studies that cited any included trials using the Science Citation Index. Selection criteria We included randomized controlled trials that enrolled adults undergoing cataract surgery (any method and incision type) for lens opacities due to any origin. We included trials that evaluated preoperative antibiotics, intraoperative (intracameral, subconjunctival or systemic), or postoperative antibiotic prophylaxis for acute endophthalmitis. We excluded studies that evaluated antiseptic preoperative preparations using agents such as povidone iodine or antibiotics for treating acute endophthalmitis after cataract surgery. Data collection and analysis Two review authors independently reviewed abstracts and
Van Esch, Hilde; Jansen, Anna; Bauters, Marijke; Froyen, Guy; Fryns, Jean-Pierre
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.
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.
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
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.
Koucheki, Behrooz; Nouri-Mahdavi, Kouros; Patel, Gitane; Gaasterland, Douglas; Caprioli, Joseph
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.
Full Text Available Rural populations in low-income countries commonly suffer from the co-morbidity of neglected tropical diseases (NTDs. Podoconiosis, trachomatous trichiasis (both NTDs and cataract are common causes of morbidity among subsistence farmers in the highlands of northern Ethiopia. We explored whether podoconiosis was associated with cataract or trachomatous trichiasis (TT among this population.A comparative cross-sectional study was conducted in East Gojam region, Amhara, Ethiopia in May 2016. Data were collected from patients previously identified as having podoconiosis and from matched healthy neighbourhood controls. Information on socio-demographic factors, clinical factors and past medical history were collected by an interview-administered questionnaire. Clinical examination involved grading of podoconiosis by examination of both legs, measurement of visual acuity, direct ophthalmoscopy of dilated pupils to grade cataract, and eyelid and corneal examination to grade trachoma. Multiple logistic regression was conducted to estimate independent association and correlates of podoconiosis, TT and cataract.A total of 700 participants were included in this study; 350 podoconiosis patients and 350 healthy neighbourhood controls. The prevalence of TT was higher among podoconiosis patients than controls (65 (18.6% vs 43 (12.3% with an adjusted odds ratio OR 1.57 (95% CI 1.02-2.40, p = 0.04. There was no significant difference in prevalence of cataract between the two populations with an adjusted OR 0.83 (95% CI 0.55-1.25, p = 0.36. Mean best visual acuity was 0.59 (SD 0.06 in podoconiosis cases compared to 0.44 (SD 0.04 in controls, p<0.001. The proportion of patients classified as blind was higher in podoconiosis cases compared with healthy controls; 5.6% vs 2.0%; adjusted OR 2.63 (1.08-6.39, P = 0.03.Individuals with podoconiosis have a higher burden of TT and worse visual acuity than their matched healthy neighbourhood controls. Further research into
Eggermann, Thomas; Netchine, Irène; Temple, I Karen
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...
Popović Dušan Đ.
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.
Popović, Dugan D j; Spuran, Milan; Alempijević, Tamara; Krstić, Miodrag; Djuranović, Srdjan; Kovacević, Nada; Damnjanović, Svetozar; Micev, Marjan
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.
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)
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.)
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.
Kline-Fath, Beth M.
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.)
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 ...
Muhammad, Emad; Reish, Orit; Ohno, Yusuke; Scheetz, Todd; DeLuca, Adam; Searby, Charles; Regev, Miriam; Benyamini, Lilach; Fellig, Yakov; Kihara, Akio; Sheffield, Val C.; Parvari, Ruti
Congenital myopathies are heterogeneous inherited diseases of muscle characterized by a range of distinctive histologic abnormalities. We have studied a consanguineous family with congenital myopathy. Genome-wide linkage analysis and whole-exome sequencing identified a homozygous non-sense mutation in 3-hydroxyacyl-CoA dehydratase 1 (HACD1) in affected individuals. The mutation results in non-sense mediated decay of the HACD1 mRNA to 31% of control levels in patient muscle and completely abro...
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
Lee, Hankil; Jang, Yong Jung; Lee, Hyung Keun; Kang, Hye Young
Age-related eye disease is often considered part of natural aging. Lack of awareness of eye conditions can result in missed treatment. We investigated the rates of awareness of cataract and age-related macular degeneration, the most common age-related eye-diseases, and the associated factors among elderly Koreans. We identified 7,403 study subjects (≥40 years old) with cataract or age-related macular degeneration based on ophthalmic examination results during the 5th Korean National Health and Nutrition Examination Survey conducted between 2010 and 2012. We assessed whether patients were aware of their eye condition based on a previous diagnosis by a physician. The average awareness rate over the 3-year study period was 23.69% in subjects with cataract and 1.45% in subjects with age-related macular degeneration. Logistic regression analysis showed that patients with cataract were more likely to recognize their condition if they had myopia (odds ratio, 2.08), hyperopia (odds ratio, 1.33), family history of eye disease (odds ratio, 1.44), or a past eye examination (odds ratio, 4.07-29.10). The presence of diabetes mellitus was also a significant predictor of patient awareness of cataract (odds ratio, 1.88). Poor patient recognition of eye disease among the Korean elderly highlights the seriousness of this potential public health problem in our aging society. Pre-existing eye-related conditions and diabetes were significant predictors of awareness; therefore, patients in frequent contact with their doctors have a greater chance of detecting eye disease. © 2017 The Korean Ophthalmological Society
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
Kanclerz, Piotr; Grzybowski, Andrzej; Schwartz, Stephen G; Lipowski, Paweł
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.
Kahawita, Shyalle K; Goggin, Michael
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.
Khandekar, Rajiv; Sudhan, Anand; Jain, B K; Deshpande, Madan; Dole, Kuldeep; Shah, Mahul; Shah, Shreya
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.
Cetinel, Sibel; Montemagno, Carlo
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.
Singh, Ranjodh; Dohlman, Thomas H; Sun, Grace
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.
Wesolosky, Jason D; Rudnisky, Christopher J
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.
Hatch, Kathryn M; Talamo, Jonathan H
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.
Wu, Wayne; Dawson, Daniel G; Sugar, Alan; Elner, Susan G; Meyer, Kathy A; McKey, Jesse B; Moroi, Sayoko E
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.
Bianca C. Martins
Full Text Available Ultrasonography of the lens and posterior segment is an indispensable step in the preoperative evaluation of dogs with cataracts, since ophthalmoscopy is not feasible when there is opacification of the lens. This study evaluated the echographic conditions of cataractous lens and fundus of the eye in dogs affected by cataracts. The study was conducted in 30 dogs (56 eyes, 10 males and 20 females, with different types of cataracts at different stages of development. Echography in A and B modes, simultaneously, was carried out for the examination of the lens and posterior segment. The examinations revealed anterior cortical, posterior cortical and nuclear cataract in 12 eyes (21.4%, anterior cortical, posterior cortical, nuclear and posterior capsular in 23 eyes (41%, anterior cortical, posterior cortical and posterior capsular cataract in one eye (1.7%, anterior cortical and nuclear cataract in one eye (1.7%, anterior cortical, nuclear and posterior capsular cataract in five eyes (8.9%, and anterior cortical cataract in seven eyes (12.5%. Abnormal ultrasonographic alterations were observed in the posterior segment in 26 eyes evaluated (46.4%. Vitreal degeneration was detected in 12 eyes (21.4%, images of vitreal exudate or hemorrhage in seven eyes (12.5%, persistence of hyaloid artery in four eyes (7.1% and lens subluxation in three eyes (5.3%. The results obtained reiterate the importance of ultrasonography in canine patients presented for cataract surgery given that alterations of the posterior segment are difficult to identify in a clinical examination when the lens is opacified.A ultrassonografia do segmento posterior do bulbo do olho é etapa indispensável na avaliação de cães com catarata que serão submetidos à facectomia, uma vez que a oftalmoscopia não é factível quando há opacificação da lente, notadamente nas cataratas maduras. Este estudo avaliou as condições ecográficas da lente cataratogênica e do fundo de olho de c
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.
... 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 ...
Lehmann, Philipp; Boraty?ski, Zbyszek; Mappes, Tapio; Mousseau, Timothy A.; M?ller, Anders P.
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...
Background Control programs have been executed in an attempt to reduce vertical transmission and the severity of congenital infection in regions with a high incidence of toxoplasmosis in pregnant women. We aimed to evaluate whether treatment of pregnant women with spiramycin associated with a lack of monitoring for toxoplasmosis seroconversion affects the prognosis of patients. Methods We performed a prospective cohort study with 246 newborns (NB) at risk for congenital toxoplasmosis in Goiânia (Brazil) between October 2003 and October 2011. We analyzed the efficacy of maternal treatment with spiramycin. Results A total of 40.7% (66/162) of the neonates were born seriously infected. Vertical transmission associated with reactivation during pregnancy occurred in 5.5% (9/162) of the NB, with one showing severe infection (systemic). The presence of specific immunoglobulins (fetal IgM and NB IgA) suggested the worst prognosis. Treatment of pregnant women by spiramycin resulted in reduced vertical transmission. When infected pregnant women did not undergo proper treatment, the risk of severe infection (neural-optical) in NB was significantly increased. Fetal IgM was associated with ocular impairment in 48.0% (12/25) of the fetuses and neonatal IgA-specific was related to the neuro-ophthalmologic and systemic forms of the disease. When acute toxoplasmosis was identified in the postpartum period, a lack of monitoring of seronegative pregnant women resulted in a higher risk of severe congenital infection. Conclusion Treatment of pregnant women with spiramycin reduces the possibility of transmission of infection to the fetus. However, a lack of proper treatment is associated with the onset of the neural-optical form of congenital infection. Primary preventive measures should be increased for all pregnant women during the prenatal period and secondary prophylaxis through surveillance of seroconversion in seronegative pregnant woman should be introduced to reduce the
Fan, Wen-Shuang; Chang, Chung-Hao; Horng, Chi-Ting; Yao, Hsin-Yu; Sun, Han-Ying; Huang, Shu-Fang; Wang, Hsiang-Chen
We designed a crystalline microstructure during cataract lesions and calculated the aberration value of the eye by using ray trace modeling to identify the corresponding spherical aberration, coma aberration, and trefoil aberration value under different pathological-change degrees. The mutual relationship between microstructure and aberration was then discussed using these values. Calculation results showed that with increased layer number of microstructure, the influence of aberration value on spherical aberration was the greatest. In addition, the influence of a relatively compact microstructure on spherical aberration and coma aberration was small, but that on trefoil aberration was great.
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.
Stubbe, J.H.; Brouwer, W.; Delnoij, D.M.J.
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
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.
Features of Somatic and Reproductive Status of Women, who Gave Birth to a Child with Congenital Malformations, and Their Identifiсation Using «Case — Control» Method According to Data of Lviv Regional Clinical Perinatal Center in 2007–2009
Zborovska N.V. Zborovska N.V.
While comparing a range of reproductive anamnesis indices there was noticed a higher percentage of dead children, stillbirths, anemia in pregnancy, gestosis in the first half of pregnancy, gestosis in the second half of pregnancy, abnormal labors in mothers who gave birth to a child with congenital malformations than in women of control group. According to ultrasound diagnosis congenital abnormalities in pregnancy were detected in 31.6 % of cases. There were diagnosed 4 cases of Arnold — Chiari syndrome (spina bifida and internal hydrocephalus; and 3 cases of each: hydrocephalus, gastroschisis, small intestinal atresia, and 2 cases of each: congenital malformations, hypoplastic left heart syndrome, Down’s syndrome, congenital diaphragmatic hernia, omphalocele, congenital rectal atresia, and 1 case of each: spina bifida, congenital absence of forearm and hand, left ventricular rabdomioma, encephalocele.
Yoo, Sonia H; Bhatt, Anand B
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.
Grzybowski, Andrzej; Wasinska-Borowiec, Weronika; Claoué, Charles
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.
Bekibele, C O; Fasina, O
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.
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
Roberts, Timothy V; Lawless, Michael; Chan, Colin Ck; Jacobs, Mark; Ng, David; Bali, Shveta J; Hodge, Chris; Sutton, Gerard
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.
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.)
Central Core Disease; Centronuclear Myopathy; Congenital Fiber Type Disproportion; Multiminicore Disease; Myotubular Myopathy; Nemaline Myopathy; Rigid Spine Muscular Dystrophy; Undefined Congenital Myopathy
... with mental retardation Muscular dystrophy, congenital, Fukuyama type Muscular dystrophy, congenital, with central nervous system involvement Polymicrogyria with muscular dystrophy Related Information How ...
Kaltenbrun, Erin; Tandon, Panna; Amin, Nirav M.; Waldron, Lauren; Showell, Chris; Conlon, Frank L.
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
Ji Yaping; Zhuge Moyi
Objective: To explore the method of radiological diagnosis of early attacking congenital syphilis. Methods: Seven cases of early attacking congenital syphilis of bone were retrospectively analyzed, diagnosed serologically, and were taken X-rays of the long bones. Results: Bone radiographs abnormalities were identified in 6 of 7 cases. Five cases suffered periotities, six cases metaphysitis, and three cases combined with diaphysitis. Seven cases had swollen soft tissue. The vertebraes, craniums and epiphysitis were not found abnormal in 7 cases. Diffusion, multiple and symmetric metaphysitis, periosteitis and osteitis were the radiological characters of congenital syphilis of bone. Conclusion: Radiography can affirm the diagnose of early attacking congenital syphilis and definite the arrange and depth. Radiographs of the extremities should be routinely taken in suspected infants. (authors)
de Jong, Josta; Garne, Ester; Wender-Ozegowska, Ewa
Insulin analogues are commonly used in pregnant women with diabetes. It is not known if the use of insulin analogues in pregnancy is associated with any higher risk of congenital anomalies in the offspring compared with use of human insulin. We performed a literature search for studies of pregnant...... women with pregestational diabetes using insulin analogues in the first trimester and information on congenital anomalies. The studies were analysed to compare the congenital anomaly rate among foetuses of mothers using insulin analogues with foetuses of mothers using human insulin. Of 29 studies, we...... samples in the included studies provided insufficient statistical power to identify a moderate increased risk of specific congenital anomalies. Copyright © 2015 John Wiley & Sons, Ltd....
Egbe, Alexander; Lee, Simon; Ho, Deborah; Uppu, Santosh; Srivastava, Shubhika
There is a known association between congenital heart disease (CHD) and other congenital anomalies (CA). These associations have been altered by changes in prenatal factors in recent time. We reviewed the largest database of inpatient hospitalization information and analyzed the current association between common CHD diagnoses and other congenital anomalies. Case-control study design. We reviewed the Nationwide Inpatient Sample (NIS) database from 1998 to 2008 and identified all live births with CHD diagnosis (case) and live births without CHD diagnosis (control). We compared prevalence of associated congenital anomalies between the case and control groups. Our cohort consisted of 97,154 and 12,078,482 subjects in the case and control groups, respectively. In the CHD population, prevalence of non-syndromic congenital anomaly (NSCA), genetic syndrome (GS), and overall extra-cardiac congenital anomaly (CA) were 11.4, 2.2, and 13.6%, respectively. In the control group, prevalence of NSCA, GS, and CA were 6.7, 0.3, and 7.0%, respectively. NSCA (odds ratio (OR): 1.88, confidence interval (CI): 1.73-1.94), GS (OR 2.52, CI 2.44-2.61), and overall CA (OR: 2.01, CI: 1.97-2.14) were strongly associated with CHD. Prevalence of GS and multiple organ-system CA decreased significantly over the study period. This is the largest and most comprehensive population-based study evaluating association between CHD and extra-cardiac malformation (ECM) in newborns. There was significant decrease in prevalence of GS and multiple CA over the study period
Full Text Available BACKGROUND: Acute endophthalmitis is one of the most serious complications of cataract surgery and often results in severe visual impairment. Several risk factors for acute postoperative endophthalmitis (POE following cataract surgery have been reported but the level of evidence and strength of association is varied. The purpose of this study was to critically appraise published reports on and to summarize clinical risk factors associated with acute POE which could be easily assessed by ophthalmologists for the introduction and implementation of preventive measure. METHODS: A systematic review and meta-analysis of observational studies was performed. Six databases were searched with no limits on the year or language of publication. Study-specific odds ratios (Ors or relative risk (RR of each risk factor were pooled using a random effect model. RESULTS: A total of 6 686 169 participants with 8 963 endophthalmitis in 42 studies were analyzed. Of the nine risk factors identified in our systematic review and meta-analysis, extra- or intracapsular cataract extraction, a clear corneal incision, without intracameral cefazolin (1 mg in 0.1 ml solution, without intracameral cefuroxime (1 mg in 0.1 ml solution, post capsular rupture, silicone intraocular lenses and intraoperative complications were found strongly associated with acute endophthalmitis. Other significant factors with a lower strength of association (risk estimates generally 1.5 or less were male gender and old age (85 years and older. CONCLUSIONS: Our study provides summary data on the risk factors for acute POE. Identifying patients at high risk of this sight-threatening eye disease is important from both the public health and clinical perspectives as this would facilitate detection of disease before the onset of irreversible visual loss enabling earlier intervention.
Li, Guoxing; Song, Huiyang; Chen, Lei; Yang, Weihua; Nan, Kaihui; Lu, Peirong
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.
Garcia-Arumi, Jose; Fonollosa, Alex; Sararols, Laura; Fina, Francesc; Martínez-Castillo, Vicente; Boixadera, Ana; Zapata, Miguel A; Campins, Magda
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.
Kleiman, Norman Jay [Columbia University
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
Akhavan Karbasi Sedighah
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.
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.
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.
Selma Feldman Witchel
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.
Lee, Tiffany; Bell, Stephanie; Scimeme, Jason; Maraqa, Nizar
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.
... 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 ...
Rodrigo Rizek Schultz
Full Text Available Abstract Prosopagnosia is a visual agnosia characterized by an inability to recognize previously known human faces and to learn new faces. The aim of this study was to present a forty-six year-old woman with congenital prosopagnosia, and to discuss the neural bases of perception and recognition of faces. The patients had a lifetime impairment in recognizing faces of family members, close friends, and even her own face in photos. She also had impairment in recognizing animals such as discriminating between cats and dogs. The patient's basic visual skills showed impairment in identifying and recognizing the animal form perception on the coding subtest of the WAIS-R, recognizing overlapping pictures (Luria, and in identifying silhouettes depicting animals and objects (VOSP. Unconventional tests using pictures evidenced impairment in her capacity to identify famous faces, facial emotions and animals. Her face perception abilities were preserved, but recognition could not take place. Therefore, it appears that the agnosia in this case best fits the group of categories termed "associative".
Kendrick, R; Kollarits, C R; Khan, N
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.
Fernando Antonio de M. Leal
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
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
Iqbal, W.; Khan, F.; Muzaffar, M.; Khan, U. A.; Rehman, M. U.; Khan, M. A.; Bari, A.
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)
Full Text Available Congenital myopathies are severe muscle disorders affecting adults as well as children in all populations. The diagnosis of congenital myopathies is constrained by strong clinical and genetic heterogeneity. Moreover, the majority of patients present with unspecific histological features, precluding purposive molecular diagnosis and demonstrating the need for an alternative and more efficient diagnostic approach. We used exome sequencing complemented by histological and ultrastructural analysis of muscle biopsies to identify the causative mutations in eight patients with clinically different skeletal muscle pathologies, ranging from a fatal neonatal myopathy to a mild and slowly progressive myopathy with adult onset. We identified RYR1 (ryanodine receptor mutations in six patients and NEB (nebulin mutations in two patients. We found novel missense and nonsense mutations, unraveled small insertions/deletions and confirmed their impact on splicing and mRNA/protein stability. Histological and ultrastructural findings of the muscle biopsies of the patients validated the exome sequencing results. We provide the evidence that an integrated strategy combining exome sequencing with clinical and histopathological investigations overcomes the limitations of the individual approaches to allow a fast and efficient diagnosis, accelerating the patient's access to a better healthcare and disease management. This is of particular interest for the diagnosis of congenital myopathies, which involve very large genes like RYR1 and NEB as well as genetic and phenotypic heterogeneity.
Alsubhi, Sarah; Alhashem, Amal; Faqeih, Eissa; Alfadhel, Majid; Alfaifi, Abdullah; Altuwaijri, Waleed; Alsahli, Saud; Aldhalaan, Hesham; Alkuraya, Fowzan S; Hundallah, Khalid; Mahmoud, Adel; Alasmari, Ali; Mutairi, Fuad Al; Abduraouf, Hanem; AlRasheed, Layan; Alshahwan, Saad; Tabarki, Brahim
We retrospectively reviewed Saudi patients who had a congenital disorder of glycosylation (CDG). Twenty-seven Saudi patients (14 males, 13 females) from 13 unrelated families were identified. Based on molecular studies, the 27 CDG patients were classified into different subtypes: ALG9-CDG (8 patients, 29.5%), ALG3-CDG (7 patients, 26%), COG6-CDG (7 patients, 26%), MGAT2-CDG (3 patients, 11%), SLC35A2-CDG (1 patient), and PMM2-CDG (1 patient). All the patients had homozygous gene mutations. The combined carrier frequency of CDG for the encountered founder mutations in the Saudi population is 11.5 per 10,000, which translates to a minimum disease burden of 14 patients per 1,000,000. Our study provides comprehensive epidemiologic information and prevalence figures for each of these CDG in a large cohort of congenital disorder of glycosylation patients. © 2017 Wiley Periodicals, Inc.
Karstensen, H G; Tommerup, N
. Despite a strong degree of heritability, no human disease-causing mutations have been identified. Anosmia is part of the clinical spectrum in various diseases, as seen in Kallmann syndrome, various ciliopathies and congenital insensitivity to pain. This review will focus on ICA through already published......Loss of smell (anosmia) is common in the general population and the frequency increases with age. A much smaller group have no memory of ever being able to smell and are classified as having isolated congenital anosmia (ICA). Families are rare, and tend to present in a dominant inheritance pattern...... families and cases as well as syndromes where anosmia is part of the clinical disease spectrum. Furthermore, olfactory signal transduction pathway genes and animal models may shed light on potential candidate genes and pathways involved in ICA....
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
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)
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.)
Murray, Conor P.; Yoo, Shi-Joon; Babyn, Paul S.
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.)
Krarup, Therese; Holm, Lars Morten; la Cour, Morten
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...
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.
Sawhney, Gagan K; Hutchinson, Amy K; Lambert, Scott R
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.
Mandracchia, B.; Finizio, A.; Ferraro, P.
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.
At clinically relevant concentrations, volatile anaesthetic agents influence neutrophil function. Our hypothesis was that sevoflurane would inhibit neutrophil apoptosis and consequently influence the postoperative pro-inflammatory state. In order to identify selectively the effect of the anaesthetic agent sevoflurane, we studied patients undergoing minimally stimulating (cataract) surgery randomly allocated to receive either sevoflurane (n = 11) or local anaesthesia (n = 12). Venous blood samples were taken immediately prior to anaesthesia and at 1, 8 and 24 h thereafter. The rate of neutrophil apoptosis, plasma concentration of cytokines and differential white cell count were measured. The rates of neutrophil apoptosis and plasma concentrations of IL-1beta, TNF-alpha and IL-8 at each time point were similar in the two groups. IL-6 concentrations increased significantly and to a similar extent compared to preanaesthetic levels at 8 and 24 h. This study demonstrates that sevoflurane does not influence the rate of neutrophil apoptosis, cytokine concentrations and neutrophil count following cataract surgery.
Full Text Available AIM: To evaluate the sterilizing effects of 50g/L povidone Iodine used in conjunctival sag before cataract surgery.METHODS: Totally, 58 eyes of 45 cataract patients underwent phacoemulsification aspiration with intraocular lens implantation. The cojunctival sac secretions at three time points(admission, before and after disinfection with povidone iodinewere obtained and then cultured under the same condition and at the same time. The results were observed and identified.RESULTS: At the three points, the positive rate of bacterial culture was 79.3%, 41.9% and 3.4%, respectively. The positive rate significantly reduced gradually. CONCLUSION: The application effect of 50g/L povidone iodine in killing conjunctival sac bacteria is remarkable, which can avoid the postoperative endophthalmitis effectively.
... 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 ...
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 ...
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%) ...
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: ...
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.
Ainsworth, E.H.; Jose, J.; Yang, V.V.; Barker, M.E.
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
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 ...
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
Van C. Lansingh
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.
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..
Baumgartner, R W; Waespe, W
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.
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; ..... Asia to sub-Saharan Africa? Glob Public ...
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 ...
Hamada, Nobuyuki; Fujimichi, Yuki; Iwasaki, Toshiyasu; Nomura, Takaharu; Fujii, Noriko; Furuhashi, Masato; Kubo, Eri; Minamino, Tohru; Sato, Hitoshi
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)
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 ...
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