WorldWideScience

Sample records for bilateral congenital cataract

  1. Surgical interventions for bilateral congenital cataract.

    Science.gov (United States)

    Long, V; Chen, S

    2001-01-01

    Congenital cataracts are opacities of the lens in one or both eyes of children, causing a reduction in vision bad enough to require surgery. Cataract is the largest preventable cause of visual loss in childhood. Paediatric cataracts provide different challenges to those in adults. Intense inflammation, amblyopia and posterior capsule opacification can affect results of treatment. Two treatments commonly considered for congenital cataract are lensectomy and lens aspiration. The objective of this review is to assess the effects of surgical treatments for bilateral symmetrical congenital cataracts. Success is measured according to the vision attained and occurrence of adverse events. We searched the Cochrane Controlled Trials Register - CENTRAL (which includes the Cochrane Eyes and Vision Group specialised register), MEDLINE, EMBASE, the Science Citation Index and the reference list of the included study. We also contacted trial investigators and experts in the field for details of further studies. We included all prospective, randomised controlled trials that compared one type of cataract surgery to another or to no surgery, in children aged 15 years or younger with bilateral congenital cataracts. Two reviewers extracted data. No meta-analysis was performed. One trial met the inclusion criteria. This trial randomised 130 eyes of 65 children. Follow up of 56 children at three years found no difference in visual acuity between lensectomy and lens aspiration with primary capsulotomy. Secondary opacification developed at a higher rate in the lens aspiration group (66%) compared to the lensectomy group (2%). The two methods of surgery for bilateral congenital cataracts in this review have good visual results but the incidences of side effects differ. Further randomised trials are required to inform modern practice.

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

    Directory of Open Access Journals (Sweden)

    Devalina Goswami

    2015-01-01

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

  3. [Impact of timing of surgery on outcome in children with bilateral congenital cataract].

    Science.gov (United States)

    Kuhli-Hattenbach, C; Fronius, M; Kohnen, T

    2017-03-01

    The optimal time for surgical intervention in bilateral congenital cataract is still a matter of controversy. Herein, we evaluated clinical and functional results after bilateral congenital cataract surgery and performed subgroup analysis based on the age at the time of surgery. We retrospectively reviewed the records of 52 eyes of 26 children who underwent surgery for bilateral congenital cataract without intraocular lens implantation within the first 12 months of life; 16 eyes underwent phacoaspiration within the first 10 weeks of life (group A) and 26 eyes had cataract extraction at an age of >10 weeks (group B). We defined the primary outcome measure to be the prevalence of mild, moderate, and severe amblyopia in relationship to age-dependent visual acuity norms after a mean follow-up of 59.7 ± 43.2 months. Secondary outcome measures were interocular difference of visual acuity and the presence of strabismus, nystagmus, posterior capsule opacification, and aphakic glaucoma. The prevalence of amblyopia was not statistically different between the two age groups. Of all children, 62.5 % (A) and 61.1 % (B) developed age-dependent normal visual acuity or mild amblyopia. However, the younger cohort developed significantly less strabismus than the older cohort (P = 0.03). There was a strong relationship between cataract surgery within the first 14 weeks of life and the development of aphakic glaucoma. All children developing secondary cataract formation underwent cataract surgery in the first 20 weeks of life. Our results suggest that long-term prevalence of mild, moderate, and severe amblyopia is similar between the two cohorts of bilateral congenital cataract eyes based on the age ≤ or >10 weeks at the time of surgery. Because there is a strong relationship between postoperative complications and a young age at the time of cataract surgery, close postoperative follow-up is essential. Strabismus is less likely to develop in infants after

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

    Science.gov (United States)

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

    2007-07-01

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

  5. Congenital cataract

    Science.gov (United States)

    ... both eyes. Moderate to severe cataracts that affect vision, or a cataract that is in only 1 eye, will need to be treated with cataract removal surgery. In most (noncongenital) cataract surgeries, an artificial intraocular lens (IOL) is inserted into the eye. ...

  6. Visual outcomes of bilateral congenital and developmental cataracts in young children in south India and causes of poor outcome

    Directory of Open Access Journals (Sweden)

    Rohit C Khanna

    2013-01-01

    Full Text Available Context: Bilateral pediatric cataracts are important cause of visual impairment in children. Aim: To study the outcome of bilateral pediatric cataract surgery in young children. Setting and Design: Retrospective case series in a tertiary center. Materials and Methods: Records of pediatric cataracts operated between January 2001 and December 2003, with a minimum follow-up of 3 months, were reviewed retrospectively. Statistical Methods: Independent sample t-test, Fisher′s exact test, and logistic regression using SPSS (Statistical Package for Social Science, Chicago, USA version 12. Results: 215/257 (83.7% patients had a minimum follow-up of 3 months. The mean age of presentation to the hospital was 53 months (range: 0-168 months. Congenital cataract was present in 107 patients (58.2% and developmental cataract in 77 patients (41.8%. The mean age at surgery was 55.2 months (range: 1-168 months. Out of 430 eyes, 269 (62.6% had an intraocular lens implanted. The mean duration of follow-up was 13.1 months (range: 3-38 months. Pre-operatively, 102 patients (47.3% had visual acuity 6/18. The most common early post-operative complication was fibrinous uveitis in 57 eyes (13.3% and the most common delayed post-operative complication was posterior capsular opacification in 118 eyes (27.4%. The most important prognostic factor for poor outcome was congenital cataract (odds ratio [OR]: 26.3; 95% confidence interval [CI], 4.4-158.5 and total cataract (OR: 4.8; 95% CI, 1.3-17. Conclusion: Nearly half of the eyes had visual acuity >6/18. The outcome was poorer in congenital cataracts, especially those operated after >1 year of age.

  7. Cytomegalovirus Congenital Cataract

    Directory of Open Access Journals (Sweden)

    Ridha Wahyutomo

    2011-06-01

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

  8. Adrenomyeloneuropathy associated with congenital cataract

    International Nuclear Information System (INIS)

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

    1988-01-01

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

  9. Congenital cataract screening

    Directory of Open Access Journals (Sweden)

    Zhale Rajavi

    2016-01-01

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

  10. Immediate Sequential Bilateral Cataract Surgery

    DEFF Research Database (Denmark)

    Kessel, Line; Andresen, Jens; Erngaard, Ditte

    2015-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Soo Jung Lee

    2014-06-01

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

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

    Directory of Open Access Journals (Sweden)

    Marcia Caires Bestilleiro Lopes

    2009-08-01

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

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

    Science.gov (United States)

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

    2006-04-01

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

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

    Science.gov (United States)

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

    2016-07-01

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

  15. impairs gap junction function causing congenital cataract

    Indian Academy of Sciences (India)

    Navya

    2017-03-24

    Mar 24, 2017 ... Connexin 46 (Cx46) is important for gap junction channels formation which plays crucial role in the preservation of lens homeostasis and transparency. Previously, we have identified a missense mutation. (p.V44M) of Cx46 in a congenital cataract family. This study aims at dissecting the potential.

  16. Congenital cataracts and other abnormalities in a female with 46.X, del(X)(q26q28)mat: A new locus for X-linked congenital cataract?

    Energy Technology Data Exchange (ETDEWEB)

    Babul, R.; Chitayat, D.; Teshima, I. [Univ. of Toronto, Ontario (Canada)] [and others

    1994-09-01

    Three forms of X-linked congenital cataracts have been delineated: congenital cataract with posterior Y-sutural opacities in heterozygotes, congenital cataract and microcornea or microphthalmia and congenital cataract-dental syndrome (Nance-Horan syndrome). Of these, only the Nance-Horan syndrome has been mapped to Xp22.3-p21.1. However, Warburg has suggested that these different forms of X-linked congenital cataracts are due to deletions of varying sizes, placing them in the vicinity of the Nance-Horan syndrome region. We report on a female patient born to a 29-year-old primigravida woman who at birth was found to have hypotonia, dysmorphic facial features, hydrocephalus and dense white congenital bilateral cataracts. Other ophthalmological findings included bilateral nystagmus and shallow orbits. Chromosome analysis revealed 46,X,del(X)(q26q28)mat. The mother, however, is phenotypically normal. Brain CT scan on the female infant revealed communicating hydrocephalus and a muscle biopsy showed congenital muscle fiber disproportion. An EMG and NCV were normal. At 4 years of age, her height and weight were below -3SD and her OFC was +2SD. Molecular studies using DNA markers located in Xq26-qter have revealed that the proximal breakpoint in the patient and her mother is defined by the HPRT locus while the distal breakpoint is defined by the locus DXS1108. This indicates that the deletion is not terminal but rather interstitial, retaining sequences proximal to the telomeric region. Other molecular studies are in progress to determine the X-inactivation status of the deleted chromosome in our patient and her mother as a possible explanation for the variation in the phenotype. These clinical and molecular findings suggest that another locus for X-linked congenital cataract exists at Xq26-28.

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

    African Journals Online (AJOL)

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

  18. Bilateral cataracts associated with glucose-6-phosphate dehydrogenase deficiency.

    Science.gov (United States)

    Nair, V; Hasan, S U; Romanchuk, K; Al Awad, E; Mansoor, A; Yusuf, K

    2013-07-01

    Glucose-6-phosphate dehydrogenase (G6PD) has an essential role in the defense against cellular oxidative injury. In neonates, the most common manifestation of G6PD deficiency is jaundice and hemolysis due to factors causing oxidative stress. Less known are the ocular associations described with G6PD deficiency, including cataracts. Oxidative injury is involved in the pathogenesis of almost all forms of cataracts, causing the lens proteins to undergo modifications, denaturation and form insoluble aggregates resulting in cataracts. Although cataracts in adult males have been reported in several studies, there are few reports of cataracts in infants with G6PD deficiency. We describe a preterm male neonate with G6PD deficiency who developed bilateral cataracts following an episode of neonatal sepsis and severe hemolysis necessitating an exchange blood transfusion.

  19. Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans.

    Science.gov (United States)

    Berry, Vanita; Gregory-Evans, Cheryl; Emmett, Warren; Waseem, Naushin; Raby, Jacob; Prescott, DeQuincy; Moore, Anthony T; Bhattacharya, Shomi S

    2013-12-01

    Congenital cataracts are an important cause of bilateral visual impairment in infants. Through genome-wide linkage analysis in a four-generation family of Irish descent, the disease-associated gene causing autosomal-dominant congenital nuclear cataract was mapped to chromosome 4p16.1. The maximum logarithm of odds (LOD) score was 2.62 at a recombination fraction θ=0, obtained for marker D4S432 physically close to the Wolfram gene (WFS1). By sequencing the coding regions and intron-exon boundaries of WFS1, we identified a DNA substitution (c.1385A-to-G) in exon 8, causing a missense mutation at codon 462 (E462G) of the Wolframin protein. This is the first report of a mutation in this gene causing an isolated nuclear congenital cataract. These findings suggest that the membrane trafficking protein Wolframin may be important for supporting the developing lens.

  20. Anterior internal lenticonus accompanied by congenital nuclear cataract.

    Science.gov (United States)

    Liu, Zhe; Sun, Chuan-Bin; Yao, Ke

    2011-12-01

    Internal lenticonus is a very rare morphologic abnormality of crystalline lens which has been reported in only several cases in the literature. We herein reported the clinical characteristics and surgical findings of the anterior internal lenticonus accompanied by congenital nuclear cataract. Cataract extraction accompanied with intraocular lens implantation was uneventfully performed, and a good visual outcome was achieved in this case. Viral infection during embryonal and fetal period might account for the formation of the anterior internal lenticonus and congenital nuclear cataract in our case.

  1. Detection of TORCH pathogens in children with congenital cataracts.

    Science.gov (United States)

    Lu, Bin; Yang, Yabo

    2016-08-01

    The aim of the present study was to investigate the correlation between infection rates with TORCH pathogens including toxoplasma, rubella virus, cytomegalovirus, and herpes simplex virus (HSV) I and II and congenital cataracts. In total, the data from 69 children with congenital cataract treated at the Children's Hospital of the Zhejiang University School of Medicine between May 2006 and September 2013 were examined, including the complete serum test results for immunoglobulin (Ig)G and IgM that target TORCH pathogenic antibodies. These results were compared with the antibody levels of 5,914 children in a control group. Using SPSS 19.0 software, variance equation Levene tests, mean equation t tests, and completely randomized design of four tables χ 2 tests were applied. The HSV II IgG positivity rates significantly differed between the cataract and control groups. These results suggested that HSV may be one of the pathogenic viruses that leads to congenital cataracts.

  2. Congenital bilateral microphthalmos after gestational syphilis.

    Science.gov (United States)

    Navas, Rosa M; Parra, Reinaldo; Pacheco, Maivelys; Gomez, Jimena; Bermudez, Iris; Rodriguez-Morales, Alfonso J

    2006-10-01

    Congenital microphthalmos and anophthalmos are currently considered rare conditions. Many infectious agents have been previously associated with these pathologies, but rarely Treponema pallidum. We report a case of bilateral microphthalmos in which her mother presented gestational syphilis.

  3. Strabismus developing after unilateral and bilateral cataract surgery in children

    Science.gov (United States)

    David, R; Davelman, J; Mechoulam, H; Cohen, E; Karshai, I; Anteby, I

    2016-01-01

    Purpose To evaluate the prevalence and risk factors of strabismus in children undergoing surgery for unilateral or bilateral cataract with or without intraocular lens implantation. Methods Medical records of pediatric patients were evaluated from 2000 to 2011. Children undergoing surgery for unilateral or bilateral cataract with at least 1 year of follow-up were included. Children with ocular trauma, prematurity, or co-existing systemic disorders were excluded. The following data were evaluated: strabismus pre- and post-operation; age at surgery; post-operative aphakia or pseudophakia; and visual acuity. Results Ninety patients were included, 40% had unilateral and 60% had bilateral cataracts. Follow-up was on average 51 months (range: 12–130 months). Strabismus was found preoperatively in 34.4% children, and in 43.3% children at last follow-up. Strabismus developed in 46.2% of children who were orthotropic preoperatively, whereas 32.3% of children who had strabismus before surgery became orthotropic. Strabismus occurred after unilateral or bilateral cataract surgery in 63.9% and 29.6% children, respectively. At the last follow-up, strabismus was found in 46.7% of aphakic and 58.7% of pseudophakic children (P=0.283). Children who developed strabismus were generally operated at a younger age as compared with those without strabismus (mean of 25.9 vs 52.7 months, Pstrabismus. Conclusion Strabismus is a frequent complication after cataract surgery in children. Risk factors include unilateral cases and young age at surgery. No correlation was found between prevalence of strabismus and use of intraocular lens. Strabismus was more common in children with poor final visual acuity. PMID:27472210

  4. Congenital cataracts in two siblings with Wolfram syndrome.

    Science.gov (United States)

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

    2010-12-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1988-05-01

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

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

    DEFF Research Database (Denmark)

    Hansen, Lars; Yao, Wenliang; Eiberg, Hans

    2006-01-01

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

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

    Science.gov (United States)

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

    2016-07-29

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

  8. Acute bilateral cataracts in diabetes mellitus - a report on two cases ...

    African Journals Online (AJOL)

    Two patients, an adult female with newly diagnosed diabetes and an adolescent female with type 1 diabetes of 3 years' duration, presented with acute-onset bilateral cataracts. Normal vision was restored to both eyes after the cataracts had been extracted successfully. Journal of Endocrinology, Metabolism and Diabetes of ...

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

    Directory of Open Access Journals (Sweden)

    Thanaa H Mohamed

    2016-01-01

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

  10. Comparison between Subjective Sensations during First and Second Phacoemulsification Eye Surgeries in Patients with Bilateral Cataract

    Directory of Open Access Journals (Sweden)

    Ji-guo Yu

    2016-01-01

    Full Text Available Purpose. To evaluate and compare the subjective sensations reported by patients during first and second cataract extractions. Methods. Consecutive patients undergoing bilateral sequential cataract extraction using phacoemulsification were recruited. Following cataract surgery, patients completed questionnaires designed to evaluate subjective sensations, including anxiety, eye bulges, pain, and light sensitivity. Changes in painful sensations experienced by patients between the two surgeries were also recorded. Comparisons were also performed for each subjective sensation between different age groups (79 years. Results. A total of 127 patients were included in the final evaluation. Statistical comparison of the results showed that there were significant differences in perception of anxiety, eye bulges, and pain scores between the first and second cataract surgeries (P0.05 for all. Conclusions. Our research confirms the common observation that patients with bilateral cataracts often report more ocular discomfort during the second surgery. There are, therefore, additional factors that should be considered upon treating patients with bilateral cataracts, and the provision of preoperative counseling could play an important role in providing adequate patient care.

  11. Do older drivers with bilateral cataract self-regulate their driving while waiting for first eye cataract surgery?

    Science.gov (United States)

    Agramunt, Seraina; Meuleners, Lynn B; Fraser, Michelle L; Chow, Kyle C; Ng, Jonathon Q; Raja, Vignesh; Morlet, Nigel

    2017-01-01

    To analyze the association between visual impairment and driver self-regulation among a cohort of older drivers waiting for first eye cataract surgery. Ninety-six drivers with bilateral cataract aged 55+ years were assessed before first eye cataract surgery. Data collection consisted of a researcher-administered questionnaire, objective visual measures (visual acuity, contrast sensitivity and stereopsis), a visual attention test (the useful field of view test) and a cognitive test (the Mini-Mental State Examination). Driver self-regulation practices were collected using the Driving Habits Questionnaire and were also measured with an in-vehicle monitoring device. Characteristics of self-regulators and non-self-regulators were compared and a logistic regression model was used to examine the association between 3 objective visual measures and driver self-regulation status. After controlling for potential confounding factors, only binocular contrast sensitivity ( p =0.01), age ( p =0.03) and gender ( p =0.03) were significantly associated with driver self-regulation status. The odds of participants with better contrast sensitivity scores (better vision) self-regulating their driving in at least 1 driving situation decreased (odds ratio [OR]: 0.01, 95% CI: 0.00-0.28) while those of increasing age reported an increased odds of self-regulating their driving (OR: 1.08, 95% CI: 1.01-1.15). The odds of males self-regulating their driving was decreased compared with females (OR: 0.28, 95% CI: 0.09-0.86). Worse binocular contrast sensitivity scores, increasing age and being female were significantly associated with driver self-regulation. The study highlighted that while self-regulation was common among cataract patients, a proportion of those with poor vision did not self-regulate. Further research should determine how cataract patients could benefit from self-regulation strategies while waiting for cataract surgery.

  12. Bilateral population receptive fields in congenital hemihydranencephaly

    NARCIS (Netherlands)

    Fracasso, Alessio|info:eu-repo/dai/nl/372646905; Koenraads, Yvonne; Porro, Giorgio L; Dumoulin, Serge O|info:eu-repo/dai/nl/314406514

    PURPOSE: Congenital hemihydranencephaly (HH) is a very rare disorder characterised by prenatal near-complete unilateral loss of the cerebral cortex. We investigated a patient affected by congenital right HH whose visual field extended significantly into the both visual hemifields, suggesting a

  13. Bilateral population receptive fields in congenital hemihydranencephaly

    NARCIS (Netherlands)

    Fracasso, Alessio; Koenraads, Yvonne; Porro, Giorgio L.; Dumoulin, Serge O.

    2016-01-01

    Purpose: Congenital hemihydranencephaly (HH) is a very rare disorder characterised by prenatal near-complete unilateral loss of the cerebral cortex. We investigated a patient affected by congenital right HH whose visual field extended significantly into the both visual hemifields, suggesting a

  14. Cataracts

    Science.gov (United States)

    ... Specific Prevalence Rates for Cataract by Age, and Race/Ethnicity The risk of cataract increases with each ... Race/Ethnicity 2010 Prevalence Rates of Cataract by Race In 2010, white Americans age 40 and older ...

  15. Do older drivers with bilateral cataract self-regulate their driving while waiting for first eye cataract surgery?

    Directory of Open Access Journals (Sweden)

    Agramunt S

    2017-11-01

    Full Text Available Seraina Agramunt,1 Lynn B Meuleners,1 Michelle L Fraser,1 Kyle C Chow,1 Jonathon Q Ng,2,3 Vignesh Raja,4 Nigel Morlet2,3 1Curtin-Monash Accident Research Centre (C-MARC, Curtin University, Faculty of Health Sciences, Perth, Australia; 2Eye & Vision Epidemiology Research (EVER Group, Perth, Australia; 3School of Population and Global Health, The University of Western Australia, Perth, Australia; 4Sir Charles Gairdner Hospital, Perth, Australia Objectives: To analyze the association between visual impairment and driver self-regulation among a cohort of older drivers waiting for first eye cataract surgery.Methods: Ninety-six drivers with bilateral cataract aged 55+ years were assessed before first eye cataract surgery. Data collection consisted of a researcher-administered questionnaire, objective visual measures (visual acuity, contrast sensitivity and stereopsis, a visual attention test (the useful field of view test and a cognitive test (the Mini-Mental State Examination. Driver self-regulation practices were collected using the Driving Habits Questionnaire and were also measured with an in-vehicle monitoring device. Characteristics of self-regulators and non-self-regulators were compared and a logistic regression model was used to examine the association between 3 objective visual measures and driver self-regulation status.Results: After controlling for potential confounding factors, only binocular contrast sensitivity (p=0.01, age (p=0.03 and gender (p=0.03 were significantly associated with driver self-regulation status. The odds of participants with better contrast sensitivity scores (better vision self-regulating their driving in at least 1 driving situation decreased (odds ratio [OR]: 0.01, 95% CI: 0.00–0.28 while those of increasing age reported an increased odds of self-regulating their driving (OR: 1.08, 95% CI: 1.01–1.15. The odds of males self-regulating their driving was decreased compared with females (OR: 0.28, 95% CI: 0.09

  16. Congenital cataracts: de novo gene conversion event in CRYBB2.

    Science.gov (United States)

    Garnai, Sarah J; Huyghe, Jeroen R; Reed, David M; Scott, Kathleen M; Liebmann, Jeffrey M; Boehnke, Michael; Richards, Julia E; Ritch, Robert; Pawar, Hemant

    2014-01-01

    To identify the cause of congenital cataracts in a consanguineous family of Ashkenazi Jewish ancestry. We performed genome-wide linkage analysis and whole-exome sequencing for the initial discovery of variants, and we confirmed the variants using gene-specific primers and Sanger sequencing. We found significant evidence of linkage to chromosome 22, under an autosomal dominant inheritance model, with a maximum logarithm of the odds (LOD) score of 3.91 (16.918 to 25.641 Mb). Exome sequencing identified three nonsynonymous changes in the CRYBB2 exon 5 coding sequence that are consistent with the sequence of the corresponding region of the pseudogene CRYBB2P1. The identification of these changes was complicated by possible mismapping of some mutated CRYBB2 sequences to CRYBB2P1. Sequencing with gene-specific primers confirmed that the changes--rs2330991, c.433 C>T (p.R145W); rs2330992, c.440A>G (p.Q147R); and rs4049504, c.449C>T (p.T150M)--present in all ten affected family members are located in CRYBB2 and are not artifacts of cross-reaction with CRYBB2P1. We did not find these changes in six unaffected family members, including the unaffected grandfather who contributed the affected haplotype, nor did we find them in the 100 Ashkenazi Jewish controls. Our data are consistent with a de novo gene conversion event, transferring 270 base pairs at most from CRYBB2P1 to exon 5 of CRYBB2. This study highlights how linkage mapping can be complicated by de novo mutation events, as well as how sequence-analysis pipeline mapping of short reads from next-generation sequencing can be complicated by the existence of pseudogenes or other highly homologous sequences.

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

    Directory of Open Access Journals (Sweden)

    Uğur Keklikçi

    2005-01-01

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

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

    DEFF Research Database (Denmark)

    Nissen, Steffen; Schrøder, H D

    1979-01-01

    A family with "ant-egg" cataract in three generations is described. The cataract is congenital, probably of autosomal dominant inheritance. Light microscopy of the ant-eggs showed that they are made up of a peripheral zone of lens material and a large almost homogenous centre. Element analysis by X...

  19. Hyperferritinemia without iron overload in patients with bilateral cataracts: a case series

    Directory of Open Access Journals (Sweden)

    Mumford Andrew

    2011-09-01

    Full Text Available Abstract Introduction Hepatologists and internists often encounter patients with unexplained high serum ferritin concentration. After exclusion of hereditary hemochromatosis and hemosiderosis, rare disorders like hereditary hyperferritinemia cataract syndrome should be considered in the differential diagnosis. This autosomal dominant syndrome, that typically presents with juvenile bilateral cataracts, was first described in 1995 and has an increasing number of recognized molecular defects within a regulatory region of the L-ferritin gene (FTL. Case presentation Two patients (32 and 49-year-old Caucasian men from our ambulatory clinic were suspected as having this syndrome and a genetic analysis was performed. In both patients, sequencing of the FTL 5' region showed previously described mutations within the iron responsive element (FTL c.33 C > A and FTL c.32G > C. Conclusion Hereditary hyperferritinemia cataract syndrome should be considered in all patients with unexplained hyperferritinemia without signs of iron overload, particularly those with juvenile bilateral cataracts. Liver biopsy and phlebotomy should be avoided in this disorder.

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

    Directory of Open Access Journals (Sweden)

    Li Wang

    2016-01-01

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

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

    DEFF Research Database (Denmark)

    Hansen, Lars; Mikkelsen, Annemette; Nürnberg, Peter

    2009-01-01

    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 presente...

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

    NARCIS (Netherlands)

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

    2008-01-01

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

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

    NARCIS (Netherlands)

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

    2008-01-01

    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. A systematic analysis of

  4. First and second eye cataract surgery and driver self-regulation among older drivers with bilateral cataract: a prospective cohort study.

    Science.gov (United States)

    Agramunt, Seraina; Meuleners, Lynn B; Fraser, Michelle L; Chow, Kyle C; Ng, Jonathon Q; Raja, Vignesh

    2018-02-17

    Driving a car is the most common form of transport among the older population. Common medical conditions such as cataract, increase with age and impact on the ability to drive. To compensate for visual decline, some cataract patients may self-regulate their driving while waiting for cataract surgery. However, little is known about the self-regulation practices of older drivers throughout the cataract surgery process. The aim of this study is to assess the impact of first and second eye cataract surgery on driver self-regulation practices, and to determine which objective measures of vision are associated with driver self-regulation. Fifty-five older drivers with bilateral cataract aged 55+ years were assessed using the self-reported Driving Habits Questionnaire, the Mini-Mental State Examination and three objective visual measures in the month before cataract surgery, at least one to three months after first eye cataract surgery and at least one month after second eye cataract surgery. Participants' natural driving behaviour in four driving situations was also examined for one week using an in-vehicle monitoring device. Two separate Generalised Estimating Equation logistic models were undertaken to assess the impact of first and second eye cataract surgery on driver-self-regulation status and which changes in visual measures were associated with driver self-regulation status. The odds of being a self-regulator in at least one driving situation significantly decreased by 70% after first eye cataract surgery (OR: 0.3, 95% CI: 0.1-0.7) and by 90% after second eye surgery (OR: 0.1, 95% CI: 0.1-0.4), compared to before first eye surgery. Improvement in contrast sensitivity after cataract surgery was significantly associated with decreased odds of self-regulation (OR: 0.02, 95% CI: 0.01-0.4). The findings provide a strong rationale for providing timely first and second eye cataract surgery for older drivers with bilateral cataract, in order to improve their mobility and

  5. Bilateral congenital absence of the internal carotid artery

    Energy Technology Data Exchange (ETDEWEB)

    Rumboldt, Z.; Castillo, M.; Solander, S. [Dept. of Radiology, Univ. of North Carolina School of Medicine, Chapel Hill, NC (United States)

    2003-12-01

    Bilateral congenital absence of the internal carotid artery was incidentally found in an 11-year-old boy. Magnetic resonance imaging showed a normal-appearing brain that was entirely supplied by the vertebrobasilar system, and CT confirmed the absence of the bony carotid canals. Although most reported patients with agenesis of both internal carotid arteries presented with cerebrovascular lesions, this case demonstrates that this rare malformation may be asymptomatic. (orig.)

  6. Meeting the needs of children with congenital and developmental cataract in Africa

    Directory of Open Access Journals (Sweden)

    Paul Courtright

    2008-03-01

    Full Text Available In much of Africa, childhood cataract is becoming one of the leading causes of new cases of blindness reported per year.Although there is insufficient data on childhood cataract, both congenital and developmental, the backlog of children in need of surgery is estimated to be around 100 children per million population. The number of new cases of corneal blindness is estimated to be around 20 children per million population per year.The World Health Organization (WHO recommends that there be one paediatric ophthalmology tertiary centre per 10 million population4; however, few countries in Africa have reached this target. Even in settings with tertiary centres, few children are brought in for surgery; of those who are, most are brought in too late for surgeons to be able to achieve outcomes of the highest quality.5 This can be explained by the fact that both communities and health care providers are not sufficiently aware that children can develop cataract. The lack of programmes to identify and refer children with cataract compounds this problem. It also needs to be noted that, in most hospitals or other surgical facilities, boys outnumber girls; this is primarily due to cultural constraints and does not reflect any recognised biological risk factors associated with males.Virtually all children receiving surgery for congenital cataract in Africa will require long term follow-up for refractive error correction and low vision care. However, follow-up remains either patchy or non-existent.

  7. Immediate Sequential Bilateral Cataract Surgery: A Systematic Review and Meta-Analysis

    Directory of Open Access Journals (Sweden)

    Line Kessel

    2015-01-01

    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.

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

    Science.gov (United States)

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

    2009-07-10

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

  9. Cataratas senil bilateral psicológico pre y posoperatorio Bilateral senile cataract: a pre- and postoperavitve psychological study

    Directory of Open Access Journals (Sweden)

    Armando Rodríguez Romero

    2003-12-01

    Full Text Available Se realizó un estudio psicológico comparativo en 50 pacientes con catarata senil bilateral antes y después de la operación, en el período comprendido de enero a diciembre de1999 según las variables de edad, escolaridad y estado civil. Predominó el grupo etáreo de 70 a 79 años, nivel escolar primario y estado civil casado. Los síntomas psicopatológicos y la distribución según trastornos psiquiátricos disminuyeron después de restablecida su visión una vez operados de cataratas, en los de ansiedad y tristeza de 42 a7 pacientes respectivamente.A psychological comparative study was conducted among 50 patients with senile bilareral cataract before and after the operation from January to December, 1999, according to the following variables: age, educational level and marital status. The age group 70-79, the elementary educational level and the married patients predominated. The psychopathological symptoms and the distribution according to psychiatric disorders decreased among those with anxiety and sadness from 42 to 7 patients, respectively, once they were operated on of cataract and their vision was reestablished.

  10. Significance of axial length monitoring in children with congenital cataract and update of measurement methods.

    Science.gov (United States)

    Zhan, Jiao; Lin, Haotian; Zhang, Xinyu; Chen, Weirong; Liu, Yizhi

    2013-06-01

    Congenital cataract is the main cause of blindness in children, with significantly varying treatment effects. The development of axial length is an important factor that affects the prognosis of these children. However, when compared with the eyes of normal children, the mechanism of growth of the axial length is so complicated that the reported findings differ significantly in terms of the measuring apparatus, assessment methods, and statistical outcome, making the rule of axial length development still unclear. In this paper, we first review the process of axial length development in normal healthy children and compare different hypotheses about certain factors that could affect the development of axial length. The results of some current research about the characteristics of axial length development in congenital cataract children are then reviewed. Lastly, the advantages and disadvantages of current axial length measurements methods are compared and analyzed. The purpose of this review is to improve our understanding of the complexity and importance of axial length development and to suggest better use of axial length monitoring measurements in congenital cataract children for pediatric ophthalmologists, with the hope of offering assistance that will enhance long-term therapeutic effects for these children.

  11. Audiometric results of bilateral bone-anchored hearing aid application in patients with bilateral congenital aural atresia.

    Science.gov (United States)

    van der Pouw, K T; Snik, A F; Cremers, C W

    1998-04-01

    The effect of bilateral application of bone-anchored hearing aids (BAHAs) was examined in terms of directional hearing and speech recognition in quiet and in noise in four patients with bilateral congenital atresia who, out of pure necessity, had been using a unilateral bone-conduction hearing aid since early life. This study comprised a prospective clinical evaluation in a single subject design; four patients with bilateral congenital atresia originating from the Nijmegen BAHA series participated. Three patients had Treacher Collins syndrome. All four patients had conductive, most probably, symmetrical, hearing loss. Recently these patients had applied for a second BAHA and were subsequently fitted bilaterally. With two BAHAs, all four patients showed significant improvement in sound localization. Also, speech perception in quiet showed significant improvement with bilateral application, and a significant improvement was found in speech perception in noise in three patients. These results suggest that patients with congenital conductive, symmetrical hearing loss will benefit from bilateral BAHAs.

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

    Science.gov (United States)

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

    2012-01-01

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

  13. Giant Bilateral Adrenal Myelolipoma with Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    S. Al-Bahri

    2014-01-01

    Full Text Available Myelolipomas are rare and benign neoplasms, predominant of the adrenal glands, consisting of adipose and mature hematopoietic tissue, commonly discovered incidentally with increased use of radiologic imaging. Few cases of giant bilateral adrenal masses are reported, especially in the setting of congenital adrenal hyperplasia (CAH. We report the case of a 39-year-old male with a history of CAH secondary to 21-α hydroxylase deficiency on steroids since childhood, self-discontinued during adolescence, presenting with abdominal distension, fatigue, decreased libido, and easy bruising. Imaging revealed giant bilateral adrenal masses. He subsequently underwent bilateral adrenalectomy found to be myelolipomas measuring 30 × 25 × 20 cm on the left and weighing 4.1 kg and 25 × 20 × 13 cm on the right and weighing 2.7 kg. Adrenal myelolipomas are found to coexist with many other conditions such as Cushing’s syndrome, Addison’s disease, and CAH. We discuss the association with high adrenocorticotropic hormone (ACTH states and review the studies involving ACTH as proponent leading to myelolipomas. Massive growth of these tumors, as in our case, can produce compression and hemorrhagic symptoms. We believe it is possible that self-discontinuation of steroids, in the setting of CAH, may have resulted in the growth of his adrenal masses.

  14. CT findings of bilateral congenital absence of the long process of the incus

    Energy Technology Data Exchange (ETDEWEB)

    Watanabe, A. [Kasaoka Daiichi Hospital, Department of Neurosurgery, Okayama (Japan); Okayama (Japan); Miyashima, H. [Kasaoka Daiichi Hospital, Department of Pediatrics, Okayama (Japan); Kobashi, T. (Kasaoka Daiichi Hospital, Department of Radiology, Okayama, japan); Take, K. [Take Otolaryngolgy Hospital, Department of Otolaryngology, Okayama (Japan)

    2004-10-01

    Bilateral conductive deafness due to congenital absence of the long process of the incus (CALPI) is rare. The authors present the case of a patient with bilateral CALPI. To the best of our knowledge, this is the first reported case preoperatively diagnosed as bilateral CALPI by computed tomography. Multislice computed tomography is very useful for the diagnosis of minute abnormalities of the ossicles. (orig.)

  15. Isolated bilateral congenital lacrimal gland agenesis – Report of two cases

    Directory of Open Access Journals (Sweden)

    Manar Alwohaib

    2017-10-01

    Full Text Available Congenital lacrimal gland agenesis, also called congenital alacrima, is a rare cause of dry eye and is characterized by aplasia or hypoplasia of lacrimal glands. We present two 5-year old children with congenital lacrimal gland agenesis. The two cases had the final diagnosis of isolated bilateral congenital lacrimal gland agenesis and we document the clinical aspects, treatment and present a literature review related to this rare condition. Keywords: Alacrima, Lacrimal gland, Lacrimal gland agenesis, Punctal plugs

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

    DEFF Research Database (Denmark)

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

    2010-01-01

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

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

    Science.gov (United States)

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

    2008-02-01

    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. A systematic analysis of patients with unclassified leukoencephalopathies admitted to our institutions revealed 10 children with congenital cataract, slowly progressive neurologic impairment, and diffuse white matter abnormalities on neuroimaging. Psychomotor developmental delay was evident after the first year of life. Peripheral neuropathy was demonstrated by neurophysiologic studies in 9 children. The available neuroimaging studies were retrospectively reviewed. In all patients, neuroimaging revealed diffuse involvement of the supratentorial white matter associated with preservation of both cortical and deep gray matter structures. Supratentorial white matter hypomyelination was detected in all patients; 7 patients also had evidence of variably extensive areas of increased white matter water content. Deep cerebellar white matter hypomyelination was found in 6 patients. Older patients had evidence of white matter bulk loss and gliosis. Proton MR spectroscopy showed variable findings, depending on the stage of the disease. Sural nerve biopsy revealed hypomyelinated nerve fibers. Mutations in the DRCTNNB1A gene on chromosome 7p15.3, causing complete or severe deficiency of hyccin, were demonstrated in all patients. HCC is characterized by a combined pattern of primary myelin deficiency and secondary neurodegenerative changes. In the proper clinical setting, recognition of suggestive neuroimaging findings should prompt appropriate genetic investigations.

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

    Science.gov (United States)

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

    2016-01-01

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

  19. Relationship between preoperative axial length and myopic shift over 3 years after congenital cataract surgery with primary intraocular lens implantation at the National Institute of Ophthalmology of Peru, 2007-2011.

    Science.gov (United States)

    Valera Cornejo, Diego Alejandro; Flores Boza, Abel

    2018-01-01

    To determine the relationship between the preoperative axial length and the myopic shift over 3 years after congenital cataract surgery with primary intraocular lens implantation and other related factors. In this retrospective cohort study, the axial length was measured and assigned into 2 groups (>21.5 mm and ≤21.5 mm), visual axis obscuration, laterality of cataract, age of surgery and follow-up time were assessed and compared to the myopic shift. The mean myopic shift was 3.6 (standard deviation [SD]: 2.3) diopters (D) in all patients; 3.2 (3.3) and 3.9 (3.2) D for each group respectively ( p =0.359). In unilateral cataracts the mean myopic shift was 6.3 D and in bilateral cases was 3.0 D ( p =0.001). In bilateral cataracts, the shift was 2.6 D (SD: 2.0) and 3.4 D (SD: 1.8), respectively ( p =0.098). There was no relationship between the initial axial length and the myopic shift in all patients. Unilateral cataracts had a greater myopic shift over 3 years.

  20. Congenital lower lip pits and bilateral clefting of the upper lip.

    Science.gov (United States)

    Chindia, M L; Kimaro, S

    1994-05-01

    An apparently sporadic case of congenital lower lip pits in association with upper lip bilateral clefts is described in an 11-month-old boy. The presentation, mode of inheritance, aetiology and genetic significance are briefly reviewed.

  1. Bilateral congenital absence of the abductor pollicis brevis muscle: a case report.

    Science.gov (United States)

    Aydin, Ali; Topal, Murat; Tuncer, Kutsi; Kilic, Mesut

    2013-01-01

    Congenital absence of the abductor pollicis brevis is a very rare condition and is usually associated with other congenital anomalies. Here we report a case of bilateral congenital absence of the abductor pollicis brevis without any other abnormalities, which has not been previously reported. A 24-year-old Caucasian male patient presented to our clinic with flattening in the palmar region, pain and discomfort in writing, and weakness in both hands. USG and MRI revealed bilateral absence of the abductor pollicis brevis muscle. Bilateral congenital absence of the abductor pollicis brevis muscle requires no treatment due to satisfactory hand function, and results in cosmetic problems. Congenital absence of the abductor pollicis brevis muscle should be kept in mind in patients with flattening of the thenar eminences.

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

    Science.gov (United States)

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

    2018-04-01

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

  3. Bilateral dissociated vertical deviation in a case of congenital hereditary endothelial dystrophy

    Directory of Open Access Journals (Sweden)

    Bhola Rahul

    2006-01-01

    Full Text Available Dissociated vertical deviation (DVD is an intermittent anomaly of the non-fixing eye. Although association of DVD with sensory visual deprivation owing to congenital or acquired opacities of the ocular media has been reported, its association with congenital hereditary endothelial dystrophy (CHED has not been reported hitherto. We report a case having a bilateral asymmetric DVD, in a know case of bilateral CHED.

  4. Giant congenital melanocytic nevus with developmental dysplasia of bilateral hip: A rare association

    Directory of Open Access Journals (Sweden)

    Sutsungkokla Imchen

    2013-01-01

    Full Text Available Giant congenital melanocytic nevi are rare congenital disfiguring benign neoplasms with a risk of transformation to malignant melanoma. They often present with various extra-cutaneous features. Here, we describe a case of giant melanocytic nevus with developmental dysplasia of bilateral hip, a novel association.

  5. Congenital cytomegalovirus (CMV) infection as a cause of permanent bilateral hearing loss: a quantitative assessment.

    Science.gov (United States)

    Grosse, Scott D; Ross, Danielle S; Dollard, Sheila C

    2008-02-01

    Congenital cytomegalovirus (CMV) infection is a cause of sensorineural hearing loss (SNHL) in children, but the magnitude of its contribution is uncertain. Quantifying the impact of congenital CMV infection requires an evidence-based assessment using a standard case definition of hearing loss. To determine the frequency of bilateral moderate to profound SNHL in children with congenital CMV infection and to estimate the CMV-attributable fraction of bilateral moderate to profound SNHL. A systematic review of studies of children with congenital CMV infection ascertained in an unbiased manner through universal newborn screening for CMV using viral culture in urine or saliva specimens in combination with a review of the literature on congenital CMV infection and hearing loss, including articles of all types. Approximately, 14% of children with congenital CMV infection develop SNHL of some type, and 3-5% develop bilateral moderate to profound SNHL. Among all children with bilateral moderate to profound SNHL, we estimate that 15-20% of cases are attributable to congenital CMV infection. Congenital CMV infection is one of the most important causes of hearing loss in young children, second only to genetic mutations, and is potentially preventable.

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

    Directory of Open Access Journals (Sweden)

    Kalpana Kulkarni

    2009-01-01

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

  7. Catarata congénita: actualización Congenital cataract: updating

    Directory of Open Access Journals (Sweden)

    Lourdes R Hernández Santos

    2004-06-01

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

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

    International Nuclear Information System (INIS)

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

    2012-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Elisabetta Gazzerro

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

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

    LENUS (Irish Health Repository)

    Kirwan, Caitriona

    2013-07-22

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

  11. Delayed diagnosis of homocystinuria presenting as bilateral congenital lens subluxation

    OpenAIRE

    Jelić-Vuković Marija; Matić Suzana; Barać Josip; Novinščak Tomislav; Belovari Mirna; Barić Hrvoje

    2017-01-01

    Introduction. Homocystinuria is an autosomal recessively inherited defect leading to hyperhomocysteinemia and associated with ocular manifestations, mainly myopia and ectopia lentis. Case outline. A 26-year-old male with secondary glaucoma due to bilateral lens subluxation was admitted to the Department of vitreoretinal surgery. Horizontal nystagmus, bilateral lens subluxation, and bilateral amblyopia were first discovered at the age of three years. Preoperative laboratory workup revealed ele...

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

    Directory of Open Access Journals (Sweden)

    Shyamala G

    2008-01-01

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

  13. Morphometric measurements of the cranium in congenital bilateral blind males and females

    Directory of Open Access Journals (Sweden)

    Rengin Kosif

    2013-11-01

    Full Text Available Cranium dimensions differ according to racial, geopraphic, ethnic and nutritional factors. This study will shed light on the question “Is there a difference in the cranial distances measured between congenital bilateral blind people and healthy individuals?” Nine anthropometric measures were performed on the brain MRI midsagittally obtained from male and female congenital bilateral blinds. The anthropometric measures taken included the glabella-opisthocranion, nasion-dorsum sellae, dorsum sellae-opisthocranion, nasion-basion, nasion-opisthion, basion-opisthion, prosthion-basion, basion-vertex and the clival angle. In addition, the supratentorial and infratentorial areas were calculated. Glabella-opisthocranion, nasion-dorsum sellae, nasion-basion, prosthion-basion and clival angle were found to be smaller in the congenital bilateral blind females compared to the healthy group, but these results were not statistically significant. Whereas, other measures out of the basion-opisthion were found to be smaller in the congenital bilateral blind males than in the healthy subjects. Of these results, the distance between glabella-opisthocranion, nasion-dorsum sellae and nasion-basion was significantly smaller compared to the measurements taken from the healthy male group. The infratentorial area was significantly smaller in congenital blind male subjects and the supratentorial area was significantly larger in congenital blind female subjects. This study has revealed that the cranium dimensions of congenital blind people are to different from normal individuals. The most significant difference was in the distance of the nasion-dorsum sellae. The region anterior to the basion and dorsum sellae was prominently smaller. The infratentorial area was significantly smaller in congenital blind male subjects and the supratentorial area was significantly larger in congenital blind female subjects.

  14. A child presented with bilateral congenital constriction ring in lower extremity: a case report.

    Science.gov (United States)

    Jaiman, Richa; Gangopadhyay, Ajay N; Gupta, Dinesh K; Srivastava, Punit; Upadhyaya, Vijay D; Sharma, Shiv P; Kumar, Vijayendra

    2009-07-23

    The congenital constriction ring of lower extremity is very uncommon and rare condition. The actual incidence in general population is not known. In English literature, very few cases are reported time to time as congenital constriction band syndrome associated with musculoskeletal disorder like congenital talipes equino varus. The lesion can involve skin only or goes to deeper structure up to bone, which can lead to gangrene of foot or auto amputation. We are presenting a case of bilateral congenital constriction ring in lower limb who presented at age of 4 year without any other associated congenital anomaly, simply managed by Z-plasty, which improves quality of life after physiotherapy. Congenital constriction ring of lower limb is extremely rare condition in children. Early diagnosis and management is mandatory, either in single stage or by stage procedure, to prevent auto-amputation of limb and to improve quality of life on feet.

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

    Directory of Open Access Journals (Sweden)

    D. Wong

    2013-01-01

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

  16. Dominant ER Stress-InducingWFS1Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.

    Science.gov (United States)

    De Franco, Elisa; Flanagan, Sarah E; Yagi, Takuya; Abreu, Damien; Mahadevan, Jana; Johnson, Matthew B; Jones, Garan; Acosta, Fernanda; Mulaudzi, Mphele; Lek, Ngee; Oh, Vera; Petz, Oliver; Caswell, Richard; Ellard, Sian; Urano, Fumihiko; Hattersley, Andrew T

    2017-07-01

    Neonatal diabetes is frequently part of a complex syndrome with extrapancreatic features: 18 genes causing syndromic neonatal diabetes have been identified to date. There are still patients with neonatal diabetes who have novel genetic syndromes. We performed exome sequencing in a patient and his unrelated, unaffected parents to identify the genetic etiology of a syndrome characterized by neonatal diabetes, sensorineural deafness, and congenital cataracts. Further testing was performed in 311 patients with diabetes diagnosed before 1 year of age in whom all known genetic causes had been excluded. We identified 5 patients, including the initial case, with three heterozygous missense mutations in WFS1 (4/5 confirmed de novo). They had diabetes diagnosed before 12 months (2 before 6 months) (5/5), sensorineural deafness diagnosed soon after birth (5/5), congenital cataracts (4/5), and hypotonia (4/5). In vitro studies showed that these WFS1 mutations are functionally different from the known recessive Wolfram syndrome-causing mutations, as they tend to aggregate and induce robust endoplasmic reticulum stress. Our results establish specific dominant WFS1 mutations as a cause of a novel syndrome including neonatal/infancy-onset diabetes, congenital cataracts, and sensorineural deafness. This syndrome has a discrete pathophysiology and differs genetically and clinically from recessive Wolfram syndrome. © 2017 by the American Diabetes Association.

  17. Congenital cataract: prevalence and surgery age at Zhongshan Ophthalmic Center (ZOC.

    Directory of Open Access Journals (Sweden)

    Haotian Lin

    Full Text Available Congenital cataract (CC is the primary cause of treatable childhood blindness. Population-based assessments of prevalence and surgery age of CC, which are critical for improving management strategies, have been unavailable in China until now. We conducted a hospital-based, cross-sectional study of the hospital charts of CC patients younger than 18 years old from January 2005 to December 2010 at Zhongshan Ophthalmic Center (ZOC in Guangzhou, China. Residence, gender, age at surgery, hospitalization time, and the presence of other ocular abnormalities were extracted and statistically analyzed in different subgroups. The search identified 1314 patients diagnosed with CC from a total of 136154 hospitalizations, which accounted for 2.39% of all the cataract in-patients and 1.06% of the total in-patients over the six-year study period. Of the identified CC patients, 9.2% had ≥ 2 hospitalizations due to the necessity of additional surgeries, with a total ratio of boys to girls of 1.75 ∶ 1. Based on a subgroup analysis according to age, patients 2-6 years old constituted the highest proportion (29.22% of all hospitalized CC patients, and those 13-18 years old constituted the lowest proportion (13.47% of the total number. The average age at surgery was 27.62 ± 23.36 months, but CC patients ≤ 6 years old (especially ≤ 6 months old became increasingly prevalent throughout the 6-year study period. A total of 276 cases (20.93% of CC were associated with one or more other ocular abnormalities, the highest incidence rates were observed for exotropia (6.24%, nystagmus (6.16%, and refractive error (3.65%. In conclusion, CC patients accounted for 2.39% of all cataract in-patients in a review of 6 years of hospitalization charts from ZOC. The age at the time of surgery decreased over the 6-year study period, which probably reflects the continuing improvement of public awareness of children's eye care in China.

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

    Science.gov (United States)

    Chamova, Teodora; Zlatareva, Dora; Raycheva, Margarita; Bichev, Stoyan; Kalaydjieva, Luba; Tournev, Ivailo

    2015-01-01

    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.

  19. Homozygous Mutations in PXDN Cause Congenital Cataract, Corneal Opacity, and Developmental Glaucoma

    Science.gov (United States)

    Khan, Kamron; Rudkin, Adam; Parry, David A.; Burdon, Kathryn P.; McKibbin, Martin; Logan, Clare V.; Abdelhamed, Zakia I.A.; Muecke, James S.; Fernandez-Fuentes, Narcis; Laurie, Kate J.; Shires, Mike; Fogarty, Rhys; Carr, Ian M.; Poulter, James A.; Morgan, Joanne E.; Mohamed, Moin D.; Jafri, Hussain; Raashid, Yasmin; Meng, Ngy; Piseth, Horm; Toomes, Carmel; Casson, Robert J.; Taylor, Graham R.; Hammerton, Michael; Sheridan, Eamonn; Johnson, Colin A.; Inglehearn, Chris F.; Craig, Jamie E.; Ali, Manir

    2011-01-01

    Anterior segment dysgenesis describes a group of heterogeneous developmental disorders that affect the anterior chamber of the eye and are associated with an increased risk of glaucoma. Here, we report homozygous mutations in peroxidasin (PXDN) in two consanguineous Pakistani families with congenital cataract-microcornea with mild to moderate corneal opacity and in a consanguineous Cambodian family with developmental glaucoma and severe corneal opacification. These results highlight the diverse ocular phenotypes caused by PXDN mutations, which are likely due to differences in genetic background and environmental factors. Peroxidasin is an extracellular matrix-associated protein with peroxidase catalytic activity, and we confirmed localization of the protein to the cornea and lens epithelial layers. Our findings imply that peroxidasin is essential for normal development of the anterior chamber of the eye, where it may have a structural role in supporting cornea and lens architecture as well as an enzymatic role as an antioxidant enzyme in protecting the lens, trabecular meshwork, and cornea against oxidative damage. PMID:21907015

  20. Identification of a novel splice-site mutation in MIP in a Chinese congenital cataract family.

    Science.gov (United States)

    Jiang, Jin; Jin, Chongfei; Wang, Wei; Tang, Xiajing; Shentu, Xingchao; Wu, Renyi; Wang, Yao; Xia, Kun; Yao, Ke

    2009-01-01

    To map the locus and identify the gene causing autosomal dominant congenital cataract (ADCC) with "snail-like" phenotype in a large Chinese family. Clinical and ophthalmologic examinations were conducted on family members and documented by slit lamp photography. Linkage analysis was performed with an initial 41 microsatellite markers, then 3 additional markers flanking the major intrinsic protein (MIP) gene. Mutations were screened by DNA sequencing and verified by restriction fragment length polymorphism (RFLP) analysis. Significant two-point LOD scores were obtained at 5 markers flanking MIP with the highest 3.08 (theta=0.00) at marker D12S1632. Mutation screening of MIP identified a heterozygous G>A transition at the acceptor splice site of intron 3 (IVS3 -1 G>A), abolishing a BstSF I restriction site in one allele of all the affected individuals. We identified a novel splice-site mutation (IVS3 -1 G>A in MIP) in a Chinese ADCC family. To our knowledge, this is the first report on an acceptor splice-site mutation in human genes associated with ADCC.

  1. Delayed diagnosis of homocystinuria presenting as bilateral congenital lens subluxation

    Directory of Open Access Journals (Sweden)

    Jelić-Vuković Marija

    2017-01-01

    Full Text Available Introduction. Homocystinuria is an autosomal recessively inherited defect leading to hyperhomocysteinemia and associated with ocular manifestations, mainly myopia and ectopia lentis. Case outline. A 26-year-old male with secondary glaucoma due to bilateral lens subluxation was admitted to the Department of vitreoretinal surgery. Horizontal nystagmus, bilateral lens subluxation, and bilateral amblyopia were first discovered at the age of three years. Preoperative laboratory workup revealed elevated levels of homocysteine. Bilateral pars plana lensectomy and vitrectomy followed by a sulcus fixation of the intraocular lens (ALCON MA60 Acrysof IOL were performed. The patient was prescribed folic acid, methionine, and pyridoxine, and was urged to maintain a methionine-low diet. After a bilateral lensectomy and sulcus fixation of the intraocular lens and a methionine restriction therapy combined with vitamin B6, B9, and B12 supplementation, his condition improved greatly. Conclusion. In this report of a rare case we emphasize the importance of examining differential diagnoses of lens subluxation, since early intervention can prevent serious complications.

  2. Childhood Cataract: Home to Hospital

    Directory of Open Access Journals (Sweden)

    Mohammad A Muhit MBBS MSc(Ophth MSc(CEH

    2004-01-01

    Full Text Available 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.

  3. Childhood cataract: home to hospital.

    OpenAIRE

    Muhit, MA

    2004-01-01

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

  4. Bilateral s-shaped kidneys: A rare congenital malformation

    Directory of Open Access Journals (Sweden)

    Nikhil Ranjan

    2015-01-01

    Full Text Available A bilateral S-shaped kidney is a rare anomaly in which both the kidneys are in their normal position, in contrast to the commonly reported S-shaped fusion anomaly, in which the contralateral kidney crosses the midline to fuse with opposite kidney leaving the ipsilateral renal fossa empty. Here we present the diagnosis and management of a case of bilateral S-shaped renal anomaly with associated left pelviureteric junction obstruction and nonfunctioning kidney and right renal stones. Left kidney was managed by open nephrectomy and right kidney by PNL.

  5. Familial congenital bilateral agenesis of the acromion : a radiologically illustrated case report

    NARCIS (Netherlands)

    Hermans, JJ; Mooyaart, EL; Hendriks, JGE; Diercks, RL

    1999-01-01

    Familial congenital bilateral acromion absence was found in four members of one family. Only one of them presented with gradually increasing pain in his left shoulder, resembling a shoulder impingement syndrome. The other members did not have any symptoms. This is the first report of familial

  6. Early onset bilateral juvenile myasthenia gravis masquerading as simple congenital ptosis

    Directory of Open Access Journals (Sweden)

    Alam, Md. Shahid

    2017-03-01

    Full Text Available Myasthenia gravis is an autoimmune disorder affecting the neuromuscular junction. Ocular myasthenia gravis presents as ptosis with extraocular motility restriction and is prone to be misdiagnosed as third nerve palsy or congenital or aponeurotic ptosis. Juvenile ocular myasthenia gravis in very young children is difficult to diagnose and can be easily labeled as a case of congenital ptosis, the more so when the condition is bilateral. We present a case of a two-year-old child who presented with bilateral ptosis and was diagnosed as a case of simple congenital ptosis elsewhere with the advice to undergo tarsofrontalis sling surgery. The child was diagnosed with juvenile myasthenia gravis on thorough history, examination, and systemic evaluation and was started on anti-myasthenic treatment.

  7. Delayed Case of Congenital Bilateral Trigger Thumb: A Case Report and Review of Literature

    Directory of Open Access Journals (Sweden)

    Y Bhanu Rekha

    2014-01-01

    Full Text Available Abstract Introduction: Congenital trigger thumb is an uncommon anamoly of children. Its management is controversial, ranging from observation to extensive surgical release. We report a case of delayed presentation of bilateral trigger thumb along with a brief review of past literature. Case Report: A six year old girl presented with fixed flexion deformity of interphalangeal joints of both thumbs and Notta’s nodules. It is diagnosed as trigger thumb and release of bilateral A1pulleys is done. But we found another constricting annular pulley just distal to A1. Only after splitting the distal pulley, we could get complete extension of interphalangeal joints. At two years follow-up, the child is free of complications. Conclusion: Splitting of A1 pulley alone may not be sufficient in few cases of trigger thumb. Keywords: Congenital trigger thumb, bilateral trigger thumb and variable pulley of thumb.

  8. Bilateral congenital deficiency of tibia: a case report.

    Science.gov (United States)

    Sharma, Vijai; Yadav, Ganesh; Gupta, Anil Kumar; Kumar, Dileep

    2014-01-01

    Tibial hemimelia/amelia is a rare congenital anomaly characterized by deficiency of the tibia with relatively intact fibula. They can be identified as an isolated disorder or as part of malformation syndromes. This presentation expands the spectrum of tibial hemimelia characterizing its great clinical and radiological variability. A five year old female child, born to unaffected and non-consanguineous parents, presented with deformity and shortening of both legs. There was no other structural anomaly except in both lower limbs. Radiological imaging showed absence of the tibia, angulation of fibula and tarsal coalition of right side. Femur was seen to be normal in both lower limbs while patella, tibia and talus were absent on left side along with 1st ray deficiency. Severe varus deformity was seen in both feet. The parents were not willing for corrective surgery, therefore extension prosthesis was devised. We report a case of tibial hemimelia as well as to suggest methods to manage and rehabilitate such patients. A congenital malformations surveillance and record system needs to be developed to identify the demographic parameters, etiology, risk factors and associations of all types of limb deficiencies. Need is felt of a classification system which includes broader spectrum of limb malformations.

  9. Bilateral cataract formation via acute spontaneous fracture of the lens following treatment of hyperglycemic hyperosmolar syndrome

    Directory of Open Access Journals (Sweden)

    Yevgeniy V. Sychev

    2017-09-01

    Conclusions and importance: Acute transient cataracts that develop during correction of hyperglycemic hyperosmolar syndrome are thought to result from osmotic lens swelling. In this case report, internal fracture of the lens was produced by mechanical forces generated in the process of lens swelling occurring as a consequence of initial hyperglycemia and its subsequent correction. This case represents a rare ocular complication of hyperglycemia correction, and provides new evidence that mechanical forces can be part of diabetic cataractogenesis.

  10. A missense mutation in CRYBB2 leads to progressive congenital membranous cataract by impacting the solubility and function of βB2-crystallin.

    Directory of Open Access Journals (Sweden)

    Weirong Chen

    Full Text Available Congenital cataract is a major cause of visual impairment and childhood blindness. The solubility and stability of crystallin proteins play critical roles in maintaining the optical transparency of the lens during the life span. Previous studies have shown that approximately 8.3%~25% of congenital cataracts are inherited, and mutations in crystallins are the most common. In this study, we attempted to identify the genetic defect in a four-generation family affected with congenital cataracts. The congenital cataract phenotype of this four-generation family was identified as membranous cataract by slit-lamp photography. Mutation screening of the candidate genes detected a heterozygous c.465G → C change in the exon6 of the βB2-crystallin gene (CRYBB2 in all family members affected with cataracts, resulting in the substitution of a highly conserved Tryptophan to Cystine (p.W151C. The mutation was confirmed by restriction fragment length polymorphism (RFLP analysis and found that the transition resulted in the absence of a BslI restriction site in the affected members of the pedigree. The outcome of PolyPhen-2 and SIFT analysis predicted that this W151C mutation would probably damage to the structure and function of βB2-crystallin. Wild type (wt and W151C mutant βB2-crystallin were expressed in human lens epithelial cells (HLECs, and the fluorescence results showed that Wt-βB2-crystallin was evenly distributed throughout the cells, whereas approximately 34.7% of cells transfected with the W151C mutant βB2-crystallin formed intracellular aggregates. Taken together, these data suggest that the missense mutation in CRYBB2 gene leads to progressive congenital membranous cataract by impacting the solubility and function of βB2-crystallin.

  11. Congenital bilateral agenesis of the tibialis anterior muscles: a rare case report.

    Science.gov (United States)

    Htwe, Ohnmar; Swarhib, M; Pei, Tan Sook; Naicker, Amaramalar Selvi; Das, S

    2012-01-01

    Congenital bilateral agenesis of the tibialis anterior muscles is a rare condition. We present a case of congenital absence of bilateral tibialis anterior muscles in a 6-year-old boy who presented with an abnormal gait. He was previously diagnosed to have bilateral congenital talipes equinovarus (CTEV) deformity for which he underwent corrective surgery two times. However, he still had a residual foot problem and claimed to have difficulty in walking. On examination, he walked with a high stepping gait and muscle power of both lower limbs was 5/5 on the medical research council scale (MRCS) except for both ankle dorsiflexors and long toe extensors. The sensation was intact. Magnetic Resonance Imaging (MRI) study of both legs revealed that tibialis anterior muscles were not visualized on both sides suggestive of agenesis of the tibialis anterior muscles. The rest of the muscles appeared mildly atrophied. The electrophysiological study showed normal motor and sensory conduction in both upper and lower limbs. Electromyographic (EMG) study of the vastus medialis was within normal limit and no response could be elicited for EMG of tibialis anterior muscles suggesting possible absence of tibialis anterior muscles, bilaterally. The patient underwent split tibialis posterior tendon transfer to achieve a balanced and functional foot and was well on discharge. The present case describes the normal anatomy and embryology of tibialis anterior muscles as well as possible causes of its agenesis along with its clinical implications.

  12. Congenital absence of the lumbar facet joint associated with bilateral spondylolysis of the fifth lumbar vertebra.

    Science.gov (United States)

    Wang, Zhuo; Sakakibara, Toshihiko; Kasai, Yuichi

    2013-01-01

    A 14-year-old boy presented with a rare case of congenital absence of lumbar facet joint manifesting as low back pain. Physical examination showed no neurological or hematologic abnormalities. Radiography revealed absence of a facet joint on the right side of L4-5. Computed tomography and three-dimensional computed tomography revealed absence of the facet joint on the right side of L4-5 and spondylolysis on both sides of L5. Pain subsided after conservative treatment. This is an extremely rare case of congenital absence of lumbar facet joint associated with bilateral spondylolysis.

  13. Ultrasound and MR images of prenatally diagnosed bilateral congenital diaphragmatic hernia, a rare variation of CDH.

    Science.gov (United States)

    Hiasa, Kana Ishibashi; Fujita, Yasuyuki; Fukushima, Kotaro; Nagata, Kouji; Taguchi, Tomoaki; Wake, Norio

    2012-01-01

    The patient referred to our hospital at 29 weeks. The detailed ultrasound study demonstrated the stomach behind the heart, the slight deviation of the heart, and the vascular connection between the right chest organ and inferior vena cava. Bilateral congenital diaphragmatic hernia was suggested and confirmed by magnetic resonance imaging. A baby was delivered at 37 weeks and immediately placed on high-frequency oscillation ventilation. Although a surgical correction of the bilateral hernia under extracorporeal membrane oxygenation was completed, he expired at 14 h of age. Copyright © 2012 Elsevier Inc. All rights reserved.

  14. Bilateral Congenital Absence of the Stapes Superstructure in Two Siblings

    Directory of Open Access Journals (Sweden)

    Jose Ignacio Undabeitia

    2014-01-01

    Full Text Available Middle ear ossicle malformations are an uncommon event. Among them, the congenital absence of the stapes is a very rare condition that is seldom described in the literature. We report the cases of two women, aged 19 and 22 , who presented with a long history of conductive deafness. An exploratory tympanotomy was performed and the absence of the stapes superstructure and an abnormal position of the facial nerve could be observed. A bone anchored hearing aid (BAHA was implanted in both patients with good results. It is believed that stapes agenesis is related to an abnormal development of the facial nerve, which by the 5th to 6th week of gestation would interpose between the otic capsule and the stapes blastema, preventing these structures from contacting. A long history of nonprogressive hearing loss from birth or early childhood is the key to reach a diagnosis. Several treatment options have been described. The authors opted for a hearing aid due to the high risk of facial nerve lesion, with good functional results.

  15. Clinical trial comparing autogenous fascia lata sling and Gore-Tex suspension in bilateral congenital ptosis.

    Science.gov (United States)

    Elsamkary, Mahmoud Ahmed; Roshdy, Maged Maher Salib

    2016-01-01

    To study the effect of autogenous fascia lata sling (AFLS) versus Gore-Tex suspension (GTS) regarding the functional and aesthetic outcomes in patients with bilateral congenital ptosis. A prospective comparative randomized single-center study enrolled 110 patients with bilateral congenital ptosis. One group (n=55) underwent AFLS and the second group (n=55) underwent GTS. Exclusion criteria were good levator function, absent Bell's phenomenon, and abnormal ocular motility. Follow-up period was 2 years. Functional outcome was measured from digital photos by analysis of upper eyelid margin position relative to the superior limbus and classified as very good (5 mm), and recurrent. Aesthetic outcome was assessed in terms of lid contour, symmetry of eyelid height, and lid crease presence. Complications were also reported. Failure rate (recurrence and complications) was less in AFLS (P=0.035). Symmetrical lid height and good contour were more frequently attained by AFLS (P=0.007 and 0.047, respectively). However, the frequency of very good, good, poor, recurrence, lagopthalmos, ectropion, infection, and formed lid crease individually showed no statistically significant difference (P=0.252, 0.482, 1, 0.489, 0.438, 1, 0.618, and 0.506, respectively). AFLS is a better choice in surgery for patients with bilateral congenital ptosis because it has fewer complications and a lesser recurrence rate than GTS.

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

    Directory of Open Access Journals (Sweden)

    Merixy Charón Milián

    2012-12-01

    out in "William Soler" pediatric hospital from January 2004 to June 2006. The following variables were analyzed; age, sex, origin, way of detection, symptoms, risk factors, location, likely etiology and laterality of cataract, associated eye disturbances and post-surgical vision. The results were given as means and percentages. Results: the average age was 4.9 years, but for those children under one year old, it was 6.6 months. Males (60.25 %, patients from La Habana province (25.4 %, medical referral as the way of detection (71.43 %, leukocoria (30.15 %, multiple congenital anomalies (34.92 %, central location of cataract (44.44 %, the idiopathic cause (41.27 % and bilateral cataract (66.67 % were all predominant. Another kind of associated ocular anomaly was found in 34.92 % of patients whereas 59.04 % of operated eyes reached 0.7-1.0 vision. Conclusions: in the analyzed series, under 2 months children, males, patients from La Habana province, medical referral, leukocoria and associated multiple congenital anomalies, the central location of cataract were prevalent; the possible etiology of bilateral cataract was hereditary origin whereas the cause of unilateral cataract was unknown. The post-surgical visual improvement was greater as the patient's age was younger at the time of surgery.

  17. Unilateral Congenital Knee and Hip Dislocation with Bilateral Clubfoot – A rare Packaging disorder

    Directory of Open Access Journals (Sweden)

    Mukesh Tiwari

    2013-04-01

    Full Text Available ntroduction: Reduced intrauterine space gives rise to ‘packaging disorder’ which may involve joint dislocations or contractures. We present an unique case where mutiple joints were dislocated involving left congenital knee dislocation (CDK, bilateral congenital hip dislocation (CDH and congenital talipes equino varus (CTEVdeformities. Case Report: A preterm baby boy born to mother with diagnosed oligohydramios presented with left CDK bilateral DDH and CTEV. The knee dislocation was treated first with gradual streaching and weekly above knee cast. At 7th week good flexion was achieved at both knees and abduction splint for DDH (using double diaper with ponseti cast for CTEV was done. At one year follow up all joints were reduced and maintained well with baby able to stand with support. Conclusion: Packaging disorders may present with multiple dislocations and deformities. Early intervention with serial casting and manipulation minimises disability and prevents ambulatory problems. In our case there was a good response to manipulation and serial casting. This differs from cases with inherent pathology like arthrogryposis where response to treatment is not so good. Keywords: Congenital genu recurvatum, Develpmental dysplasia hip, CTEV, Clubfoot, serial manipulation, packaging disorders

  18. Neglected surgically intervened bilateral congenital dislocation of knee in an adolescent

    Directory of Open Access Journals (Sweden)

    Jaswant Kumar

    2014-01-01

    Full Text Available Neglected bilateral congenital dislocation of knee is unusual. A 12 year old boy presented with inability to walk due to buckling of the knee. The symptoms were present since the child learnt walking. He preferred not to walk. Bilateral supracondylar femoral osteotomy was done at the age of 6 years. Patient had a fixed flexion deformity of both knees, 30° in the right (range of flexion from 30° to 45° and 45° fixed flexion deformity in left knee respectively (range of flexion from 45° to 65° when presented to us. The radiological examination revealed bilateral congenital dislocation of knee (CDK. No syndromic association was observed. He was planned for staged treatment. In stage I, the knee joints were distracted by Ilizarov ring fixators and this was followed by open reduction of both the knee joints in stage II. A bilateral supracondylar extension osteotomy was done 18 months after the previous surgery (stage III. The final followup visit at 4 years the patient presented with range of motion 5-100° and 5-80° on the right and left knee respectively with good functional outcome. The case is reported in view of lack of treatment guidelines for long standing neglected CDK in an adolescent child.

  19. Prosthetic Reconstruction for a Child with a Congenital Bilateral Ear Deformity: Case Report

    Directory of Open Access Journals (Sweden)

    Mohammad Ali Mardani

    2015-09-01

    Full Text Available Objectives: Microtia is the most commonly seen congenital ear defect, and involves an auricular deformity either unilaterally or bilaterally. The aim of this study was to fabricate silicone prostheses for a child with bilateral microtia using an innovative technique. Methods: This method involved the construction of bilateral ear prostheses using clips, which were located within the layers of the silicone superstructure.  Results: Surgical reconstruction was not indicated due to the patient’s age; so prosthetic reconstruction was advised in this case. Discussion: Two prosthetic ears were manufactured, with one being attached using an adhesive method and the other by a self suspension method. The child and his parents were very satisfied by the cosmetic and aesthetic appearance of the prostheses fitted. This technique has been proven to be suitable for pediatric patients with microtia.

  20. Unilateral Congenital Knee and Hip Dislocation with Bilateral Clubfoot - A rare Packaging disorder.

    Science.gov (United States)

    Tiwari, Mukesh; Sharma, Nishith

    2013-01-01

    Reduced intrauterine space gives rise to 'packaging disorder' which may involve joint dislocations or contractures. We present an unique case where mutiple joints were dislocated involving left congenital knee dislocation (CDK), bilateral congenital hip dislocation (CDH) and congenital talipes equino varus (CTEV)deformities. A preterm baby boy born to mother with diagnosed oligohydramios presented with left CDK bilateral DDH and CTEV. The knee dislocation was treated first with gradual streaching and weekly above knee cast. At 7th week good flexion was achieved at both knees and abduction splint for DDH (using double diaper) with ponseti cast for CTEV was done. At one year follow up all joints were reduced and maintained well with baby able to stand with support. Packaging disorders may present with multiple dislocations and deformities. Early intervention with serial casting and manipulation minimises disability and prevents ambulatory problems. In our case there was a good response to manipulation and serial casting. This differs from cases with inherent pathology like arthrogryposis where response to treatment is not so good.

  1. Bilateral implant-retained auricular prosthesis for a patient with congenitally missing ears. A clinical report.

    Science.gov (United States)

    Kumar, Preeti Satheesh; Satheesh Kumar, K S; Savadi, Ravindra C

    2012-06-01

    Microtia is a major congenital anomaly of the external ear. It includes a spectrum of deformities from a grossly normal but small ear to the absence of the entire external ear. These deformities account for three in every 10,000 births, with bilaterally missing ears seen in fewer than 10% of all cases. Congenital abnormalities of the ear are unlikely to result in the complete absence of the ears, but the patient presented in this article had bilateral congenitally missing ears. There was loss of anatomic landmarks and alteration of normal bony architecture. Minimal tissue was available for retention; therefore, conventional techniques could not be used for achieving retention. A two-implant-supported auricular prosthesis was planned, but the patient was found to have deficient bone in the implant site. Hence the implants were placed posterior to these sites, and the superstructure was modified to accommodate for this change in position of the implant to ensure the esthetic positioning of the prosthesis. © 2012 by the American College of Prosthodontists.

  2. Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype.

    Science.gov (United States)

    Liang, Wen-Chen; Zhu, Wenhua; Mitsuhashi, Satomi; Noguchi, Satoru; Sacher, Michael; Ogawa, Megumu; Shih, Hsiang-Hung; Jong, Yuh-Jyh; Nishino, Ichizo

    2015-01-01

    Transport protein particle (TRAPP) is a multiprotein complex involved in endoplasmic reticulum-to-Golgi trafficking. Zebrafish with a mutation in the TRAPPC11 orthologue showed hepatomegaly with steatosis and defects in visual system development. In humans, TRAPPC11 mutations have been reported in only three families showing limb-girdle muscular dystrophy (LGMD) or myopathy with movement disorders and intellectual disability. We screened muscular dystrophy genes using next-generation sequencing and performed associated molecular and biochemical analyses in a patient with fatty liver and cataract in addition to infantile-onset muscle weakness. We identified the first Asian patient with TRAPPC11 mutations. Muscle pathology demonstrated typical dystrophic changes and liver biopsy revealed steatosis. The patient carried compound heterozygous mutations of a previously reported missense and a novel splice-site mutation. The splice-site change produced two aberrantly-spliced transcripts that were both predicted to result in translational frameshift and truncated proteins. Full-length TRAPPC11 protein was undetectable on immunoblotting. This report widens the phenotype of TRAPPC11-opathy as the patient showed the following: (1) congenital muscular dystrophy phenotype rather than LGMD; (2) steatosis and infantile-onset cataract, both not observed in previously reported patients; but (3) no ataxia or abnormal movement, clearly indicating that TRAPPC11 plays a physiological role in multiple tissues in human.

  3. [A heterozygous transversion of connexin 50 in a family with congenital nuclear cataract in the northeast of China].

    Science.gov (United States)

    Zheng, Jian-qiu; Ma, Zhi-wei; Sun, Hui-min

    2005-02-01

    To identify the genetic defect causing autosomal dominant congenital cataract (ADCC) in a five-generation family in the northeast of China. Linkage analysis was carried out with polymorphic microsatellites on the Human MapPairs marker set, special known loci. Mutation analysis of the candidate gene in the critical region was performed to detect the potential mutation. The maximum Lod score (2.44 at recombination fraction theta=0) was obtained for markers D1S498,D1S305, and D1S2844. The cataract locus in this family constellation was mapped to 1q21.1 and 21.44 cM interval between D1S2344 and D1S2844, which were known to flank the gene coding Connexin 50 (Cx50) or gap junction protein alpha-8 (GJA8). Sequencing of the coding region of GJA8 gene showed a heterozygous transversion T>G in exon 2, which resulted in the substitution of glycine for valine at amino acid 64, and this position was in the first connexin signature region that characterized this protein. This is the first report on a mutation in the first connexin signature region of the GJA8 and a different mutation within Cx50 revealed in this family, which might account for the phenotypic differences observed. Furthermore, this study confirmed that GJA8 plays a vital role in the maintenance of human lens transparency.

  4. Chiropractic management of patients with bilateral congenital hip dislocation with chronic low back and leg pain.

    Science.gov (United States)

    Diez, Francisco

    2004-05-01

    To discuss conservative methods for treating patients with chronic low back and leg pain associated with the biomechanical and postural alterations related to bilateral congenital hip dislocation. This report describes the cases of 2 adult female subjects with bilateral congenital hip dislocation without acetabula formation who suffered from chronic low back and leg pain managed conservatively by chiropractic methods. The first subject is a 45-year-old woman with a 9-month history of right buttock pain and radiating right leg pain and paresthesia down to the first 2 toes, with a diagnosis of a herniated L4 intervertebral disk. The second subject is a 53-year-old woman who complained of chronic intermittent low back pain and constant unremitting pain on her right leg for the last 3 years. Chiropractic manipulation utilizing Logan Basic apex and double notch contacts, as well as sacroiliac manipulation on a drop table with a sacrum contact and with a posterior to anterior and superior to inferior (PA-SI) rocking thrust, together with a spinal stabilization exercise program, were used on these 2 patients. Both patients had significant clinical improvement, with reduction on the Visual Analogue Scale (VAS) of 67% and 84%, Oswestry Disability Index improvement of 73% and 81%, and an improvement on the Harris hip score of 71% and 44%, respectively. A conservative management approach, including specific chiropractic manipulation and a spinal stabilization exercise program, can help manage the treatment of adult patients with chronic low back and leg pain related to bilateral congenital dislocation of the hips.

  5. Clinical trial comparing autogenous fascia lata sling and Gore-Tex suspension in bilateral congenital ptosis

    Directory of Open Access Journals (Sweden)

    Elsamkary MA

    2016-03-01

    Full Text Available Mahmoud Ahmed Elsamkary,1 Maged Maher Salib Roshdy1,2 1Ophthalmology Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt; 2Pediatric Ophthalmology Department, Al Watany Eye Hospital, Cairo, Egypt Purpose: To study the effect of autogenous fascia lata sling (AFLS versus Gore-Tex suspension (GTS regarding the functional and aesthetic outcomes in patients with bilateral congenital ptosis. Patients and methods: A prospective comparative randomized single-center study enrolled 110 patients with bilateral congenital ptosis. One group (n=55 underwent AFLS and the second group (n=55 underwent GTS. Exclusion criteria were good levator function, absent Bell’s phenomenon, and abnormal ocular motility. Follow-up period was 2 years. Functional outcome was measured from digital photos by analysis of upper eyelid margin position relative to the superior limbus and classified as very good (<3 mm, good (3–5 mm, poor (>5 mm, and recurrent. Aesthetic outcome was assessed in terms of lid contour, symmetry of eyelid height, and lid crease presence. Complications were also reported. Results: Failure rate (recurrence and complications was less in AFLS (P=0.035. Symmetrical lid height and good contour were more frequently attained by AFLS (P=0.007 and 0.047, respectively. However, the frequency of very good, good, poor, recurrence, lagopthalmos, ectropion, infection, and formed lid crease individually showed no statistically significant difference (P=0.252, 0.482, 1, 0.489, 0.438, 1, 0.618, and 0.506, respectively. Conclusion: AFLS is a better choice in surgery for patients with bilateral congenital ptosis because it has fewer complications and a lesser recurrence rate than GTS. Keywords: ptosis surgery, surgical outcomes, ptosis recurrence, lagophthalmos

  6. A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency.

    Science.gov (United States)

    Macchiaroli, Annamaria; Kelberman, Daniel; Auriemma, Renata Simona; Drury, Suzanne; Islam, Lily; Giangiobbe, Sara; Ironi, Gabriele; Lench, Nicholas; Sowden, Jane C; Colao, Annamaria; Pivonello, Rosario; Cavallo, Luciano; Gasperi, Maurizio; Faienza, Maria Felicia

    2014-01-25

    Heterozygous de novo mutations in SOX2 have been reported in approximately 10-20% of patients with unilateral or bilateral anophthalmia or microphthalmia. An additional phenotype of hypopituitarism, with anterior pituitary hypoplasia and hypogonadotropic hypogonadism, has been reported in patients carrying SOX2 alterations. We report a novel heterozygous mutation in the SOX2 gene in a male affected with congenital bilateral anophthalmia, hypogonadotrophic hypogonadism and growth hormone deficiency. The mutation we describe is a cytosine deletion in position 905 (c905delC) which causes frameshift and an aberrant C-terminal domain. Our report highlights the fact that subjects affected with eye anomalies and harboring SOX2 mutations are at high risk for gonadotropin deficiency, which has important implications for their clinical management. Copyright © 2013 Elsevier B.V. All rights reserved.

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

    DEFF Research Database (Denmark)

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

    2012-01-01

    People treated for bilateral congenital cataracts offer a model to study the influence of visual deprivation in early infancy on visual and multisensory development. We investigated cross-modal integration capabilities in cataract patients using a simple detection task that provided redundant...... 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....

  8. C.57 C > T Mutation in MIR 184 is Responsible for Congenital Cataracts and Corneal Abnormalities in a Five-generation Family from Galicia, Spain.

    Science.gov (United States)

    Bykhovskaya, Yelena; Caiado Canedo, Ana L; Wright, Kenneth W; Rabinowitz, Yaron S

    2015-01-01

    A c.57 C > T mutation in the seed region of MIR184 located at the 15q25.1 chromosomal region has been independently associated with autosomal dominant keratoconus with early-onset anterior polar cataract in the Northern Irish family and with autosomal dominant EDICT (Endothelial Dystrophy, Iris hypoplasia, Congenital cataracts, and stromal Thinning) syndrome. In this study we report a five-generation family originating in Galicia, Spain with early onset cataracts and variable corneal abnormalities which include non-ectatic corneal thinning and severe early-onset keratoconus. We identified a heterozygous c.57 C > T mutation in miR-184 in the proband and two additional affected relatives on the maternal side. This finding represents a third independent occurrence of this mutation in familiar ocular disease thus strengthening the link between miR-184 abnormalities and inherited eye defects.

  9. Optical coherence tomographic findings at the fixation point in a case of bilateral congenital macular coloboma.

    Science.gov (United States)

    Abe, Kosuke; Shirane, Jumi; Sakamoto, Masuo; Tanabe, Fumi; Kuniyoshi, Kazuki; Matsumoto, Chota; Shimomura, Yoshikazu

    2014-01-01

    Congenital macular coloboma is a rare ocular disease that consists of atrophic lesions in the macula with well-circumscribed borders. We report the findings of spectral domain optical coherence tomography (SD-OCT) at the fixation point in a case of bilateral macular coloboma. The subject is a 4-year-old boy. He visited our hospital at age 1 year and 4 months for the evaluation of strabismus. The fundus examination of both eyes showed round-shaped sharply-demarcated atrophic lesions involving the macula with large choroidal vessels and bared sclera at the base. Immunologic tests including toxoplasmosis, rubella, varicella, herpes virus, and human T-cell leukemia virus were all negative. At age 4 years and 1 month, cycloplegic refraction showed insignificant refractive errors and his best corrected visual acuity was 0.6 bilaterally. The SD-OCT showed a crater-like depression accompanying atrophic neurosensory retina, and the absence of retinal pigment epithelium and choroid. Examination of the fixation behavior by visuscope showed steady fixation with an area 0.5° nasal to the nasal edge of the atrophic lesion bilaterally. The SD-OCT findings at fixation area showed remaining normal retinal structures involving inner segment-outer segment (IS/OS) junction line. The findings of SD-OCT have been shown to be useful in the diagnosis of macular coloboma. In the fixation point, the structure of retina and choroid were well preserved.

  10. Congenital bilateral perisylvian syndrome with partial epilepsy. Case report with long-term follow-up.

    Science.gov (United States)

    Margari, Lucia; Lucia, Margari; Presicci, Anna; Anna, Presicci; Ventura, Patrizia; Patrizia, Ventura; Buttiglione, Maura; Maura, Buttiglione; Andreula, Cosma; Cosma, Andreula; Perniola, Tommaso; Tommaso, Perniola

    2005-01-01

    Congenital bilateral perisylvian syndrome (CBPS) is a rare neurological disorder characterised by pseudobulbar palsy, cognitive deficits and epilepsy associated with bilateral perisylvian cortical dysplasia on neuroimaging studies. We report a long-term follow-up of a 18-years girl diagnosed with CBPS according to the typical clinical and magnetic resonance imaging (MRI) features. The patient showed faciopharyngoglossomasticatory diplegia, severe dysarthria, ataxia, spastic quadriparesis and severe mental retardation. Brain MRI evidenced bilateral perisylvian cortical dysplasia. Since early life she suffered from complex febrile seizures and epilepsy consisting of complex partial attacks with affective manifestations associated with centro-temporal EEG abnormalities. During 18 years of follow-up she was treated with phenobarbital, carbamazepine, lamotrigine, gabapentin but did not show any significant clinical improvement. Subsequently, monotherapy with phenytoin (PHT) was followed by a significant clinical improvement. At age 17, because of adverse effects, PHT was gradually substituted by topiramate (TPM). Full control of seizures was obtained at the age of 17 years with TPM. EEG abnormalities throughout the years have been reduced according to the clinical course. These findings emphasised the importance of long-term follow-up, suggesting that the prognosis for epilepsy may not be predicted based on the early response to treatment or on the presence of structural encephalic abnormalities, as reported in the literature.

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

    Science.gov (United States)

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

    2007-02-15

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

  12. A 5-bp insertion in Mip causes recessive congenital cataract in KFRS4/Kyo rats.

    Directory of Open Access Journals (Sweden)

    Kei Watanabe

    Full Text Available We discovered a new cataract mutation, kfrs4, in the Kyoto Fancy Rat Stock (KFRS background. Within 1 month of birth, all kfrs4/kfrs4 homozygotes developed cataracts, with severe opacity in the nuclei of the lens. In contrast, no opacity was observed in the kfrs4/+ heterozygotes. We continued to observe these rats until they reached 1 year of age and found that cataractogenesis did not occur in kfrs4/+ rats. To define the histological defects in the lenses of kfrs4 rats, sections of the eyes of these rats were prepared. Although the lenses of kfrs4/kfrs4 homozygotes showed severely disorganised fibres and vacuolation, the lenses of kfrs4/+ heterozygotes appeared normal and similar to those of wild-type rats. We used positional cloning to identify the kfrs4 mutation. The mutation was mapped to an approximately 9.7-Mb region on chromosome 7, which contains the Mip gene. This gene is responsible for a dominant form of cataract in humans and mice. Sequence analysis of the mutant-derived Mip gene identified a 5-bp insertion. This insertion is predicted to inactivate the MIP protein, as it produces a frameshift that results in the synthesis of 6 novel amino acid residues and a truncated protein that lacks 136 amino acids in the C-terminal region, and no MIP immunoreactivity was observed in the lens fibre cells of kfrs4/kfrs4 homozygous rats using an antibody that recognises the C- and N-terminus of MIP. In addition, the kfrs4/+ heterozygotes showed reduced expression of Mip mRNA and MIP protein and the kfrs4/kfrs4 homozygotes showed no expression in the lens. These results indicate that the kfrs4 mutation conveys a loss-of-function, which leads to functional inactivation though the degradation of Mip mRNA by an mRNA decay mechanism. Therefore, the kfrs4 rat represents the first characterised rat model with a recessive mutation in the Mip gene.

  13. Anoftalmia clínica bilateral associada à hidrocefalia congênita em cão Bilateral clinical anophthalmia associated with congenital hydrocephalus in the dog

    Directory of Open Access Journals (Sweden)

    Mariana Isa Poci Palumbo

    2011-07-01

    Full Text Available A ausência completa do bulbo ocular é muito rara em cães e gatos, enquanto a hidrocefalia é comumente observada como distúrbio congênito em cães de raças miniatura ou braquicefálicas, com menos de um ano de idade. O presente trabalho relata a ocorrência de anoftalmia clínica bilateral associada à hidrocefalia congênita em um cão da raça poodle, sendo este o primeiro relato de caso da associação dessas alterações no Brasil.The complete absence of the eyeball is rare in dogs and cats, and hydrocephalus is commonly seen as a congenital disorder in toy or brachycephalic dogs before one year old. This paper describes for the first time in Brazil the occurrence of bilateral clinical anophthalmia associated to congenital hydrocephalus in a dog.

  14. Optical coherence tomographic findings at the fixation point in a case of bilateral congenital macular coloboma

    Directory of Open Access Journals (Sweden)

    Abe K

    2014-05-01

    Full Text Available Kosuke Abe,1,2 Jumi Shirane,2 Masuo Sakamoto,1 Fumi Tanabe,1 Kazuki Kuniyoshi,1 Chota Matsumoto,1 Yoshikazu Shimomura11Department of Ophthalmology, Kinki University Faculty of Medicine, Osaka-Sayama, Osaka, Japan; 2Nara Hospital, Kinki University Faculty of Medicine, Ikoma, Nara, JapanBackground: Congenital macular coloboma is a rare ocular disease that consists of atrophic lesions in the macula with well-circumscribed borders. We report the findings of spectral domain optical coherence tomography (SD-OCT at the fixation point in a case of bilateral macular coloboma.Case report: The subject is a 4-year-old boy. He visited our hospital at age 1 year and 4 months for the evaluation of strabismus. The fundus examination of both eyes showed round-shaped sharply-demarcated atrophic lesions involving the macula with large choroidal vessels and bared sclera at the base. Immunologic tests including toxoplasmosis, rubella, varicella, herpes virus, and human T-cell leukemia virus were all negative. At age 4 years and 1 month, cycloplegic refraction showed insignificant refractive errors and his best corrected visual acuity was 0.6 bilaterally. The SD-OCT showed a crater-like depression accompanying atrophic neurosensory retina, and the absence of retinal pigment epithelium and choroid. Examination of the fixation behavior by visuscope showed steady fixation with an area 0.5° nasal to the nasal edge of the atrophic lesion bilaterally. The SD-OCT findings at fixation area showed remaining normal retinal structures involving inner segment-outer segment (IS/OS junction line.Conclusion: The findings of SD-OCT have been shown to be useful in the diagnosis of macular coloboma. In the fixation point, the structure of retina and choroid were well preserved.Keywords: pediatric macular disease, macular structure, strabismus

  15. Late diagnosis and surgical treatment of patients diagnosed with unilateral congenital cataract at Fundación Visión, in Asuncion, Paraguay

    Directory of Open Access Journals (Sweden)

    Manuel Zegarra

    2014-10-01

    Full Text Available Purpose: Providing data on the late diagnosis and surgical treatment of patients who underwent surgery for total unilateral congenital cataract. Methods: Systematic retrospective review of the medical record of all patients between 0 and 16 years old with total unilateral congenital cataract who underwent surgery at Fundación Vision between January 2010 and July 2012. Results: Medical records of 37 patients (51 % females were studied, age was 7.4 (± 4.9 years (average ± SD and 62% lived on Departamento Central (the most populated region from Paraguay. A total of 97.3% patients underwent late surgical treatment and 86.5% received a late diagnosis. The average time elapsed between the diagnosis and the surgical treatment was one month, and 62.2% of the patients underwent surgery within six months from the diagnosis. Conclusion: This study evidences that most of the patients in our series had a late treatment as a result of a late diagnosis. Based on these results we recommend establishing strategies to improve the early detection and surgical treatment of the newborns.

  16. Late diagnosis and surgical treatment of patients diagnosed with unilateral congenital cataract at Fundación Visión, in Asuncion, Paraguay.

    Science.gov (United States)

    Zegarra, Manuel; Burga, Gisella Harumi; Lansingh, Van; Samudio, Margarita; Duarte, Edgar; Ferreira, Rocio; Dorantes, Yesenia; Ginés, Juan Carlos; Zepeda, Luz

    2014-10-01

    Purpose: Providing data on the late diagnosis and surgical treatment of patients who underwent surgery for total unilateral congenital cataract. Methods: Systematic retrospective review of the medical record of all patients between 0 and 16 years old with total unilateral congenital cataract who underwent surgery at Fundación Vision between January 2010 and July 2012. Results: Medical records of 37 patients (51 % females) were studied, age was 7.4 (± 4.9) years (average ± SD) and 62% lived on Departamento Central (the most populated region from Paraguay). A total of 97.3% patients underwent late surgical treatment and 86.5% received a late diagnosis. The average time elapsed between the diagnosis and the surgical treatment was one month, and 62.2% of the patients underwent surgery within six months from the diagnosis. Conclusion: This study evidences that most of the patients in our series had a late treatment as a result of a late diagnosis. Based on these results we recommend establishing strategies to improve the early detection and surgical treatment of the newborns.

  17. Rare case of massive congenital bilateral chylothorax in a hydropic fetus with true mosaicism 47,XXX/46,XX.

    Science.gov (United States)

    Cremonini, Giorgio; Poggi, Alice; Capucci, Roberta; Vesce, Fortunato; Patella, Alfredo; Marci, Roberto

    2014-01-01

    Fetal congenital chylothorax is a rare condition that occurs sporadically or can be associated with abnormal karyotype or structural chromosomal anomalies. We report a unique case of fetal congenital bilateral chylothorax associated with mosaicism 47,XXX/46,XX. A female fetus affected by massive bilateral hydrothorax and ascites was diagnosed at 34(+1) weeks of gestation. Previous ultrasonographic exams were completely normal. Immune causes of hydrops were excluded. Elective cesarean section was performed soon after bilateral thoracocentesis. The analysis of drained pleural fluid revealed its lymphatic nature. The fetal karyotyping, performed on chorionic villi at the 11th week, had shown mosaicism 47,XXX/46,XX, later confirmed in the newborn's blood. We hypothesized that chylothorax may be part of the phenotypic spectrum of 47 XXX karyotype and we suggest an ultrasound follow-up of the fetus at closer intervals than the routine timing for this condition, even if it is not usually characterized by severe phenotypic features. © 2013 The Authors. Journal of Obstetrics and Gynaecology Research © 2013 Japan Society of Obstetrics and Gynecology.

  18. DECIBEL study: Congenital cytomegalovirus infection in young children with permanent bilateral hearing impairment in the Netherlands

    NARCIS (Netherlands)

    Korver, A. M. H.; de Vries, J. J. C.; Konings, S.; de Jong, J. W.; Dekker, F. W.; Vossen, A. C. T. M.; Frijns, J. H. M.; Oudesluys-Murphy, A. M.; Wever, C. C.; Beers, M.; Soede, W.; Kant, S. G.; van den Akker-van Marle, M. E.; Rieffe, C.; Ens-Dokkum, M. H.; van Straaten, H. L. M.; Meuwese-Jongejeugd, J.; Elvers, B.; Loeber, G.; Maré, M. J.; Van Zanten, G. A.; Goedegebure, A.; Coster, F.; de Leeuw, M.; Dijkhuizen, J.; Scharloo, M.; Hoeben, D.; Rijpma, G.; Graef, W.; Linschoten, D.; Kuijper, J.; Hof, N. J.; Pans, D.; Jorritsma, F.; van Beurden, M.; ter Huurne, C. T.; Brienesse, P.; Koldewijn, G. J.; Letourneur, K. G.; Seekles, L.; Thijssen, A.; Lievense, A.; van Egdom-van der Wind, M.; Theunissen, S. C. P. M.; Mooij, S.

    2009-01-01

    A significant number of asymptomatic newborns infected with congenital cytomegalovirus (CMV) will present with permanent childhood hearing impairment (PCHI) during early childhood. To investigate the role of congenital CMV infection in causing PCHI in the Netherlands, and assess the efficacy of two

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

    NARCIS (Netherlands)

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

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

  20. Conservative approach for the management of congenital bilateral agenesis of permanent mandibular incisors: case report and literature review.

    Science.gov (United States)

    Zarow, M; D'Arcangelo, C; D'Amario, M; Marzo, G

    2015-06-01

    Agenesis of mandibular incisors can lead to compromised dental and facial aesthetics and therefore requires appropriate treatment. When retained primary incisors are associated to this condition, a medium-term restoration may be provided before any definitive treatment to provide aesthetic relief to the young patient. The aim of this paper is to discuss the aesthetic management of a case with bilateral congenital agenesis of permanent incisors and retained primary incisors, which were successfully treated with direct composite restorations. This appears a viable technique that restores function and aesthetics with a very conservative approach.

  1. Bilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly

    Directory of Open Access Journals (Sweden)

    Debangshu Ghosh

    2015-01-01

    Full Text Available Ectrodactyly-ectodermal dysplasia and clefting syndrome or "Lobster claw" deformity is a rare congenital anomaly that affects tissues of ectodermal and mesodermal origin. Nasolacrimal duct (NLD obstruction with or without atresia of lacrimal passage is a common finding of such a syndrome. The authors report here even a rarer presentation of the syndrome which manifested as bilateral NLD obstruction and lacrimal fistula along with cleft lip and palate, syndactyly affecting all four limbs, mild mental retardation, otitis media, and sinusitis. Lacrimal duct obstruction and fistula were managed successfully with endoscopic dacryocystorhinostomy (DCR which is a good alternative to lacrimal probing or open DCR in such a case.

  2. Spina bifida cystica and severe congenital bilateral talipes equinovarus in one twin of a monoamniotic pair: a case report.

    Science.gov (United States)

    Kadia, Benjamin Momo; Aroke, Desmond; Tianyi, Frank-Leonel; Bechem, Ndemazie Nkafu; Dimala, Christian Akem

    2017-12-28

    Spina bifida and congenital talipes equinovarus (CTEV) are common congenital malformations which may occur together and increase morbidity. Monozygous twins are particularly at risk of these malformations and discordance in one type of malformation is typical. The occurrence of both spina bifida and CTEV in one twin of a monozygotic pair is rare. A 22 year-old Cameroonian primigravida at 36 weeks of a twin gestation was received in our district hospital at the expulsive phase of labour on a background of sub-optimal antenatal care. A caesarean section indicated for cephalo-pelvic disproportion was performed and life monoamniotic male twins were extracted. The first twin was normal. The second twin had spina bifida cystica and severe bilateral CTEV. Routine postnatal care was ensured and at day 2 of life, the affected twin was evacuated to a tertiary hospital for proper management. He was later on reported dead from complications of hydrocephalus. Spina bifida cystica with severe bilateral CTEV in one twin of a monoamniotic pair illustrates the complexity in the interplay of causal factors of these malformations even among monozygotic twins who are assumed to share similar genetic and environmental features. The occurrence and poor outcome of the malformations was probably potentiated by poor antenatal care. With postnatal diagnoses, a better outcome was difficult to secure even with prompt referral. Early prenatal diagnoses and appropriate counseling of parents are cardinal.

  3. Transient bilateral diabetic cataracts in a Brazilian Terrier puppy Catarata diabética transitória bilateral em um filhote de Terrier Brasileiro

    Directory of Open Access Journals (Sweden)

    Carla de Freitas Campos

    2005-06-01

    Full Text Available A case of a Brazilian Terrier puppy presenting diabetic lens opacity that restored transparency after insulin therapy and control of blood glucose levels is reported. This entity has been rarely reported in human beings and has not been reported in dogs before. The rapid glycemic control may have been responsible for the transparency recovery.Relata-se o caso de um cão jovem, terrier brasileiro, apresentando opacidade lenticular diabética bilateral, a qual regrediu, sendo reassumida a transparência do cristalino após a terapia com insulina e controle dos níveis glicêmicos. Essa afecção tem sido reportada raramente em indivíduos da espécie humana, mas não há relatos de sua ocorrência em cães. O rápido controle glicêmico pode ter sido o responsável pela recuperação da transparência.

  4. A case of Biateral Extensive Persistent Pupillary Membranes with Amblyopia and Cataract

    Directory of Open Access Journals (Sweden)

    Sibel Kocabeyoğlu

    2013-01-01

    Full Text Available Persistent pupillary membrane represents a congenital remnant of the anterior tunica vasculosa lentis. It can be associated with other ocular pathologies. These membranes can cause deprivation or anisometropic amblyopia. The choice of treatment depends on the patient’s age and the characteristics of the membranes. In this paper, we report the findings in a 21-year-old female patient with bilateral persistent pupillary membranes, amblyopia, and cataract. (Turk J Ophthalmol 2013; 43: 70-2

  5. Congenital subaxial cervical subluxation presenting as a bilateral Erb's palsy: surgical management, rehabilitation, and outcome.

    Science.gov (United States)

    Sankaran, Ravi; Shah, Rohan; Menon, Sajesh; Pillai, Ashok

    2016-05-01

    Subaxial spine injuries during infancy are uncommon. We present the case of an infant referred to our brachial plexus clinic with proximal weakness of both arms noted immediately following a complicated breech delivery. Nerve conduction studies were consistent with bilateral proximal upper plexus injury; however, radiological evaluation revealed a C4-C5 subluxation and MRI features of bilateral C5 root avulsions. He was immobilized in a cervical-body orthosis and underwent open reduction and posterior C4-C5-C6 fixation at 10 weeks age using luque rods, sublaminar wires, and rib graft. The spine was immobilized in a custom molded cervicothoracic brace for a total of 3 months, and a home exercise program prescribed. Follow-up radiographic evaluation showed good posterior bony fusion by 2 months but persistent bilateral proximal upper limb weakness with reduced compound motor action potential (CMAP) amplitudes of the axillary and musculocutaneous nerves. Bilateral supraclavicular exploration and C5 root neurotization using the ipsilateral C7 nerve roots were performed at 7 months of age. Voluntary biceps activity followed by voluntary external rotation with gravity eliminated was noted within the next 2-3 months. He progressed to develop near normal motor control of bilateral upper limbs within 1 year. We wish to report this rare entity and our favorable outcome using a strategy of early spinal stabilization and neurotization repair to restore function following proximal nerve root injury.

  6. Congenital bilateral anterior nasal atresia in 16 half-sibling Holstein-Friesian calves.

    Science.gov (United States)

    McGowan, M; Smith, C; Ferguson, A; Stone, B; Vankan, D; Allavena, R

    2017-04-01

    Cases of bilateral anterior nasal atresia, sometimes referred to as arhinia or partial arhinia, are extremely rare in cattle and have only been reported as single events. This report describes the birth of 16 Holstein Friesian calves over a 3-month period, all affected with bilateral atresia of the nares and anterior nasal cavity, with 2 calves having additional severe deviation of the nasomaxillary bones and nasal septum. One affected calf was born with an anatomically normal twin. Parentage testing demonstrated that a single Holstein Friesian bull sired all cases tested. This is the first report of multiple cases of bilateral anterior nasal atresia in cattle with evidence that demonstrates a heritable condition. © 2017 Australian Veterinary Association.

  7. A validation study comparing self-reported travel diaries and objective data obtained from in-vehicle monitoring devices in older drivers with bilateral cataract.

    Science.gov (United States)

    Agramunt, Seraina; Meuleners, Lynn; Chow, Kyle Chi; Ng, Jonathon Q; Morlet, Nigel

    2017-09-01

    Advances in technology have made it possible to examine real-world driving using naturalistic data obtained from in-vehicle monitoring devices. These devices overcome the weaknesses of self-report methods and can provide comprehensive insights into driving exposure, habits and practices of older drivers. The aim of this study is to compare self-reported and objectively measured driving exposure, habits and practices using a travel diary and an in-vehicle driver monitoring device in older drivers with bilateral cataract. A cross-sectional study was undertaken. Forty seven participants aged 58-89 years old (mean=74.1; S.D.=7.73) were recruited from three eye clinics over a one year period. Data collection consisted of a cognitive test, a researcher-administered questionnaire, a travel diary and an in-vehicle monitoring device. Participants' driving exposure and patterns were recorded for one week using in-vehicle monitoring devices. They also completed a travel diary each time they drove a motor vehicle as the driver. Paired t-tests were used to examine differences/agreement between the two instruments under different driving circumstances. The data from the older drivers' travel diaries significantly underestimated the number of overall trips (pmonitoring devices. No significant differences were found between instruments for kilometres travelled under any of the driving circumstances. The results of this study found that relying solely on self-reported travel diaries to assess driving outcomes may not be accurate, particularly for estimates of the number of trips made and duration of trips. The clear advantages of using in-vehicle monitoring devices over travel diaries to monitor driving habits and exposure among an older population are evident. Copyright © 2016 Elsevier Ltd. All rights reserved.

  8. Paediatric cataract: challenges and complications

    Directory of Open Access Journals (Sweden)

    Dr P Vijayalakshmi

    2016-10-01

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

  9. Physiotherapy management of an infant with Bilateral Congenital Talipes Equino varus.

    Science.gov (United States)

    Ezeukwu, A O; Maduagwu, S M

    2011-09-01

    Clinicians are constantly seeking for the most ideal option in the management of Congenital Talipes Equino Varus (CTEV), especially among infants. This case report presents the outcome of a one year Physiotherapy management of an infant with Congenital Talipes Equino Varus (CTEV). Management commenced 48 hours after birth. During the first three months, passive stretching and strapping techniques were employed. Subsequently, plaster of Paris cast was applied using the serial plastering approach. Stretching continued each time the cast was removed for replacement. Follow up after one year showed that the child could walk with apparently normal gait and there was no residual deformity There is need for more enlightenment on the importance of early referral of CTEV cases for Physiotherapy care.

  10. cataract surgical services

    African Journals Online (AJOL)

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

  11. Congenital pouch colon in a girl associated with bilateral atresia of cervix uteri and uterus didelphys.

    Science.gov (United States)

    Chadha, Rajiv; Puri, Manju; Saxena, Rahul; Agarwala, Surendrakumar; Puri, Archana; Choudhury, Subhasis Roy

    2013-04-01

    This report describes a girl with congenital pouch colon (CPC), uterus didelphys with septate vagina, and a cloacal anomaly. The girl underwent cloacal reconstruction at the age of 15 months. Subsequently, at puberty, the child had primary amenorrhea with severe cyclic abdominal pain due to endometriosis of both the uteruses and adnexal cysts with hematometra and hematosalpinx. Laparotomy with removal of both uteri and the left fallopian tube was performed. Both uteri had atresia of the cervix uteri. This report emphasizes the need for comprehensive evaluation and a long-term management strategy for associated gynecologic anomalies in girls with CPC, especially with regard to patency of the outflow tract.

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

    Science.gov (United States)

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

    2003-11-01

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

  13. Bilateral maculopathy associated with Pierre Robin sequence.

    Science.gov (United States)

    Witmer, Matthew T; Vasan, Ryan; Levy, Richard; Davis, Jessica; Chan, R V Paul

    2012-08-01

    Pierre Robin sequence has been associated with a number of ocular complications, including myopia, strabismus, Möbius syndrome, nasolacrimal duct obstruction, glaucoma, cataract, microphthalmos, coloboma of choroid, and retinal detachment. We report a 10-day-old boy who presented with micrognathia, glossoptosis, and cleft palate as well as multiple congenital anomalies. Ophthalmic examination was notable for bilateral maculopathy, with focal areas of retinal and retinal pigment epithelial atrophy. The association of Pierre Robin sequence and maculopathy has been reported only twice previously. Copyright © 2012 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.

  14. Treating Cataracts

    Science.gov (United States)

    ... bright lights at night. I even saw three moons. It was very disturbing. Even though I'd ... the NIH's National Eye Institute, performs cataract surgery. Photo courtest of Dr. Rachel Bishop A cataract is ...

  15. Cataract removal

    Science.gov (United States)

    ... better. The procedure almost always includes placing an artificial lens (IOL) in the eye. Description Cataract surgery ... the old lens (cataract). It helps improve your vision. The doctor may close the incision with very ...

  16. Congenital and prolonged adult-onset deafness cause distinct degradations in neural ITD coding with bilateral cochlear implants.

    Science.gov (United States)

    Hancock, Kenneth E; Chung, Yoojin; Delgutte, Bertrand

    2013-06-01

    Bilateral cochlear implant (CI) users perform poorly on tasks involving interaural time differences (ITD), which are critical for sound localization and speech reception in noise by normal-hearing listeners. ITD perception with bilateral CI is influenced by age at onset of deafness and duration of deafness. We previously showed that ITD coding in the auditory midbrain is degraded in congenitally deaf white cats (DWC) compared to acutely deafened cats (ADC) with normal auditory development (Hancock et al., J. Neurosci, 30:14068). To determine the relative importance of early onset of deafness and prolonged duration of deafness for abnormal ITD coding in DWC, we recorded from single units in the inferior colliculus of cats deafened as adults 6 months prior to experimentation (long-term deafened cats, LTDC) and compared neural ITD coding between the three deafness models. The incidence of ITD-sensitive neurons was similar in both groups with normal auditory development (LTDC and ADC), but significantly diminished in DWC. In contrast, both groups that experienced prolonged deafness (LTDC and DWC) had broad distributions of best ITDs around the midline, unlike the more focused distributions biased toward contralateral-leading ITDs present in both ADC and normal-hearing animals. The lack of contralateral bias in LTDC and DWC results in reduced sensitivity to changes in ITD within the natural range. The finding that early onset of deafness more severely degrades neural ITD coding than prolonged duration of deafness argues for the importance of fitting deaf children with sound processors that provide reliable ITD cues at an early age.

  17. Congenital cataract causing mutants of αA-crystallin/sHSP form aggregates and aggresomes degraded through ubiquitin-proteasome pathway.

    Directory of Open Access Journals (Sweden)

    Ilangovan Raju

    Full Text Available BACKGROUND: Mutations of human αA-crystallin cause congenital cataract by protein aggregation. How mutations of αA-crystallin cause disease pathogenesis through protein aggregation is not well understood. To better understand the cellular events leading to protein aggregation, we transfected cataract causing mutants, R12C, R21L, R21W, R49C, R54C, R116C and R116H, of human αA-crystallin in HeLa cells and examined the formation of intracellular protein aggregates and aggresomes by confocal microscopy. METHODOLOGY/PRINCIPAL FINDINGS: YFP-tagged human αA-wild-type (αA-wt was sub-cloned and the mutants were generated by site-directed mutagenesis. The αA-wt and the mutants were individually transfected or co-transfected with CFP-tagged αA-wt or αB-wild-type (αB-wt in HeLa cells. Overexpression of these mutants forms multiple small dispersed cytoplasmic aggregates as well as aggresomes. Co-expression of αB-wt with these mutants significantly inhibited protein aggregates where as co-expression with αA-wt enhanced protein aggregates which seems to be due to co-aggregation of the mutants with αA-wt. Aggresomes were validated by double immunofluorescence by co-localization of γ-tubulin, a centrosome marker protein with αA-crystallin. Furthermore, increased ubiquitination was detected in R21W, R116C and R116H as assessed by western blot analyses. Immunostaining with an ubiquitin antibody revealed that ubiquitin inclusions in the perinuclear regions were evident only in R116C transfected cells. Pulse chase assay, after cycloheximide treatment, suggested that R116C degraded faster than the wild-type control. CONCLUSIONS/SIGNIFICANCE: Mutants of αA-crystallin form aggregates and aggresomes. Co-expression of αA-wt with the mutants increased aggregates and co-expression of αB-wt with the mutants significantly decreased the aggregates. The mutant, R116C protein degraded faster than wild-type control and increased ubiquitination was evident in R

  18. Interdisciplinary treatment of a patient with bilateral cleft lip and palate and congenitally missing and transposed teeth.

    Science.gov (United States)

    Germec-Cakan, Derya; Canter, Halil Ibrahim; Cakan, Umut; Demir, Becen

    2014-03-01

    The comprehensive treatment of a patient with cleft lip and palate requires an interdisciplinary approach for functional and esthetic outcomes. A 20-year-old woman with bilateral cleft lip and palate had a chief complaint of unesthetic appearance of her teeth and the presence of oronasal fistulae. Her clinical and radiographic evaluation showed a dolichofacial growth pattern, a Class II skeletal relationship with retroclined maxillary central incisors, 5 mm of negative overjet, maxillary constriction, maxillary and mandibular crowding, congenitally missing maxillary right incisors and left lateral incisor, and a transposed maxillary left canine. Her treatment plan included the extraction of 3 premolars, maxillary expansion, segmental maxillary osteotomy, repair of the oronasal fistulae, rhinoplasty, periodontal surgery, and prosthodontic rehabilitation. To obtain a better occlusion and reduce the dimensions of the fistulae, orthognathic surgery comprising linear and rotational movements of the maxillary segments (premaxilla, right and left maxillary alveolar segments) in all 3 axes was planned by performing 3-dimensional virtual surgery on 3-dimensional computerized tomography. At the end of the interdisciplinary treatment, a functional occlusion, a harmonious profile, and patient satisfaction were achieved. Posttreatment records after 1 year showed stable results. Copyright © 2014 American Association of Orthodontists. Published by Mosby, Inc. All rights reserved.

  19. [Congenital bilateral absence of vas deferens: From diagnosis to assisted reproductive techniques - the experience of three centers].

    Science.gov (United States)

    Beauvillard, D; Perrin, A; Drapier, H; Ravel, C; Fréour, T; Férec, C; De Braekeleer, M; Amice, V

    2015-05-01

    To review the management with assisted reproductive technologies (ART) of men with congenital bilateral absence of vas deferens (CBAVD), associated with cystic fibrosis or not, after surgical retrieval [epididymal aspiration (MESA) or testicular biopsy (TESE)]. Multicenter retrospective study made of 2 groups: CBAVD and cystic fibrosis (CF) or CBAVD only (CF-RD). Two centers performed MESA (Brest and Nantes) and one TESE (Rennes). Sperm numeration, motility, vitality, morphology and nuclear maturity were measured in both centers performing MESA. Fertilization rate (TF) and cumulated progressive pregnancy rate by retrieved oocyte (TGC) were compared between centers following ART. Ninety patients underwent surgical retrieval between January 1996 and March 2013, 30 in the CF group and 60 in the CF-RD group. Semen parameters were comparable between groups and centers. Fifty-eight (22 in the CF group and 36 in the CF-RD group) patients received ART between April 1996 and October 2014. TF was 50% and 52% and TGC 26% and 32% in the CF group and CF-RD groups, respectively. The results did not differ between groups but TGC was higher in Rennes than in the other two centers. Both semen parameters and ART results are comparable and similar to those reported in the literature. As shown by the results obtained in Rennes, TESE seems to be more effective. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  20. The congenital cataract-linked A2V mutation impairs tetramer formation and promotes aggregation of βB2-crystallin.

    Directory of Open Access Journals (Sweden)

    Jia Xu

    Full Text Available β/γ-Crystallins, the major structural proteins in human lens, are highly conserved in their tertiary structures but distinct in the quaternary structures. The N- and C-terminal extensions have been proposed to play a crucial role in mediating the size of β-crystallin assembly. In this research, we investigated the molecular mechanism underlying the congenital hereditary cataract caused by the recently characterized A2V mutation in βB2-crystallin. Spectroscopic experiments indicated that the mutation did not affect the secondary and tertiary structures of βB2-crystallin. The mutation did not affect the formation of βB2/βA3-crystallin heteromer as well as the stability and folding of the heteromer, suggesting that the mutation might not interfere with the protein interacting network in the lens. However, the tetramerization of βB2-crystallin at high protein concentrations was retarded by the A2V mutation. The mutation slightly decreased the thermal stability and promoted the thermal aggregation of βB2-crystallin. Although it did not influence the stability of βB2-crystallin against denaturation induced by chemical denaturants and UV irradiation, the A2V mutant was more prone to be trapped in the off-pathway aggregation process during kinetic refolding. Our results suggested that the A2V mutation might lead to injury of lens optical properties by decreasing βB2-crystallin stability against heat treatment and by impairing βB2-crystallin assembly into high-order homo-oligomers.

  1. Genetics Home Reference: hyperferritinemia-cataract syndrome

    Science.gov (United States)

    ... can hold as many as 4,500 iron atoms inside its spherical structure. This storage capacity allows ... with congenital cataracts University of Arizona College of Medicine Patient Support and Advocacy Resources (1 link) National ...

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

    Science.gov (United States)

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

    2018-03-01

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

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

    African Journals Online (AJOL)

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

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

    Directory of Open Access Journals (Sweden)

    Marcia Beatriz Tartarella

    2013-06-01

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

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

    Directory of Open Access Journals (Sweden)

    Gosal Gurinder S

    2011-03-01

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

  6. Cystic fibrosis transmembrane conductance regulator mutations and polymorphisms associated with congenital bilateral absence of vas deferens in a restricted group of patients from North Africa.

    Science.gov (United States)

    Boudaya, M; Fredj, S Hadj; Haj, R Bel; Khrouf, M; Bouker, A; Halouani, L; Messaoud, T

    2012-01-01

    Congenital bilateral absence of vas deferens (CBAVD) is responsible for 2-6% of male infertility. It occurs in 95% of men with cystic fibrosis. This malformation is present in patients with a sterile obstructive azoospermia but without clinical evidence of cystic fibrosis. Molecular study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene responsible for cystic fibrosis could show the relationship between this disease and bilateral absence of vas deferens. The study involved 20 male patients aged between 28-40 years, referred with suspected cystic fibrosis and in whom bilateral absence of vas deferens was confirmed by cyto-biochemical analyses and urogenital ultrasound. Molecular study of the CFTR gene was based on several techniques: DHPLC, DGGE and direct sequencing. Thirteen patients had CFTR mutations: F508del, G542X, W1282X, E1104X, 711+1G → T, V201M (TG) m and IVS8-5T. These mutations were associated with polymorphisms: M470V and D1270N. Seven cases presented only polymorphisms. The different mutations found in this study were associated with polymorphisms which decrease the severity of the disease and delay its onset. Thus, bilateral agenesis of the vas deferens is classed as a form of cystic fibrosis with only genital expression.

  7. Cataract Vision Simulator

    Science.gov (United States)

    ... and Videos: What Do Cataracts Look Like? Cataract Vision Simulator Leer en Español: Simulador: Catarata Jun. 11, 2014 How do cataracts affect your vision? A cataract is a clouding of the eye's ...

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

    Science.gov (United States)

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

    1990-01-01

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

  9. [Sensori-motor neuropathy associated with congenital bilateral club feet: histological and ultrastructural study of the sural nerve].

    Science.gov (United States)

    Yoshimura, N; Fukuhara, N; Noguchi, T

    1988-09-01

    A 53-year-old female with sensori-motor neuropathy associated with bilateral club feet was reported. She was admitted because of numbness in the bilateral feet and gait disturbance. Her parents were not related. There was no family history of any neurological diseases. She had bilateral club feet which were present at birth to developed in early childhood. She could walk, but could not run. Since 5 years prior to the admission she noted gradually increasing disturbance of gait. Neurological examination revealed muscular weakness and wasting in the distal parts of the lower extremities and decreased deep tendon reflexes. There were hypesthesia, hypalgesia and dysesthesia in the lateral portions of the bilateral feet. Deep sensation was normal. There was no weakness or wasting in the upper extremities. Motor nerve conduction velocities were normal and sensory nerve conduction velocities were reduced in the median nerve. No action potentials could not be elicited in the bilateral tibial and peroneal nerves. A sural nerve biopsy showed a markedly hypertrophic perineurium, 28-150 micron thick, a large Renaut body measured 140 micron by 200 micron in diameters and a markedly reduced number of the myelinated fibers. Fiber size histogram showed many unmyelinated fibers larger than 1 micron, despite loss of fibers of the usual size. Therefore, a part of the unmyelinated fibers might be demyelinated. There were no axonal degeneration and onion-bulb formation. Segmental demyelination was found in approximately 30% of the myelinated fibers.(ABSTRACT TRUNCATED AT 250 WORDS)

  10. The Paediatric Cataract Register (PECARE): an overview of operated childhood cataract in Sweden and Denmark.

    Science.gov (United States)

    Magnusson, Gunilla; Haargaard, Birgitte; Basit, Saima; Lundvall, Anna; Nyström, Alf; Rosensvärd, Annika; Tornqvist, Kristina

    2018-02-01

    To report basic epidemiological data concerning surgically treated childhood cataract in Sweden and Denmark. Data were derived from the Paediatric Cataract Register (PECARE), a binational, web-based surgical register representing Sweden and Denmark. All children operated before 8 years of age between 1 January 2007 and 31 December 2013 were included. Age-specific prevalence per 100 000 population was calculated. A total 574 operations in 213 boys (51.7%) and 199 girls (48.3%), altogether 412 children, were registered, the vast majority (n = 395/412; 95.9%) being individuals with congenital/infantile cataract. Of these 412, a total of 294 (147 boys and 147 girls) were Swedish and 118 (66 boys and 52 girls) were Danish. The age-specific prevalence of operated cataract in Sweden was 31/100 000 and in Denmark 28/100 000. In 454 of 574 eyes (79.1%), the cataract was dense. Altogether, 266 of 574 (46.3%) were operated during the first year of life, 193 during the first 12 weeks representing 33.6% of all operations. A primary intraocular lens (IOL) implantation was done in altogether 411 of 574 eyes (71,6%). In total, 210 unilateral cataract operations (210/574; 36.6%) were performed. Persistent fetal vasculature (PFV) was present in 64 of 193 (33.1%) of those with a congenital unilateral cataract. In 84 individuals (84/395; 21.3%) with congenital or infantile cataract, a coexisting disorder was found. The age-specific binational prevalence of operated congenital/infantile cataract in Sweden and Denmark is 30/100 000. About half of the operations are performed within the first year of life, one-third within the first 3 months. In our study population, a primary IOL was implanted in the majority of cases. © 2017 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.

  11. Comprehensive management of pediatric cataract in Africa | Adio ...

    African Journals Online (AJOL)

    Worldwide, childhood blindness is 0.75/1000 children giving an estimated number of 1.4 million suffering from blindness worldwide. Of the blind children worldwide, congenital cataract is the major cause in African countries. The management of cataract in children poses a challenge to the African ophthalmologist, and the ...

  12. Facts about Cataract

    Science.gov (United States)

    ... cataract in their 40s and 50s. But during middle age, most cataracts are small and do not affect ... symptoms of early cataract may be improved with new eyeglasses, brighter lighting, anti-glare sunglasses, or magnifying ...

  13. Aging and Health: Cataracts

    Science.gov (United States)

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

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

    African Journals Online (AJOL)

    tulyasys

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

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

    Science.gov (United States)

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

    2017-04-01

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

  16. Hallermann–Streiff syndrome with severe bilateral enophthalmos and radiological evidence of silent brain syndrome: a new congenital silent brain syndrome?

    Directory of Open Access Journals (Sweden)

    Nucci P

    2011-07-01

    Full Text Available Paolo Nucci¹, Carlo de Conciliis², Matteo Sacchi¹, Massimiliano Serafino¹¹Eye Clinic, San Giuseppe Hospital, University of Milan, ²Eye Clinic, Istituto Auxologico Italiano, Milan, ItalyBackground: We present the first case of a congenital form of silent brain syndrome (SBS in a young patient affected by Hallermann–Streiff syndrome (HSS and the surgical management of the associated eyelid anomalies.Methods: HSS signs were evaluated according to the Francois criteria. Orbital computed tomography (CT and genetic analysis were performed. An upper eyelid retractor-free recession was performed. Follow-up visits were performed at day 1, weeks 1 and 3, and months 3, 6, 9 (for both eyes, and 12 (for left eye after surgery.Results: The patient exhibited six of the seven signs of HSS. Orbital CT showed bilateral enophthalmos and upward bowing of the orbital roof with air entrapment under the upper eyelid as previously described for SBS. Genetic analysis showed a 2q polymorphism. During follow-up, the cornea showed absence of epithelial damage and the upper eyelids were lowered symmetrically, with a regular contour.Conclusion: Our HSS patient shares features with SBS. We postulate that SBS could include more than one pattern, ie, an acquired form following ventriculoperitoneal shunting and this newly reported congenital form in our HSS patient in whom typical syndromic skull anomalies led to this condition. The surgical treatment has been effective in restoring an appropriate lid level, with good globe apposition and a good cosmetic result.Keywords: Hallermann–Streiff syndrome, silent brain syndrome, upper eyelid entropion

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

    Directory of Open Access Journals (Sweden)

    Márcia Lima Santos Oliveira

    2004-12-01

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

  18. Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.

    Science.gov (United States)

    Liu, Yichuan; Li, Yun; March, Michael E; Nguyen, Kenny; Kenny, Nguyen; Xu, Kexiang; Wang, Fengxiang; Guo, Yiran; Keating, Brendan; Glessner, Joseph; Li, Jiankang; Ganley, Theodore J; Zhang, Jianguo; Deardorff, Matthew A; Xu, Xun; Hakonarson, Hakon

    2015-11-11

    Absence of the anterior (ACL) or posterior cruciate ligament (PCL) are rare congenital malformations that result in knee joint instability, with a prevalence of 1.7 per 100,000 live births and can be associated with other lower-limb abnormalities such as ACL agnesia and absence of the menisci of the knee. While a few cases of absence of ACL/PCL are reported in the literature, a number of large familial case series of related conditions such as ACL agnesia suggest a potential underlying monogenic etiology. We performed whole exome sequencing of a family with two individuals affected by ACL/PCL. We identified copy number variation (CNV) deletion impacting the exon sequences of CEP57L1, present in the affected mother and her affected daughter based on the exome sequencing data. The deletion was validated using quantitative PCR (qPCR), and the gene was confirmed to be expressed in ACL ligament tissue. Interestingly, we detected reduced expression of CEP57L1 in Epstein-Barr virus (EBV) cells from the two patients in comparison with healthy controls. Evaluation of 3D protein structure showed that the helix-binding sites of the protein remain intact with the deletion, but other functional binding sites related to microtubule attachment are missing. The specificity of the CNV deletion was confirmed by showing that it was absent in ~700 exome sequencing samples as well as in the database of genomic variations (DGV), a database containing large numbers of annotated CNVs from previous scientific reports. We identified a novel CNV deletion that was inherited through an autosomal dominant transmission from an affected mother to her affected daughter, both of whom suffered from the absence of the anterior and posterior cruciate ligaments of the knees.

  19. A Case of Bilateral Testicular Tumors Subsequently Diagnosed as Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

    Directory of Open Access Journals (Sweden)

    Yan-Kun Sha

    2016-12-01

    Full Text Available 21-hydroxylase deficiency (21-OHD caused congenital adrenal hyperplasia (CAH is a group of autosomal recessive genetic disorders resulting from mutations in genes involved with cortisol (CO synthesis in the adrenal glands. Testicular adrenal rest tumors (TARTs are rarely the presenting symptoms of CAH. Here, we describe a case of simple virilizing CAH with TARTs, in a 15-year-old boy. The patient showed physical signs of precocious puberty. The levels of blood adrenocorticotropic hormone (ACTH, urinary 17-ketone steroids (17-KS, dehydroepiandrosterone sulfate (DHEA-S, and serum progesterone (PRGE were elevated, whereas those of follicle-stimulating hormone (FSH, luteinizing hormone (LH, and CO were reduced. Computed tomography (CT of the adrenal glands and magnetic resonance imaging (MRI of the testes showed a soft tissue density (more pronounced on the right side and an irregularly swollen mass (more pronounced on the left side, respectively. Pathological examination of a specimen of the mass indicated polygonal/circular eosinophilic cytoplasm, cord-like arrangement of interstitial cells, and lipid pigment in the cytoplasm. Immunohistochemistry results precluded a diagnosis of Leydig cell tumors. DNA sequencing revealed a hackneyed homozygous mutation, I2g, on intron 2 of the CYP21A2 gene. The patient’s symptoms improved after a three-month of dexamethasone therapy. Recent radiographic data showed reduced hyperplastic adrenal nodules and testicular tumors. A diagnosis of TART should be considered and prioritized in CAH patients with testicular tumors. Replacement therapy using a sufficient amount of dexamethasone in this case helps combat TART.

  20. The Effect of Cataract Surgery on Circadian Photoentrainment

    DEFF Research Database (Denmark)

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

    2015-01-01

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

  1. Bilateral sequential cochlear implantation in the congenitally deaf child: evidence to support the concept of a 'critical age' after which the second ear is less likely to provide an adequate level of speech perception on its own.

    Science.gov (United States)

    Graham, John; Vickers, Debi; Eyles, Julie; Brinton, Julie; Al Malky, Ghada; Aleksy, Wanda; Martin, Jane; Henderson, Lise; Mawman, Deborah; Robinson, Philip; Midgley, Elizabeth; Hanvey, Kate; Twomey, Tracey; Johnson, Susan; Vanat, Zebunnisa; Broxholme, Cath; McAnallen, Cecilia; Allen, Agnes; Bray, Monica

    2009-09-01

    This study attempts to answer the question of whether there is a 'critical age' after which a second contralateral cochlear implant is less likely to provide enough speech perception to be of practical use. The study was not designed to predict factors that determine successful binaural implant use, but to see if there was evidence to help determine the latest age at which the second ear can usefully be implanted, should the first side fail and become unusable.Outcome data, in the form of speech perception test results, were collected from 11 cochlear implant programmes in the UK and one centre in Australia. Forty-seven congenitally bilaterally deaf subjects who received bilateral sequential implants were recruited to the study. The study also included four subjects with congenital unilateral profound deafness who had lost all hearing in their only hearing ear and received a cochlear implant in their unilaterally congenitally deaf ear. Of those 34 subjects for whom complete sets of data were available, the majority (72%) of those receiving their second (or unilateral) implant up to the age of 13 years scored 60 per cent or above in the Bamford Kowal Bench (BKB) sentence test, or equivalent. In contrast, of those nine receiving their second or unilateral implant at the age of 15 or above, none achieved adequate levels of speech perception on formal testing: two scored 29 per cent and 30 per cent, respectively, and the rest seven per cent or less.A discriminant function analysis performed on the data suggests that it is unlikely that a second contralateral implant received after the age of 16 to 18 years will, on its own, provide adequate levels of speech perception. As more children receive sequential bilateral cochlear implants and the pool of data enlarges the situation is likely to become clearer.The results provide support for the concept of a 'critical age' for implanting the second ear in successful congenitally deaf unilateral cochlear implant users. This

  2. Cataract surgery in Knobloch syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Bongiovanni CS

    2011-06-01

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

  3. [Congenital aniridia].

    Science.gov (United States)

    Chiruţa, Daria; Stan, Cristina

    2014-01-01

    Aniridia is a rare congenital, hereditary, bilateral disease which is associated with various systemic and ocular defects. We present the case of a 61 year old patient who was admitted in the hospital of ophthalmology Cluj Napoca, for the symptoms caused by the ocular defects associated with aniridia. In this case, aniridia is autosomal dominant transmitted with incomplete penetrance and it is not accompanied by any systemic defects. The disease also affects three of her sons and two nephews of the patient.

  4. Congenital Hydrocephalus.

    Science.gov (United States)

    Estey, Chelsie M

    2016-03-01

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

  5. Bilateral meandering pulmonary veins

    Energy Technology Data Exchange (ETDEWEB)

    Thupili, Chakradhar R.; Udayasankar, Unni [Pediatric Imaging, Imaging Institute Cleveland Clinic, Cleveland, OH (United States); Renapurkar, Rahul [Imaging Institute Cleveland Clinic, Thoracic Imaging, L10, Cleveland, OH (United States)

    2015-06-15

    Meandering pulmonary veins is a rare clinical entity that can be mistaken for more complex congenital syndromes such as hypogenetic lung syndrome. We report imaging findings in a rare incidentally detected case of bilateral meandering pulmonary veins. We briefly discuss the role of imaging in diagnosing this condition, with particular emphasis on contrast-enhanced CT. (orig.)

  6. Cataract Surgery with a Refractive Corneal Inlay in Place

    OpenAIRE

    Stojanovic, N. R.; Panagopoulou, S. I.; Pallikaris, I. G.

    2015-01-01

    Purpose. To present a case of cataract surgery performed in a patient with a refractive corneal inlay in place. Methods. A 48-year-old female patient presented to our institute with bilateral cataract. The patient had undergone refractive corneal inlay implantation three years ago in her right, nondominant eye for presbyopia correction. Biometry and intraocular lens (IOL) power calculation were performed without removing the inlay. Phacoemulsification and IOL insertion were carried out in bot...

  7. 2 SISTERS WITH MENTAL-RETARDATION, CATARACT, ATAXIA, PROGRESSIVE HEARING-LOSS, AND POLYNEUROPATHY

    NARCIS (Netherlands)

    BEGEER, JH; SCHOLTE, FA; VANESSEN, AJ

    1991-01-01

    Two sisters are described with a disorder characterised by mental retardation, congenital cataract, progressive spinocerebellar ataxia, sensorineural deafness, and signs of peripheral neuropathy. Progressive hearing loss, ataxia, and polyneuropathy became evident in the third decade. The

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

    Directory of Open Access Journals (Sweden)

    Satish D. Shet

    2017-09-01

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

  9. impairs gap junction function causing congenital cataract

    Indian Academy of Sciences (India)

    LIJUAN CHEN

    2017-12-20

    insoluble fractions. Cell lysates were loaded on a 10% SDS acrylamide gel and analysed by western blotting. The intensities of bands were analysed using den- sitometry by NIH Image J software. Scrape loading dye transfer assay.

  10. A locus for isolated cataract on human Xp.

    Science.gov (United States)

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

    2002-02-01

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

  11. Anesthetic management of cardiac patient for cataract surgery

    International Nuclear Information System (INIS)

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

    2003-01-01

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

  12. Atomic bomb cataracts

    International Nuclear Information System (INIS)

    Shiraeda, Kanji

    1992-01-01

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

  13. Cataract surgery during active methicillin-resistant Staphylococcus aureus infection

    Directory of Open Access Journals (Sweden)

    Mansour AM

    2014-04-01

    Full Text Available Ahmad M Mansour,1,2 Haytham I Salti11Department of Ophthalmology, American University of Beirut, 2Rafic Hariri University Hospital, Beirut, LebanonAbstract: We present two patients with active, foul-smelling, methicillin-resistant ­Staphylococcus aureus (MRSA wounds of the forehead and sternum following craniotomy or open heart surgery. Both had debilitating cataracts and were told by the infectious diseases team that cataract surgery is very risky. Both underwent sequential bilateral phacoemulsification with no sign of infection. Patients with active MRSA wound infections may safely undergo cataract surgery with additional precautions observed intraoperatively (good wound construction and postoperatively (topical antibiotics and close observation. Banning such surgeries can unnecessarily jeopardize the lifestyles of such patients.Keywords: cataract, infection, methicillin-resistant Staphylococcus aureus, phacoe­mulsification

  14. Cataract surgery in a case of carotid cavernous fistula

    Directory of Open Access Journals (Sweden)

    Akshay Gopinathan Nair

    2014-01-01

    Full Text Available 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.

  15. Keratomycosis after cataract surgery.

    Science.gov (United States)

    Mendicute, J; Orbegozo, J; Ruiz, M; Sáiz, A; Eder, F; Aramberri, J

    2000-11-01

    To evaluate cases and results of keratomycosis that developed after cataract surgery. Hospital de Guipúzcoa, San Sebastián, Spain. This retrospective study comprised 8 patients who developed keratomycosis soon after cataract surgery. Culture analysis revealed 7 cases of Aspergillus fumigatus and 1 of Aspergillus flavus. After medical treatment with antifungal agents, 6 cases resolved and 2 required evisceration. The presence of fungi in corneal ulcers that develop after cataract surgery should be considered. Initiation of early treatment determines the prognosis. Among the therapeutic options, collagen shields soaked in amphotericin B may be effective.

  16. Bilateral agenesis of the internal carotid artery: case report

    International Nuclear Information System (INIS)

    Kim, Hye Seon; Lee, Seung Rho; Park, Dong Woo; Hahm, Chang Kok

    2004-01-01

    Unilateral or, particularly, bilateral congenital agenesis of the internal carotid artery is a rare anomaly. We report an occurrence of the condition, arising bilaterally, and report the findings of magnetic resonance imaging and magnetic resonance angiography

  17. Bilateral agenesis of the internal carotid artery: case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Hye Seon; Lee, Seung Rho; Park, Dong Woo; Hahm, Chang Kok [College of Medicine, Hanynang Univ., Seoul (Korea, Republic of)

    2004-02-01

    Unilateral or, particularly, bilateral congenital agenesis of the internal carotid artery is a rare anomaly. We report an occurrence of the condition, arising bilaterally, and report the findings of magnetic resonance imaging and magnetic resonance angiography.

  18. Viscoless microincision cataract surgery

    Directory of Open Access Journals (Sweden)

    Guy Sallet

    2008-06-01

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

  19. Solar ultraviolet radiation cataract.

    Science.gov (United States)

    Löfgren, Stefan

    2017-03-01

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

  20. Congenital absence of the bilateral internal carotid artery: a review of the associated (ab)normalities from a newborn status to the eighth decade of life.

    Science.gov (United States)

    Vasović, Ljiljana; Trandafilović, Milena; Vlajković, Slobodan; Radenković, Goran

    2018-01-01

    Due to the fact that the internal carotid artery (ICA) is responsible for nourishing two thirds of the brain volume, our aim was to inspect the morphofunctional consequences of the bilateral lack of this artery. In order to examine this condition, we referred to both the library archive of our Faculty of Medicine and electronic databases of anatomical and clinical reports that included the following keywords: "absence," "aplasia," or "agenesis" in combination with "internal carotid artery," "common carotid artery," or only "carotid artery." We found 60 recorded cases of the bilateral ICA absence in the subjects of newborn status to the eighth decade of life, which had been discovered in 20 countries. The following ten parameters were described: the embryological base, terminology, history, incidence, general data, differential diagnosis, collateral circulation, the associated vascular aplasia and/or other variants, pathophysiology, and the importance in praxis. This review noted all the cases of the bilateral ICA aplasia published for the past 104 years. Although there were 11.6% of cases of the associated cerebral aneurysms and 1-4 cases of 16 other diseases, approximately one quarter of the cases was without any pathology.

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

    Directory of Open Access Journals (Sweden)

    Rosa María Naranjo Fernández

    2011-12-01

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

  2. Altered Brain Functional Activity in Infants with Congenital Bilateral Severe Sensorineural Hearing Loss: A Resting-State Functional MRI Study under Sedation

    Directory of Open Access Journals (Sweden)

    Shuang Xia

    2017-01-01

    Full Text Available Early hearing deprivation could affect the development of auditory, language, and vision ability. Insufficient or no stimulation of the auditory cortex during the sensitive periods of plasticity could affect the function of hearing, language, and vision development. Twenty-three infants with congenital severe sensorineural hearing loss (CSSHL and 17 age and sex matched normal hearing subjects were recruited. The amplitude of low frequency fluctuations (ALFF and regional homogeneity (ReHo of the auditory, language, and vision related brain areas were compared between deaf infants and normal subjects. Compared with normal hearing subjects, decreased ALFF and ReHo were observed in auditory and language-related cortex. Increased ALFF and ReHo were observed in vision related cortex, which suggest that hearing and language function were impaired and vision function was enhanced due to the loss of hearing. ALFF of left Brodmann area 45 (BA45 was negatively correlated with deaf duration in infants with CSSHL. ALFF of right BA39 was positively correlated with deaf duration in infants with CSSHL. In conclusion, ALFF and ReHo can reflect the abnormal brain function in language, auditory, and visual information processing in infants with CSSHL. This demonstrates that the development of auditory, language, and vision processing function has been affected by congenital severe sensorineural hearing loss before 4 years of age.

  3. Altered Brain Functional Activity in Infants with Congenital Bilateral Severe Sensorineural Hearing Loss: A Resting-State Functional MRI Study under Sedation

    Science.gov (United States)

    Che, Jing; Li, Qiang; Chai, Chao; Zheng, Meizhu; Shen, Wen

    2017-01-01

    Early hearing deprivation could affect the development of auditory, language, and vision ability. Insufficient or no stimulation of the auditory cortex during the sensitive periods of plasticity could affect the function of hearing, language, and vision development. Twenty-three infants with congenital severe sensorineural hearing loss (CSSHL) and 17 age and sex matched normal hearing subjects were recruited. The amplitude of low frequency fluctuations (ALFF) and regional homogeneity (ReHo) of the auditory, language, and vision related brain areas were compared between deaf infants and normal subjects. Compared with normal hearing subjects, decreased ALFF and ReHo were observed in auditory and language-related cortex. Increased ALFF and ReHo were observed in vision related cortex, which suggest that hearing and language function were impaired and vision function was enhanced due to the loss of hearing. ALFF of left Brodmann area 45 (BA45) was negatively correlated with deaf duration in infants with CSSHL. ALFF of right BA39 was positively correlated with deaf duration in infants with CSSHL. In conclusion, ALFF and ReHo can reflect the abnormal brain function in language, auditory, and visual information processing in infants with CSSHL. This demonstrates that the development of auditory, language, and vision processing function has been affected by congenital severe sensorineural hearing loss before 4 years of age. PMID:28255465

  4. CONGENITAL ANTERIOR TIBIOFEMURAL SUBLUXATION

    Directory of Open Access Journals (Sweden)

    A. Shahla

    2008-06-01

    Full Text Available Congenital anterior tibiofemoral subluxation is an extremely rare disorder. All reported cases accompanied by other abnormalities and syndromes. A 16-year-old high school girl referred to us with bilateral anterior tibiofemoral subluxation as the knees were extended and reduced at more than 30 degrees flexion. Deformities were due to tightness of the iliotibial band and biceps femuris muscles and corrected by surgical release. Associated disorders included bilateral anterior shoulders dislocation, short metacarpals and metatarsals, and right calcaneuvalgus deformity.

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

    Science.gov (United States)

    Russell-Eggitt, I M

    2000-12-01

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

  6. [Cataract surgery in children].

    Science.gov (United States)

    Pavlović, S

    2000-01-01

    Cataract extraction in children has improved and became more popular over the past few decades but, due to particular features of children's eyes, still remains controversial--especially regarding the intraocular lens implantation. In contrast to adults, indications for cataract surgery in children are much more difficult to determine. Since subjective visual acuity cannot be obtained, greater reliance must be placed on the morphology and location of the lens opacity, and the behavior of the child. Forced preferential looking and visual evoked potentials can be helpful, but they should not be the only criteria. In management of pediatric cataract, correction of postoperative aphakia is still an incompletely resolved problem. Conventionally, optical correction is achieved by spectacles or contact lenses. The power of both spectacles and contact lenses can be readily adjusted to compensate for ocular growth. The success of both depends significantly on parental compliance and the child's acceptance. Hutchinson reported that 44% children with aphakia stopped wearing glasses or contact lenses 2 months after surgery. Contact lens wearing can also result in a number of corneal complications, including infectious keratitis, corneal vascularization and hypoxic corneal ulceration. IOL implantation is theoretically superior to glasses and contact lenses since it provides almost immediate optical correction which is much more reliable because it does not depend on parental or child's compliance. Still, there are many controversies about IOL implantation in infants and young children like IOL-size, material, IOL power calculation, prevention and management of secondary cataract, as well as long term safety of IOLs in children's eyes. Although short-term anatomic results after cataract extraction and primary IOL implantation in children are excellent and stable, long-term follow-up is necessary to answer questions about the long-term safety of implants in children's eyes. A

  7. Visual Outcome of Cataract Surgery

    African Journals Online (AJOL)

    non-governmental organization (Amen Foundation) to commence a free cataract surgery programme in January. 2008. Since its inception, the patient turnout for cataract surgery has increased. The World Health Organization (WHO) categorizes the outcome of cataract surgeries into 3 groups: good (visual acuity of 6/ 6-6/ ...

  8. The effect of video game training on the vision of adults with bilateral deprivation amblyopia.

    Science.gov (United States)

    Jeon, Seong Taek; Maurer, Daphne; Lewis, Terri L

    2012-01-01

    Amblyopia is a condition involving reduced acuity caused by abnormal visual input during a critical period beginning shortly after birth. Amblyopia is typically considered to be irreversible during adulthood. Here we provide the first demonstration that video game training can improve at least some aspects of the vision of adults with bilateral deprivation amblyopia caused by a history of bilateral congenital cataracts. Specifically, after 40 h of training over one month with an action video game, most patients showed improvement in one or both eyes on a wide variety of tasks including acuity, spatial contrast sensitivity, and sensitivity to global motion. As well, there was evidence of improvement in at least some patients for temporal contrast sensitivity, single letter acuity, crowding, and feature spacing in faces, but not for useful field of view. The results indicate that, long after the end of the critical period for damage, there is enough residual plasticity in the adult visual system to effect improvements, even in cases of deep amblyopia caused by early bilateral deprivation.

  9. Possible rare congenital dysinnervation disorder: congenital ptosis associated with adduction.

    Science.gov (United States)

    Mendes, Sílvia; Beselga, Diana; Campos, Sónia; Neves, Arminda; Campos, Joana; Carvalho, Sílvia; Silva, Eduardo; Castro Sousa, João Paulo

    2015-01-01

    Ptosis is defined as an abnormally low position of the upper eyelid margin. It can be congenital or acquired, uni or bilateral, and isolated or associated with other ocular and nonocular defects. We report a case of a female child, aged 8 years, with congenital right ptosis increased on right adduction and with left ptosis on left adduction. There was no horizontal ocular movement limitation. Apparent underaction of the right inferior oblique muscle was also present. We believe that within the possible mechanisms it is more likely that it is a congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorder (CCDD).

  10. Fear of falling and associated factors in community elderly with cataracts

    OpenAIRE

    Cascalho, Lorena de Andrade; Paz, Leonardo Petrus da Silva; Romão, Juliana de Faria Fracon e; Menezes, Ruth Losada de

    2016-01-01

    ABSTRACT Objective: To investigate prevalence of the fear of falling of elderly with cataracts living in the community and the associated factors with high concern with falling occurrences. Methods: A cross-sectional, analytical and observational study. It was composed by 86 elderly diagnosed with bilateral cataracts. To quantify the fear of falling among elderly, the scale Falls Efficacy Scale-International-Brasil (FES-I-BRASIL) was used. Other variables were obtained through application o...

  11. Phacoemulsification in subluxated cataract.

    Directory of Open Access Journals (Sweden)

    Praveen M

    2003-01-01

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

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

    African Journals Online (AJOL)

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

  13. Bilateral diffuse uveal melanocytic proliferation

    DEFF Research Database (Denmark)

    Klemp, Kristian; Kiilgaard, Jens Folke; Heegaard, Steffen

    2017-01-01

    Bilateral diffuse uveal melanocytic proliferation (BDUMP) is a rare paraneoplastic intraocular disease that causes progressive visual loss in patients driven by an IgG factor associated with an underlying malignancy. Characteristic ocular findings include exudative retinal detachment, rapid...... cataract formation and uveal melanocytic tumours. The awareness and documentation of BDUMP has increased during the past decade, and the increasing amount of data collected demonstrates the effect of treatment with plasmapheresis and the value of diagnostic tools in BDUMP such as genetic and immunologic...

  14. Cataract and ionizing radiation

    International Nuclear Information System (INIS)

    The radiation-induced cataract has been up to now considered as a quite rare pathology, needing high-dose radiations (beyond a dose threshold roughly estimated at 2 Grays to the lens) consisting mainly in head tumour radiotherapy complications. Several new studies on different exposed populations such as astronauts, japanese atomic bomb survivors, people undergoing X-ray examinations, Chernobyl accident 'liquidators' as well as data from animal experiments, suggest that dose threshold for detectable opacities as well as for clinical posterior sub-capsular cataract occurring, might be far lower than those previously assumed. Even the existence of a dose threshold is no longer an absolute certitude insofar as radiation-induced cataract pathogenesis might consist not really in a deterministic effect (direct tissue harmful effect, killing or seriously injuring a critical population of cells) as believed until now, but rather in a stochastic effect (genomic damage in target-cells, altered cell division, abnormal lens fiber cell differentiation). More practically, these new data may lead us to reconsider radioprotection of specifically exposed populations: mainly patients and workers. Regarding workers, labour legislation (lens equivalent dose limit of 150 mSv during 12 consecutive months) might be, in the medium term, reassessed downwards. (author)

  15. Seasonality of congenital anomalies in Europe

    DEFF Research Database (Denmark)

    Luteijn, Johannes Michiel; Dolk, Helen; Addor, Marie-Claude

    2014-01-01

    seasonality of 65,764 nonchromosomal and 12,682 chromosomal congenital anomalies covering 3.3 million births. Analysis was performed by estimated month of conception. Analyses were performed for 86 congenital anomaly subgroups, including a combined subgroup of congenital anomalies previously associated......%), congenital hydronephrosis (July, 12%), urinary defects (July, 5%), and situs inversus (December, 36%), but not for nonchromosomal anomalies combined, chromosomal anomalies combined, or other anomalies analyzed. CONCLUSION: We have confirmed previously described seasonality for congenital cataract and hip......BACKGROUND: This study describes seasonality of congenital anomalies in Europe to provide a baseline against which to assess the impact of specific time varying exposures such as the H1N1 pandemic influenza, and to provide a comprehensive and recent picture of seasonality and its possible relation...

  16. Electrical cataract and optic neuropathy.

    Science.gov (United States)

    Biro, Z; Pamer, Z

    1994-01-01

    We report on a 20 year old male, who developed mature cataract (Electrical Cataract) on both eyes after a severe electric shock from high voltage. Both of his hands and the left foot had to be amputated, because of the severe injury. Although electrical cataract due to high voltage or lightning is rare, they may still occur after industrial or home electric accidents. Even if extracapsular cataract extraction with intraocular lens implantation is successfully performed, the final visual acuity will depend on other ocular damage due to the electric current.

  17. A novel mutation in CRYAA is associated with autosomal dominant suture cataracts in a Chinese family.

    Science.gov (United States)

    Su, Dongmei; Guo, Yuanyuan; Li, Qian; Guan, Lina; Zhu, Siquan; Ma, Xu

    2012-01-01

    To identify the genetic defect in a three-generation Chinese family with congenital cataracts. The phenotype of a three-generation Chinese family with congenital cataracts was recruited. Detailed family history and clinical data of the family were recorded. Candidate gene sequencing was performed to screen out the disease-causing mutation. Bioinformatics analysis was performed to predict the function of the mutant gene. The phenotype of the family was identified as Y-suture cataract by using slit-lamp photography. Direct sequencing revealed a c.161G>C transversion in exon 1 of crystallin, alpha A (CRYAA). This mutation cosegregated with all affected individuals in the family and was not found in unaffected family members or in the 100 unrelated controls. Bioinformatics analysis indicated that the 54th amino acid position was highly conserved and the mutation R54P caused an increase in local hydrophobicity around the substitution site. This study identified a novel disease-causing mutation c.161G>C (p.R54P) in CRYAA in a Chinese family with autosomal dominant Y-suture cataracts. This is the first report relating a G→C mutation in CRYAA leading to congenital Y-suture cataract.

  18. The prevalence and causes of bilateral and unilateral blindness in an elderly urban Danish population. The Copenhagen City Eye Study

    DEFF Research Database (Denmark)

    Buch, Helena; Vinding, T; La Cour, M

    2001-01-01

    of bilateral blindness, accounting for 60% of all blind persons. Glaucoma, myopic macular degeneration, cataract and retinitis pigmentosa were jointly the second most common cause, each accounting for 10% of all bilaterally blind persons. Diabetic retinopathy was not a cause of bilateral blindness. Amblyopia...

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

    Directory of Open Access Journals (Sweden)

    Pradeep Krishnatray

    2006-09-01

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

  20. Bilateral dacryoadenitis

    Directory of Open Access Journals (Sweden)

    Charlotte Derr

    2012-01-01

    Full Text Available Acute dacryoadenitis is an uncommon condition that involves inflammation of the lacrimal gland. In rare instances, dacryoadenitis may be bilateral. A delay in proper treatment of an otherwise simple case of dacryoadenitis may lead to significant soft tissue morbidity such as cellulitis, lacrimal gland abscess, or orbital abscess. We report the case of a 24-year-old male who presented to the emergency department with acute bilateral dacryoadenitis. The patient′s symptoms did not respond to oral antibiotics and he subsequently required admission for intravenous antibiotics. During his hospitalization the patient had diagnostic testing to try to determine the etiology for his symptoms. The unique aspects of managing a case of bilateral dacryoadenitis as well as treatment recommendations are discussed in this case report.

  1. The morphology and natural history of childhood cataracts.

    Science.gov (United States)

    Amaya, Luis; Taylor, David; Russell-Eggitt, Isabelle; Nischal, Ken K; Lengyel, Dora

    2003-01-01

    The morphology of congenital cataract reflects a combination of the timing and nature of the cause, the anatomy of the lens including its capsule, its development, and changes that take place with time. Morphology may variably affect prognosis, give a clue to the etiology and the age of onset and, in an isolated case, sometimes suggest heritability. The spectrum of morphological variations is enormous and can be complex. A comprehensive approach is to classify the variations according to the area of the lens involved, and sub-dividing them by a detailed description of the shape and appearance. Each specific morphological type is then analyzed determining the etiology, visual prognosis, and management. The use of gene markers has allowed many of these variations to be identified and categorized. Cataracts in childhood can involve the whole lens, in which case they are called total, Morgagnian, or disk-like. They can affect only the center of the lens: lamellar, nuclear, oil droplet, cortical, or coronary. They can be anterior: anterior polar, anterior subcapsular, or anterior lenticonus. The posterior aspect of the lens can also be affected in different fashions: Mittendorf's dot, posterior lenticonus, posterior cortical cataracts, or posterior subcapsular. There are five more forms that must be described separately: punctuate lens opacities, sutural cataracts, coralliform or crystalline, wedge-shaped, and persistent hyperplastic primary vitreous.

  2. Mobile femtosecond laser platform for pediatric cataract surgery.

    Science.gov (United States)

    Fung, Simon S M; Brookes, John; Wilkins, Mark R; Adams, Gillian G W

    2017-10-26

    To describe the use of a mobile femtosecond laser platform in assisting paediatric cataract surgery. A mobile femtosecond laser was brought into the operating room and calibrated on the day of the surgery. After general anesthesia is induced, the femtosecond laser was docked onto the eyes with a liquid-filled interface, without any perioperative adaptations or additional surgical procedures. An anterior capsulotomy was created with the femtosecond laser, followed by conventional cataract extraction and intraocular lens implantation. Five eyes of 3 children with congenital cataracts were treated with this technique. Docking and capsulorhexis were successful in all cases. No perioperative or intraoperative complications were noted in any of the cases. At median follow-up of 15 months (range 6-18 months), all patients had improved best-corrected visual acuity. Using the mobile femtosecond laser platform, a perfectly sized anterior capsulotomy could be created with high precision and accuracy in paediatric cataract cases, while ensuring that perioperative care for the children undergoing the procedure was not compromised.

  3. INTRACORNEAL AND SCLERAL CYST FOLLOWING CATARACT EXTRACTION

    Directory of Open Access Journals (Sweden)

    Gabriel van Rij

    2002-12-01

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

  4. Association between visual impairment and patient-reported visual disability at different stages of cataract surgery.

    Science.gov (United States)

    Acosta-Rojas, E Ruthy; Comas, Mercè; Sala, Maria; Castells, Xavier

    2006-10-01

    To evaluate the association between visual impairment (visual acuity, contrast sensitivity, stereopsis) and patient-reported visual disability at different stages of cataract surgery. A cohort of 104 patients aged 60 years and over with bilateral cataract was assessed preoperatively, after first-eye surgery (monocular pseudophakia) and after second-eye surgery (binocular pseudophakia). Partial correlation coefficients (PCC) and linear regression models were calculated. In patients with bilateral cataracts, visual disability was associated with visual acuity (PCC = -0.30) and, to a lesser extent, with contrast sensitivity (PCC = 0.16) and stereopsis (PCC = -0.09). In monocular and binocular pseudophakia, visual disability was more strongly associated with stereopsis (PCC = -0.26 monocular and -0.51 binocular) and contrast sensitivity (PCC = 0.18 monocular and 0.34 binocular) than with visual acuity (PCC = -0.18 monocular and -0.18 binocular). Visual acuity, contrast sensitivity and stereopsis accounted for between 17% and 42% of variance in visual disability. The association of visual impairment with patient-reported visual disability differed at each stage of cataract surgery. Measuring other forms of visual impairment independently from visual acuity, such as contrast sensitivity or stereopsis, could be important in evaluating both needs and outcomes in cataract surgery. More comprehensive assessment of the impact of cataract on patients should include measurement of both visual impairment and visual disability.

  5. Retinal detachment repair and cataract surgery in patients with atopic dermatitis.

    Science.gov (United States)

    Gnana Jothi, V; McGimpsey, S; Sharkey, J A; Chan, W C

    2017-09-01

    PurposeThe aim of this study is to report a case series of ocular complications including retinal detachment (RD) and cataract in atopic dermatitis (AD) and surgical management involving a majority of Caucasian patients.Patients and methodsThis study is an observational case series, originally designed as an audit. It involves detailed discussion of history, clinical features, and surgical management of patients presenting with retinal detachment and cataracts secondary to severe AD. Six consecutive patients with diagnosis of severe AD requiring posterior segment and cataract surgery were included in the study.ResultsEight eyes of six patients had retinal detachment. Most of them involved the temporal retina. The retinal breaks were located anteriorly close to the ora serrata in six eyes and Giant tear retinal (GRT) detachment was found in two eyes. Five eyes had proliferative vitreo-retinopathy (PVR) at presentation. All six patients had bilateral cataracts and cataract surgery was performed in eleven eyes. Bilateral simultaneous surgery was essential in two patients. Three eyes had secondary intra-ocular lens (IOL) implantation with pars plana vitrectomy for subluxed lens implant.ConclusionsAnterior retinal breaks and temporal RD are common in retinal detachment secondary to AD. PVR is often present, which makes surgical management difficult. Cataract formation is quite often and late subluxation of IOL may occur.

  6. Clinical genetics and gene mapping studies on a family in the area of northeast with hereditary cataract

    Directory of Open Access Journals (Sweden)

    Tian-Xiao Zhang

    2013-06-01

    Full Text Available AIM: To map the causal gene of congenital nuclear cataract in a family in the area of northeast.METHODS: We investigated there generations of a Chinese family affected with hereditary cataract. Peripheral blood samples were collected from all of the family members, and genomic DNA was then extracted from the blood samples. Linkage analysis was performed using 62microsatellite markers. Two-point LOD scores(Zwere calculated using the LINKAGE programs(ver. 5.2. Haplotypes were constructed according to the allele information.RESULTS: The affected members in this family showed classic phenotype of autosomal dominant congenital cataract. The maximum two-point LOD score of 2.71 was obtained for marker D22S689(θ = 0. Haplotype analysis traced the disease gene on chromosome 22q11.2-12.1, containing CRYBB1, CRYBB2, CRYBB3, CRYBA4 genes. CONCLUSION: The occurrence of congenital nuclear cataract consistents with the autosomal dominant inherited regular, and the causal gene of congenital nuclear cataract localize at 22q11.2-12.1 in this family.

  7. Bilateral cerebellopontine arachnoid cyst: A rare entity.

    Science.gov (United States)

    Sharma, Anand; Sharma, Achal; Mittal, Radhey S; Gandhi, Ashok

    2015-01-01

    Bilateral cerebellopontine angle (CPA) arachnoid cysts (ACs) are very rare: only one case is reported in literature. Pathogenesis of those cysts is unknown; they are thought to be congenital. The presenting symptoms of CPA AC are frequently nonspecific or otological. The management of ACs of the CPA is controversial. We are reporting two cases of bilateral CPA AC with their pathophysiology and review of literature.

  8. Cirurgia da catarata infantil unilateral Unilateral pediatric cataract surgery

    Directory of Open Access Journals (Sweden)

    Adriana Maria Drummond Brandão

    2008-04-01

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

  9. Mild toxic anterior segment syndrome mimicking delayed onset toxic anterior segment syndrome after cataract surgery

    Directory of Open Access Journals (Sweden)

    Su-Na Lee

    2014-01-01

    Full Text Available Toxic anterior segment syndrome (TASS is an acute sterile postoperative anterior segment inflammation that may occur after anterior segment surgery. I report herein a case that developed mild TASS in one eye after bilateral uneventful cataract surgery, which was masked during early postoperative period under steroid eye drop and mimicking delayed onset TASS after switching to weaker steroid eye drop.

  10. Short Communication: Management problems of multiple congenital ...

    African Journals Online (AJOL)

    Here we present an 8 weeks old baby with - Spina bifida cystica - Bilateral talipes equninovarus - Bilateral undescended testes and inguino scrotal hernia. Key Words: Multiple, Congenital, Anomalies, Management, Problems Tropical Journal of Medical Research Vol.8(1) 2004: 24-25 ...

  11. Bilateral agreements

    International Nuclear Information System (INIS)

    Anon.

    2004-01-01

    The bilateral agreements concern Brazil with United States relative to the co operation in nuclear energy, Germany with Russian Federation relative to the elimination and disposal of nuclear weapons; The multilateral agreements concerns the signature of the Protocols to amend the Paris and Brussels Conventions, the multilateral nuclear environmental programme in the Russian Federation, the status of Conventions in the field of nuclear energy. (N.C.)

  12. Prevalence, Risk Factors, and Impact of Undiagnosed Visually Significant Cataract: The Singapore Epidemiology of Eye Diseases Study.

    Science.gov (United States)

    Chua, Jacqueline; Lim, Blanche; Fenwick, Eva K; Gan, Alfred Tau Liang; Tan, Ava Grace; Lamoureux, Ecosse; Mitchell, Paul; Wang, Jie Jin; Wong, Tien Yin; Cheng, Ching-Yu

    2017-01-01

    To determine the prevalence, risk factors, and impact of undiagnosed visually significant cataract in an Asian population. The Singapore Epidemiology of Eye Diseases is a population-based study where 8,697 adults of Malay, Indian, and Chinese ethnicities aged > 40 years were invited for an eye examination, including lens photograph, to establish cataract diagnosis. Visually significant cataract was defined by Wisconsin Cataract Grading System and a best-corrected visual acuity educational attainment, in employment, and without a history of diabetes (all P<0.05). In those with undiagnosed visually significant cataract, half had bilateral visual impairment, which was significantly associated with 24.8% poorer visual functioning compared to those with unilateral visual impairment (P<0.001). Two-thirds of Singaporean adults with visually significant cataract were previously undiagnosed. Half of these cases had bilateral visual impairment and substantially reduced quality of life. Public health strategies targeting elderly patients, such as regular screening for visual impairment and timely referral to ophthalmologists in order to prevent progression to bilateral visual impairment when visual function is compromised are warranted.

  13. Mutations in CFTR gene and clinical correlation in Argentine patients with congenital bilateral absence of the vas deferens Correlación de las características clínicas con mutaciones del gen CFTR en pacientes argentinos con ausencia bilateral congénita de vasos deferentes

    Directory of Open Access Journals (Sweden)

    Estrella M Levy

    2004-06-01

    Full Text Available Congenital bilateral absence of the vas deferens (CBAVD is a form of male infertility in which mutations in the cystic fibrosis transmembrane conductance regulator (CFTR gene have been identified. Here we identify different mutations of CFTR and the poly-T variant of intron 8 (IVS8 in Argentine patients and analyze sweat test values and clinical characteristic related to Cystic Fibrosis (CF. For counseling purposes the two most frequent mutations in Argentine CF population: DF508 and G542X were screened in wives. In all cases, it was possible to reduce the risk of CF/CBAVD descendants in these couples because none of the mutation were found in the 36 samples. Eight patients (23% showed abnormal chloride values (> 60 mmol/l. A second group of 6 patients (18% had borderline values of sweat chloride (40-59 mmol/l. We defined another group with 6 patients (18%, with normal sweat chloride levels (30-39 mmo/l and a fourth group of 14 (41% patients with sweat chloride below 30 mmol/l. DF508, the most frequent CF mutation in the Argentine population, was found on 15 of the 72 chromosomes (21%, R117H mutation was detected on 2 of 62 chromosomes (3%. Only one R347P allele was found on 28 chromosomes analyzed (2%. On a sample of 27 patients, IVS8 analysis showed a frequency of 6/56 chromosomes (11% of 5T allele. Even though these findings present an improvement in the detection of mutations related to clinical correlations in Argentine CBAVD population, the search for other common and uncommon mutations should be continued.La ausencia bilateral congénita de vasos deferentes (CBAVD es una forma de infertilidad masculina en la que se han identificado mutaciones en el gen de la conductancia transmembrana de la fibrosis quística (CFTR. Hemos estudiado en pacientes argentinos diferentes mutaciones en el CFTR y la variante poli T del intron 8 (IVS8 y analizado los valores de test del sudor y las características clínicas relacionadas a la Fibrosis Qu

  14. Congenital toxoplasmosis

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001360.htm Congenital toxoplasmosis To use the sharing features on this page, please enable JavaScript. Congenital toxoplasmosis is a group of symptoms that occur when ...

  15. Congenital Hypothyroidism

    Science.gov (United States)

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

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

    Science.gov (United States)

    ... Cataract Surgery vs. Laser-Assisted Cataract Surgery Cataract Vision Simulator Cataract Pictures and Videos: What Do ... Mar. 27, 2018 An intraocular lens (or IOL) is a tiny, artificial lens for the eye. It replaces the eye's ...

  17. Cochlear implantation in a bilateral Mondini dysplasia.

    Science.gov (United States)

    Turrini, M; Orzan, E; Gabana, M; Genovese, E; Arslan, E; Fisch, U

    1997-01-01

    We report the speech perception progress and programming procedures of a case of congenital profound deafness and bilateral Mondini dysplasia implanted with a Nucleus 20 + 2 cochlear implant at the age of six. Unclear relations between electrodes array and cochlear partition made implant programming difficult and non-standard procedures were set. Cochlear implantation may give excellent rehabilitative results also in cochleae with malformation.

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

    Science.gov (United States)

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

    2018-01-01

    Normal development of the visual system in infants relies on clear images being projected onto the retina, which can be disrupted by lens opacity caused by congenital cataract. This disruption, if uncorrected in early life, results in amblyopia (permanently decreased vision even after removal of the cataract). Doctors are able to prevent amblyopia by removing the cataract during the first several weeks of life, but this surgery risks a host of complications, which can be equally visually disabling. Here, we investigated the feasibility of focusing light noninvasively through highly scattering cataractous lenses to stimulate the retina, thereby preventing amblyopia. This approach would allow the cataractous lens removal surgery to be delayed and hence greatly reduce the risk of complications from early surgery. Employing a wavefront shaping technique named time-reversed ultrasonically encoded optical focusing in reflection mode, we focused 532-nm light through a highly scattering ex vivo adult human cataractous lens. This work demonstrates a potential clinical application of wavefront shaping techniques. (2018) COPYRIGHT Society of Photo-Optical Instrumentation Engineers (SPIE).

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

    Science.gov (United States)

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

    2018-01-01

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

  20. Bilateral multicystic dysplastic kidneys: Case report | Adeniji | East ...

    African Journals Online (AJOL)

    Multicystic dysplastic kidney (MCDK) is a congenital, non-heritable maldevelopment in which the renal cortex is replaced by numerous cysts of varying sizes. Typically, MCDK is a unilateral disorder in 76% of cases and bilateral in 24%. The latter is incompatible with life. We present the case of a male child with bilateral ...

  1. Blindness, cataract surgery and mortality in Ethiopia.

    Science.gov (United States)

    Thomas, Benjamin J; Sanders, David S; Oliva, Matthew S; Orrs, Mark S; Glick, Peter; Ruit, Sanduk; Chen, Wei; Luoto, Jill; Tasfaw, Alemu Kerie; Tabin, Geoffrey C

    2016-09-01

    To examine the relationships between blindness, the intervention of cataract surgery and all-cause mortality in a rural Ethiopian population. Population-based, interventional prospective study. Community-based detection methods identified blind Ethiopian persons from two selected kebeles in Amhara region, Ethiopia. Data from 1201 blind patients were collected-628 cataract-blind and 573 blind from other conditions. Free cataract surgery was provided for consenting, cataract-blind patients. Follow-up surveys were conducted after 12 months (±1 month)-the main outcome measure for this report is all-cause mortality at 1 year. During the follow-up period, 110 persons died from the selected population (mortality 9.2%), which consisted of those cataract-blind patients who received cataract surgery (N=461), cataract-blind patients who did not receive surgery (N=167) and all non-cataract-blind patients (N=573). Of the 461 patients who received cataract surgery, 44 patients died (9.5%). Of the 740 patients who did not receive surgery, 66 died (8.9%)-28 patients from the cohort of cataract-blind patients who did not receive surgery (16.8%) and 38 patients from the cohort of non-cataract blind (6.6%). Subgroup analysis revealed significantly increased odds of mortality for cataract-blind patients over 75 years of age who did not receive surgery and for unmarried patients of all age groups. In this population, mortality risk was significantly elevated for older cataract-blind patients when compared with non-cataract-blind patients-an elevation of risk that was not noted in an age-matched cohort of cataract-blind patients who underwent cataract surgery as early as 1-year follow-up. 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/

  2. Advances in hard nucleus cataract surgery

    Directory of Open Access Journals (Sweden)

    Wei Cui

    2013-11-01

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

  3. Foldable toric intraocular lens for astigmatism correction in cataract patients.

    Science.gov (United States)

    Mendicute, Javier; Irigoyen, Cristina; Aramberri, Jaime; Ondarra, Ana; Montés-Micó, Robert

    2008-04-01

    To evaluate the results of AcrySof toric intraocular lens (IOL) (Alcon) implantation to correct preexisting astigmatism in patients having cataract surgery. Ophthalmology Service, Donostia Hospital, San Sebastián, Spain. This prospective observational study included 30 eyes of 15 consecutive patients with more than 1.00 diopter (D) of preexisting corneal astigmatism having cataract surgery. Bilateral implantation of the AcrySof toric IOL was performed after phacoemulsification. The uncorrected visual acuity (UCVA), best corrected visual acuity (BCVA), residual refractive sphere, residual keratometric and refractive cylinders, and toric IOL axis were measured. The UCVA was 20/40 or better in 93.3% of eyes and 20/25 or better in 66.6%. All eyes achieved 20/25 or better BCVA. The mean refractive cylinder decreased significantly after surgery from -2.34 D +/- 1.28 (SD) to -0.72 +/- 0.43 D (P<.01). Vector analysis of attempted versus achieved correction showed that 100% of eyes were within +/-1.00 D and 80% and 93.9% were within +/-0.50 D for J(0) and J(45), respectively. The mean toric IOL axis rotation was 3.63 +/- 3.11 degrees, with rotation less than 10 degrees in 96.7% of eyes. The results indicate that phacoemulsification and posterior chamber AcrySof toric IOL implantation is an effective option to correct preexisting astigmatism in cataract surgery. The AcrySof toric IOL showed good rotational stability.

  4. Change in vision, visual disability, and health after cataract surgery.

    Science.gov (United States)

    Helbostad, Jorunn L; Oedegaard, Maria; Lamb, Sarah E; Delbaere, Kim; Lord, Stephen R; Sletvold, Olav

    2013-04-01

    Cataract surgery improves vision and visual functioning; the effect on general health is not established. We investigated if vision, visual functioning, and general health follow the same trajectory of change the year after cataract surgery and if changes in vision explain changes in visual disability and general health. One-hundred forty-eight persons, with a mean (SD) age of 78.9 (5.0) years (70% bilateral surgery), were assessed before and 6 weeks and 12 months after surgery. Visual disability and general health were assessed by the CatQuest-9SF and the Short Formular-36. Corrected binocular visual acuity, visual field, stereo acuity, and contrast vision improved (P visual acuity evident up to 12 months (P = 0.034). Cataract surgery had an effect on visual disability 1 year later (P visual disability and general health 6 weeks after surgery. Vision improved and visual disability decreased in the year after surgery, whereas changes in general health and visual functioning were short-term effects. Lack of associations between changes in vision and self-reported disability and general health suggests that the degree of vision changes and self-reported health do not have a linear relationship.

  5. Bilateral agreements

    International Nuclear Information System (INIS)

    1998-01-01

    Ten bilateral agreements are presented. These are: 1) Co-operation agreement relating to the peaceful uses of nuclear energy between Argentina and EURATOM (1996); 2) Agreement on co-operation in the peaceful uses of nuclear energy between Argentina and Greece (1997); 3) Implementing arrangement for technical exchange and co-operation in the area of peaceful uses of nuclear energy between Argentina and the United States (1997); 4) Agreement concerning co-operation in nuclear science and technology between Australia and Indonesia (1997); 5) Implementation of the 1985 Agreement for co-operation concerning the peaceful uses of nuclear energy between the People's Republic of China and the United States (1998); 6) Protocol of co-operation between France and Lithuania (1997); 7) Agreement on co-operation in energy research, science and technology, and development between Germany and the United States (1998); 8) Agreement on early notification of a nuclear accident and exchange of information on nuclear facilities between Greece and Romania (1997); 9) Agreement on early notification of nuclear accidents and co-operation in the field of nuclear safety between Hungary and the Ukraine (1997); 10) Agreement in the field of radioactive waste management between Switzerland and the United States (1997). (K.A.)

  6. Simulation-based certification for cataract surgery

    DEFF Research Database (Denmark)

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

    2015-01-01

    PURPOSE: To evaluate the EyeSi(™) simulator in regard to assessing competence in cataract surgery. The primary objective was to explore all simulator metrics to establish a proficiency-based test with solid evidence. The secondary objective was to evaluate whether the skill assessment was specific...... to cataract surgery. METHODS: We included 26 ophthalmic trainees (no cataract surgery experience), 11 experienced cataract surgeons (>4000 cataract procedures) and five vitreoretinal surgeons. All subjects completed 13 different modules twice. Simulator metrics were used for the assessments. RESULTS: Total...

  7. Pediatric cataract surgery in Madagascar

    African Journals Online (AJOL)

    2013-03-28

    the‑world‑factbook/geos/ma.html. [Cited 2010 Oct 31]. 11. Nkumbe HE, Randrianotahina HC. Meeting the need for childhood cataract surgical services in Madagascar. Afr J Paediatr Surg 2011;8:182‑4. 12. Muhit MA. Childhood ...

  8. The Pediatric Cataract Register (PECARE)

    DEFF Research Database (Denmark)

    Haargaard, Birgitte; Nyström, Alf; Rosensvärd, Annika

    2015-01-01

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

  9. Strabismus and Nystagmus Following Cataract Surgeries in Childhood

    Directory of Open Access Journals (Sweden)

    Ayşe Yeşim Oral

    2012-03-01

    Full Text Available Pur po se: To evaluate the incidence of strabismus in pediatric cataracts and the effects of strabismus and nystagmus accompanied by cataract on postoperative visual acuity. Ma te ri als and Met hod: Seventy-four eyes of 45 patients under 15 years old who had undergone cataract operation were included in this study. The mean postoperative follow-up period was 1.57±2.25 years (ranged between 3 months and 9 years. Twenty-nine of the patients (64% had bilateral and 16 of the patients (36% had unilateral cataract. Preoperative and postoperative visual acuities, as well as the presence of nystagmus and strabismus were recorded. Re sults: Seventeen of the patients (38% had strabismus: 9 of them (53% had esotropia (ET, and 8 of them had (47% exotropia (XT. Fourteen (19% of the total number of cases had nystagmus. The mean age was 5.8±4.4 years for the total group of patients, 4.6±3.0 years for patients with strabismus and 5.1±3.7 years for patients with nystagmus. Visual acuity measurements were not possible in 26 uncooperative patients. The visual acuity was 0.3 logMAR and over in 15 (31% and 1.0 logMAR and under in 12 (25% of the remaining of 48 eyes. Of a total of 28 eyes with strabismus, we were unable to measure visual acuity in 10 patients, and the visual acuities were 0.3 logMAR and over in 7 (39% and 1.0 logMAR and under in 5 (28% of the rest of the 18 patients. The mean visual acuity was significantly lower in the 8 of 14 patients with nystagmus whose visual acuity could be measured (1.25±0.45 logMAR than in both the patients without strabismus (0.44±0.59 logMAR and the patients with strabismus (0.66±0.56 logMAR (p=0.019 and p=0.015, respectively. Dis cus si on: Although strabismus is seen more often in childhood cataracts compared to general population, the presence of strabismus has no negative effect on visual acuity after cataract surgery, while nystagmus is the main factor limiting the visual outcome. (Turk J Ophthalmol 2012; 42

  10. Bilateral Coordination of Children who are Blind.

    Science.gov (United States)

    Rutkowska, Izabela; Lieberman, Lauren J; Bednarczuk, Grzegorz; Molik, Bartosz; Kazimierska-Kowalewska, Kalina; Marszałek, Jolanta; Gómez-Ruano, Miguel-Ángel

    2016-04-01

    The purpose of this study was to evaluate the bilateral coordination in children and adolescents with visual impairments aged 7 to 18 years in comparison to their sighted peers. An additional objective was to identify the influence of sex and age on bilateral coordination. Seventy-five individuals with congenital severe visual impairment (40 girls and 35 boys) comprised the visually impaired group. The Sighted group comprised 139 youth without visual impairment. Subtest 4 of the Bruininks-Oseretsky Test of Motor Proficiency was administered to test bilateral coordination. To analyze the effect of the independent variables in the results obtained in the Subtest 4, four linear regression models were applied according to group and sex. The results indicated that severe visual impairment and lack of visual sensation had a negative effect on the development of participants' bilateral coordination, which however did not depend on sex or age. © The Author(s) 2016.

  11. Congenital cataract screening in maternity wards is effective

    DEFF Research Database (Denmark)

    Magnusson, Gunilla; Bizjajeva, Svetlana; Haargaard, Birgitte

    2013-01-01

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

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

    Science.gov (United States)

    ... and have reduced bone density. A complication called rhabdomyolysis occurs in some people with CCFDN , typically following ... or, in rare cases, during or after surgery. Rhabdomyolysis is a breakdown of muscle tissue that results ...

  13. (V44M) impairs gap junction function causing congenital cataract

    Indian Academy of Sciences (India)

    LIJUAN CHEN

    2017-12-20

    Dec 20, 2017 ... Hela cells transfected with wt-Cx46 and Cx46 V44M were plated on 35 mm dishes to reach over 95% confluency. The medium was changed to HBSS plus the fluorescent dye Alexa Fluor 350 (Thermo Fisher Scientific, Waltham,. USA), and a scalpel blade was used to make many paral- lel lines on the dish.

  14. Automated refraction is stable 1 week after uncomplicated cataract surgery

    DEFF Research Database (Denmark)

    Ostri, Christoffer; Holfort, Stig K; Fich, Marianne S

    2018-01-01

    PURPOSE: To compare automated refraction 1 week and 1 month after uncomplicated cataract surgery. METHODS: In this prospective cohort study, we recruited patients in a 2-month period and included consecutive patients scheduled for bilateral small-incision phacoemulsification cataract surgery....... The exclusion criteria were (i) corneal and/or retinal pathology that could lead to automated refraction miscalculation and (ii) surgery complications. Automated refraction was measured 1 week and 1 month after surgery. RESULTS: Ninety-five patients met the in- and exclusion criteria and completed follow......-test). CONCLUSION: Automated refraction is stabile 1 week after uncomplicated cataract surgery, but there is a trend towards instability, if the refractive target is missed with 1.0 D or more....

  15. Congenital tuberculosis

    African Journals Online (AJOL)

    Prof Ezechukwu

    2012-06-20

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

  16. Congenital Myopathy

    Science.gov (United States)

    ... results in weakness. Congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. Typically, an infant with a congenital myopathy will be "floppy," have difficulty breathing or feeding, and will lag behind other babies in meeting ...

  17. Congenital Myasthenia

    Science.gov (United States)

    ... Symptoms of congenital myasthenia usually appear in the first few years of childhood, but may not be noticeable until much later, ... Symptoms of congenital myasthenia usually appear in the first few years of childhood, but may not be noticeable until much later, ...

  18. Congenital ganglioglioma.

    Science.gov (United States)

    Karthikeyan, Gengaimuthu; Subburam, Paiyanan; Ravishankar, Soundian Soundian

    2002-03-01

    Congenital neoplasms of brain presenting at birth are extremely uncommon. We report a case of congenital ganglioglioma presenting at birth with hydrocephalus. Ventriculoperitoneal shunt and surgical debulking of the tumour along with histopathological confirmation were done at 6 months of age. On follow-up at 18 months, the child's hydrocephalus is static and his assessed developmental age is 10-12 months.

  19. [2 cases of congenital humero-radial synostosis].

    Science.gov (United States)

    Sólyom, L

    1978-01-01

    Two cases of a rare congenital deformity, humeroradial aplasia are reported in the article. In the first case the deformity was unilateral, in the second case a bilateral aplasia was associated to hip dislocation and aplasia of the os ischii.

  20. Bilateral Acute Angle-closure after Intraocular Surgery.

    Science.gov (United States)

    Hoskens, Kirsten; Pinto, Luis Abegão; Vandewalle, Evelien; Verdonk, Nancy; Stalmans, Ingeborg

    2014-01-01

    We report the case of a 75-year-old woman who developed an acute bilateral angle-closure associated with choroidal effusion a day after an uneventful cataract surgery. The same patient had undergone a similarly uneventful cataract surgery two weeks before, under the same protocol, with no postoperative complication in the other eye. Medical treatment, including the use of oral sulfamide-related drugs (acetazolamide), topical beta-blockers and steroids led to a gradual decrease in intraocular pressure (IOP) and choroidal effusion. Despite initial reports suggesting a link between sulfamide-exposure and these rare forms of angle-closure, our report would suggest a more complex pathophysiology behind this intriguing phenomenon. How to cite this article: Hoskens K, Pinto LA, Vandewalle E, Verdonk N, Stalmans I. Bilateral Acute Angle-closure after Intraocular Surgery. J Curr Glaucoma Pract 2014;8(3):113-114.

  1. Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene.

    Science.gov (United States)

    Titah, Salah Mohamed Cherif; Meunier, Isabelle; Blanchet, Catherine; Lopez, Severine; Rondouin, Gerard; Lenaers, Guy; Amati-Bonneau, Patrizia; Reynier, Pascal; Paquis-Flucklinger, Veronique; Hamel, Christian P

    2012-01-01

    Wolfram syndrome (WS) or diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD) (OMIM 222300) is an inherited neurodegenerative disease characterized by diabetes mellitus and optic atrophy as the 2 major criteria, followed later in life by deafness, diabetes insipidus, and various signs of neurologic impairment. The presence of a cataract has been variably mentioned in WS. Two members of a family had thorough ophthalmic examination and their DNA was screened for mutations in mitochondrial DNA, WFS1, OPA1, and OPA3 genes. We report a patient who first had surgery for bilateral cataract at age 5 and who subsequently presented typical signs of WS, i.e., diabetes mellitus, optic atrophy with reduced visual acuity at 20/400 on both eyes at age 22, and mild deafness. The patient was found to be a compound heterozygote for 2 truncating mutations in WFS1, the major WS gene. She carried the previously reported c.1231_1233 delCT and a novel c.2431_2465dup35 mutation. She also was heterozygote for a novel OPA1 sequence variant, c.929A>G in exon 9, whose pathogenicity remains uncertain. The patient's mother was a heterozygous carrier of the c.2431_2465dup35 mutation. She did not have diabetes mellitus or optic atrophy but had bilateral polar cataract. She did not carry the OPA1 sequence variant. Cataract could be a marker for the WFS1 heterozygosity in this family, namely the c.2431_2465dup35 mutation.

  2. Atopic dermatitis, cutaneous steroids and cataracts in children: two case reports

    Directory of Open Access Journals (Sweden)

    Tatham Andrew

    2008-04-01

    Full Text Available Abstract Introduction Atopic dermatitis is a chronic, pruritic, eczematous skin disease mediated through an immediate (type I hypersensitivity reaction. Posterior sub-capsular cataracts are a recognised complication of atopic dermatitis in adults; however they are rare in children. The management of atopic dermatitis is based on the exclusion of allergens, the use of emollients, and on topical corticosteroids for disease exacerbations. Cataracts may be due to atopic dermatitis but may also occur secondary to the use of corticosteroids. Case presentation We describe two children with atopic dermatitis, treated with cutaneous corticosteroids, both of whom were diagnosed with bilateral posterior sub-capsular cataracts. Conclusion These cases demonstrate that atopic dermatitis and topical corticosteroids may be associated with cataracts in children as well as adults. The cause of cataracts in atopic dermatitis is not known, however, it has been suggested that habitual tapping and rubbing of the face may play a role. Care needs to be taken when prescribing corticosteroids. Inadequate treatment of atopic dermatitis may lead to other ocular complications such as keratitis and permanent visual loss.

  3. Significant improvement in dynamic visual acuity after cataract surgery: a promising potential parameter for functional vision.

    Science.gov (United States)

    Ao, Mingxin; Li, Xuemin; Huang, Chen; Hou, Zhiqiang; Qiu, Weiqiang; Wang, Wei

    2014-01-01

    Dynamic visual acuity (DVA) is a relatively independent parameter for evaluating the ability to distinguish details of a moving target. The present study has been designed to discuss the extent to which age-related cataract impacts DVA in elderly individuals and to determine whether it could be restored after bilateral phacoemulsification combined with intraocular lens implantation surgery. Twenty-six elderly cataract patients scheduled for binocular cataract surgery and 30 elderly volunteers without cataract were enrolled in the study. DVA at 15, 30, 60 and 90 degree per second (dps) was assessed, and velocity-dependent visual acuity decreases between consecutive speed levels were calculated. Compared with the control group, the patient group exhibited significantly worse DVA performance at all speed levels (pDVA performance at every speed level in the patient group clearly improved (pDVA was more pronounced than the improvement in static visual acuity (p15 dps = 0.001 and pDVA was more severe than its effects on static visual acuity. After cataract surgery, not only static vision of the patients was restored markedly, but also the dynamic vision. DVA could be an important adjunct to the current evaluation system of functional vision, thereby meriting additional attention in clinical assessment.

  4. Abnormalities of the oculomotor nerve in congenital fibrosis of the extraocular muscles and congenital oculomotor palsy.

    Science.gov (United States)

    Lim, Key Hwan; Engle, Elizabeth C; Demer, Joseph L

    2007-04-01

    High-resolution magnetic resonance imaging (MRI) can now directly demonstrate innervation to extraocular muscles and quantify optic nerve size. A quantitative MRI technique was developed to study the oculomotor nerve (CN3) and applied to congenital fibrosis of extraocular muscles (CFEOM) and congenital oculomotor palsy. The subarachnoid portions of the CN3s were imaged with a 1.5-T MRI scanner and conventional head coils, acquiring heavily T(2)-weighted oblique axial planes 1-mm thick and parallel to the optic chiasm. Thirteen normal subjects, 14 with CFEOM, and 3 with congenital CN3 palsy were included. Digital image analysis was used to measure CN3 diameter, which was correlated with motility findings. In CFEOM, CN3 diameter was bilaterally subnormal in eight subjects, unilaterally subnormal in three subjects, and normal in three subjects. Mean +/- SD CN3 diameter in CFEOM was 1.14 +/- 0.61 mm, significantly smaller than the diameter in normal subjects, which measured 2.01 +/- 0.36 mm (P congenital CN3 palsy showed bilateral CN3 hypoplasia, but CN3 diameter was normal in two other subjects with congenital CN3 palsy. Unilateral or bilateral hypoplasia of CN3 is quantitatively demonstrable using MRI in many cases of CFEOM and occasionally in congenital CN3 palsy. Variations in CN3 diameter in CFEOM and congenital CN3 palsy suggest mechanistic heterogeneity of these disorders that may be clarified by further imaging and genetic studies.

  5. Heterochromia after pediatric cataract surgery.

    Science.gov (United States)

    Lenart, T D; Drack, A V; Tarnuzzer, R W; Fernandes, A; Lambert, S R

    2000-02-01

    Changes in iris color have been noted anecdotally after cataract surgery in infants, but they have not been studied systematically. The mechanism for these iris color changes has not previously been reported in the biomedical literature. Photographs were taken of both eyes of 15 children and 11 rhesus monkeys who had undergone unilateral cataract surgery. Masked examiners reviewed the photographs and compared the iris color of the eyes that were operated on with the eyes that were not operated on. Between 4 and 6 weeks postoperatively, the level of prostaglandin F(2alpha) in the aqueous humor (n = 4) and vitreous humor (n = 2) was measured in both the operated and nonoperated eyes of 4 monkeys that had undergone a neonatal lensectomy during the first 5 days of life. Thirteen of 15 children had a darker iris color in the operated eye in relation to the nonoperated (control) eye. Four of 11 monkeys had a uniformly darker iris in the operated eye; the other 7 monkeys had regional darkening or patches of darker iris in the eye that was operated on. The prostaglandin F(2alpha) levels in neonatal monkeys were higher in the aqueous humor and in the vitreous humor of the operated eye in relation to the nonoperated eye. In some children, cataract surgery is associated with a darkening of the iris color in the operated eye. We speculate that this darkening results from an exuberant prostaglandin release stimulated by the cataract surgery and may occur through the same or a similar mechanism by which latanoprost causes the darkening of iris color.

  6. Congenital hallux varus: case presentation and review of the literature.

    Science.gov (United States)

    Stanifer, E; Hodor, D; Wertheimer, S

    1991-01-01

    Congenital hallux varus is uncommon as an isolated deformity. Many authors cite this deformity in conjunction with metatarsus varus or talipes equino varus deformities. An unusual case of bilateral congenital hallux varus is presented in a 9-month-old. A review of etiologies and treatment methods are given.

  7. Congenital pits of the optic nerve head and retinochoroidal colobomas.

    Science.gov (United States)

    Brown, G C; Augsburger, J J

    1980-07-01

    A 45-year-old man presented with bilateral retinochoroidal colobomas associated with an inferonasal congenital pit of the optic nerve head in each eye. Different theories on the origin of such pits are discussed. This case supports the theory that some congenital optic pits occur as a result of failure of closure of the superior end of the embryonic fissure.

  8. Patient satisfaction with cataract surgery

    Directory of Open Access Journals (Sweden)

    Wasfi Ehab I

    2008-10-01

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

  9. Medicolegal pitfalls of cataract surgery.

    Science.gov (United States)

    Lee, Bryan S

    2015-01-01

    To provide a general overview of medicolegal issues that may arise before, during, and after cataract surgery. The Department of Health and Human Services Office of Inspector General has designated ophthalmology as an auditing target, an unusual step to take for an entire specialty. Ongoing False Claims Act litigation may provide greater clarity on billing Medicare for a premium intraocular lens patient's return to the operating room and charging for an intervening exam when performing cataract surgery on both eyes. Ophthalmologists should continue to follow basic principles that help decrease medicolegal risk. These include a thorough informed consent discussion before surgery and accurate and contemporaneous documentation. When complications arise, surgeons should handle them in accordance with best practices and refer patients appropriately. Problems can arise from inattentive postoperative care, so ophthalmologists should train staff members on handling of patient calls. Implementing safety protocols for intraocular lens implantation and asking for legal advice when considering certain types of financial arrangements are also prudent. Cataract surgeons also should follow guidelines for billing noncovered services carefully.

  10. A RARE CASE OF CONGENITAL ABNORMALITIES OF THE MAXILLOFACIAL REGION

    Directory of Open Access Journals (Sweden)

    Юлия Владимировна Степанова

    2014-09-01

    Full Text Available This article describes a rare case of congenital abnormality: a median facial cleft in combination with congenital complete bilateral cleft lip and palate. An integrated approach to the treatment of children with severe pathology of the maxillofacial area provides a good aesthetic and functional result. Surgical treatment in combination with orthodontic treatment, massage, myogymnastics, dynamic observation of the child contributes to the normal development of the maxillofacial area in a child with a rare congenital facial cleft.

  11. Congenital Abnormalities

    Science.gov (United States)

    ... Stages Ages and Stages Prenatal Baby (0-12 mos.) Toddler 1-3yrs. Preschool 3-5yrs Grade School ... Categories of Congenital Abnormalities Chromosome Abnormalities Chromosomes are structures that carry genetic material inherited from one generation ...

  12. Tracheomalacia - congenital

    Science.gov (United States)

    ... other congenital abnormalities, such as heart defects, developmental delay, or gastroesophageal reflux. Aspiration pneumonia can occur from ... urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows ...

  13. Aqueous humor ferritin in hereditary hyperferritinemia cataract syndrome.

    Science.gov (United States)

    Lenzhofer, Markus; Schroedl, Falk; Trost, Andrea; Kaser-Eichberger, Alexandra; Wiedemann, Helmut; Strohmaier, Clemens; Hohensinn, Melchior; Strasser, Michael; Muckenthaler, Martina U; Grabner, Guenther; Aigner, Elmar; Reitsamer, Herbert A

    2015-04-01

    Hereditary hyperferritinemia cataract syndrome (HHCS) is a rare autosomal dominant hereditary disease, characterized by hyperferritinemia but with absence of body iron excess and early onset of bilateral cataracts. Although 5- to 20-fold increased serum ferritin concentrations have been reported in HHCS patients, data of ferritin levels in aqueous humor have not been obtained. We therefore aimed to investigate the ferritin levels in aqueous humor and serum and further present histological and ultrastructural data of the lens. During cataract extraction and intraocular lens implantation, aqueous humor and lens aspirate of a 37-year-old HHCS patient were obtained from both eyes. Ferritin levels in serum and aqueous humor were quantitatively analyzed via immunoassays in the HHCS patient and healthy control subjects (n = 6). Lens aspirate in HHCS was analyzed histologically and at the ultrastructural level. Further, genetic mutation screening by polymerase chain reaction and DNA sequencing in blood was performed. Serum ferritin levels in the control group were 142.2 ± 38.7 μg/L, whereas in the HHCS patient, this parameter was excessively increased (1086 μg/L). Analysis of ferritin in aqueous humor revealed 6.4 ± 3.8 μg/L in normal control subjects and 146.3 μg/L (OD) and 160.4 μg/L (OS) in the HHCS patient. DNA analysis detected a C>A mutation on position +18, a T>G mutation on position +22, a T>C mutation on position +24, and a T>G polymorphism on position +26 in the iron-responsive element of the light-chain ferritin (L-ferritin) gene. In the HHCS patient, a 23-fold (OD) to 25-fold (OS) increased aqueous humor ferritin level was detected. Therefore, the formation of bilateral cataract in HHCS is most likely a result of elevated aqueous humor ferritin. In addition, a novel mutation in this rare disease in the iron-responsive element of L-ferritin gene is reported.

  14. Prenatal diagnosis of congenital cystic adenomatoid malformation of the lung: A case report

    International Nuclear Information System (INIS)

    Shin, Hyun Ja; Shin, M. J.; Yoo, Y. J.; Park, J. M.; Kim, J. R.

    1990-01-01

    Congenital cystic adenomatoid malformation is one of a rare congenital malformation usually unilateal in volving a part of lobe or a whole lobe of the fetal lung, characterized by excessive growing of terminal respiratory element. We made a prenatal diagnosis in a case of congenital cystic adenomdtoid malformation with diffuse bilateral involvement, Stocker Type III which is associated with fetal hydrops

  15. Development of feline microsatellites and SNPs for evaluating primary cataract candidate genes as cause for cataract in Angolan lions (Panthera leo bleyenberghi).

    Science.gov (United States)

    Philipp, Ute; Steinmetz, Andrea; Distl, Ottmar

    2010-01-01

    Primary cataracts (CAT) are characterized as any form of opacities of the eye lenses and are not accompanied by other diseases. CAT may impair vision depending on their size, location, and their state of progression. In order to investigate the cause of congenital or juvenile CAT in inbred Angolan lions kept in German zoos, we analyzed the genomic sequences of 4 crystalline genes CRYAA, CRYAB, CRYBB2, and CRYBB1. In addition, 10 CAT candidate genes (GJA3, LIM2, CRYGA, CRYGB, CRYGC, CRYGD CRYGS, BFSP2, CRYBA4, and CRYBB1) were analyzed using adjacent microsatellites. We identified 10 single nucleotide polymorphisms in the Angolan lion crystalline genes and 9 segregating microsatellites. Nonparametric and parametric linkage analyses did not reveal any linkage between one of the analyzed markers and CAT. So, we concluded that these genes can be excluded as causative for the familial primary cataract phenotype in these Angolan lions.

  16. Prenatal Diagnosis of Bilateral Pulmonary Agenesis: a Case Report

    International Nuclear Information System (INIS)

    Lee, Kyung A; Cho, Jeong Yeon; Lee, Seung Mi; Jun, Jong Kwan; Kang, Ji Eun; Seo, Jeong Wook

    2010-01-01

    We report a case of bilateral pulmonary agenesis (BPA), which was suspected during a prenatal US examination and diagnosed by fetal magnetic resonance imaging (MRI). BPA is an extremely rare congenital anomaly and, although many fetal structural defects can be detected with a high degree of confidence after introducing high-resolution US, the prenatal diagnosis of BPA remains problematic. Other thoracic abnormalities, such as a congenital diaphragmatic hernia, congenital cystic adenomatoid malformation, and pulmonary sequestration, should be excluded from the list of possible diagnoses before coming to the conclusion of BPA, because BPA is absolutely incompatible with extrauterine life, and an accurate internal diagnosis can prevent a futile intervention from being performed

  17. Prenatal Diagnosis of Bilateral Pulmonary Agenesis: a Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Kyung A; Cho, Jeong Yeon; Lee, Seung Mi; Jun, Jong Kwan; Kang, Ji Eun; Seo, Jeong Wook [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    2010-02-15

    We report a case of bilateral pulmonary agenesis (BPA), which was suspected during a prenatal US examination and diagnosed by fetal magnetic resonance imaging (MRI). BPA is an extremely rare congenital anomaly and, although many fetal structural defects can be detected with a high degree of confidence after introducing high-resolution US, the prenatal diagnosis of BPA remains problematic. Other thoracic abnormalities, such as a congenital diaphragmatic hernia, congenital cystic adenomatoid malformation, and pulmonary sequestration, should be excluded from the list of possible diagnoses before coming to the conclusion of BPA, because BPA is absolutely incompatible with extrauterine life, and an accurate internal diagnosis can prevent a futile intervention from being performed.

  18. Lutein and cataract: from bench to bedside.

    Science.gov (United States)

    Manayi, Azadeh; Abdollahi, Mohammad; Raman, Thiagarajan; Nabavi, Seyed Fazel; Habtemariam, Solomon; Daglia, Maria; Nabavi, Seyed Mohammad

    2016-10-01

    Cataract is one of the most important leading causes of blindness in the world. Extensive research showed that oxidative stress may play an important role in the initiation and progression of a cataract and other age-related eye diseases. Extra-generation of reactive oxygen and nitrogen species in the eye tissue has been shown as one of the most important risk factors for cataracts and other age-related eye diseases. With respect to this, it can be hypothesized that dietary antioxidants may be useful in the prevention and/or mitigation of cataract. Lutein is an important xanthophyll which is widely found in different vegetables such as spinach, kale and carrots as well as some other foods such as eggs. Lutein is concentrated in the macula and suppresses the oxidative stress in the eye tissues. A plethora of literature has shown that increased lutein consumption has a close correlation with reduction in the incidence of cataract. Despite this general information, there is a negligible number of review articles considering the beneficial effects of lutein on cataracts and age-related eye diseases. The present review is aimed at discussing the role of oxidative stress in the initiation and progression of a cataract and the possible beneficial effects of lutein in maintaining retinal health and fighting cataract. We also provide a perspective on the chemistry, sources, bioavailability and safety of lutein.

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

    African Journals Online (AJOL)

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

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

    African Journals Online (AJOL)

    Keywords: cataract surgery, dexmedetomidine, intraocular pressure, patient and surgeon satisfaction, topical anesthesia. Introduction. Traditionally, cataract surgeries are performed under regional anaesthesia with either a peribulbar or retrobulbar block. With the anaesthesia has also evolved from painful regional blocks to ...

  1. Survey of Cataract Surgical Techniques in Nigeria

    African Journals Online (AJOL)

    PROF SABE NWOSU

    polymethylmethacrylate. DISCUSSION. The results of this survey suggest that all practicing ophthalmologists in Nigeria perform cataract surgery with wide incision extracapsular cataract extraction and intraocular lens implant (ECCE/IOL) as the most frequently employed technique. Although pseudophakic technology in ...

  2. Prevalence of Cataract Blindness in Rural Ethiopia

    African Journals Online (AJOL)

    Bernt Lindtjørn

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

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

    African Journals Online (AJOL)

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

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

    African Journals Online (AJOL)

    hanumantp

    taught to residents. Since ECCE is the basic cataract surgery taught in developing countries, it is important to evaluate the complication rate of a trainee as a guide to the learning curve. Evaluation of Complications of Extracapsular. Cataract Extraction Performed by Trainees. Ezegwui IR, Aghaji AE, Okpala NE1, Onwasigwe ...

  5. Economic Constraints in Managing Complicated Cataracts | Ogun ...

    African Journals Online (AJOL)

    Failure to perceive light, inaccurate light projection, or sonographic evidence of retinal detachment are all reasons to avoid cataract surgery, as there is no hope of visual recovery. However, when a patient already accepts a blind eye, but wants cataract surgery to remove the cosmetic blemish of leukocoria, they may ...

  6. Trabeculectomy for Congenital Glaucoma in University College ...

    African Journals Online (AJOL)

    Introduction: Congenital glaucoma is an uncommon ocular condition affecting about 1/15,000 live births. About two third of cases are bilateral with a higher prevalence in males. The definitive treatment requires surgery which could be trabeculectomy, trabeculotomy, goniotomy, drainage tubes or a combination of ...

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

    Science.gov (United States)

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

    2009-07-15

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

  8. Pediatric cataract: challenges and future directions

    Directory of Open Access Journals (Sweden)

    Medsinge A

    2015-01-01

    Full Text Available Anagha Medsinge,1,2 Ken K Nischal1,2 1Pediatric Ophthalmology, Strabismus, and Adult Motility, Children’s Hospital of Pittsburgh of University of Pittsburgh Medical Center, (UPMC 2University of Pittsburgh School of Medicine, Pittsburgh, PA, USA Abstract: Cataract is a significant cause of visual disability in the pediatric population worldwide and can significantly impact the neurobiological development of a child. Early diagnosis and prompt surgical intervention is critical to prevent irreversible amblyopia. Thorough ocular evaluation, including the onset, duration, and morphology of a cataract, is essential to determine the timing for surgical intervention. Detailed assessment of the general health of the child, preferably in conjunction with a pediatrician, is helpful to rule out any associated systemic condition. Although pediatric cataracts have a diverse etiology, with the majority being idiopathic, genetic counseling and molecular testing should be undertaken with the help of a genetic counselor and/or geneticist in cases of hereditary cataracts. Advancement in surgical techniques and methods of optical rehabilitation has substantially improved the functional and anatomic outcomes of pediatric cataract surgeries in recent years. However, the phenomenon of refractive growth and the process of emmetropization have continued to puzzle pediatric ophthalmologists and highlight the need for future prospective studies. Posterior capsule opacification and secondary glaucoma are still the major postoperative complications necessitating long-term surveillance in children undergoing cataract surgery early in life. Successful management of pediatric cataracts depends on individualized care and experienced teamwork. We reviewed the etiology, preoperative evaluation including biometry, choice of intraocular lens, surgical techniques, and recent developments in the field of childhood cataract. Keywords: children, pediatric cataract, infantile

  9. Mondini dysplasia and congenital cytomegalovirus infection.

    Science.gov (United States)

    Bauman, N M; Kirby-Keyser, L J; Dolan, K D; Wexler, D; Gantz, B J; McCabe, B F; Bale, J F

    1994-01-01

    We report a case of bilateral temporal bone anomalies in a child with symptomatic congenital cytomegalovirus infection and severe, bilateral sensorineural hearing loss identified at 3 months of age. High-resolution temporal bone computed tomography (HRCT) revealed bilateral findings of a short, malformed cochlea lacking an interscalar septum, a short and wide internal auditory canal, and an enlarged vestibular aqueduct, features diagnostic of bilateral Mondini dysplasia. To determine the importance of this observation, we completed HRCT in five additional children between 7 months and 9 years of age who had evidence of symptomatic congenital cytomegalovirus infection. One child with profound sensorineural hearing loss had severe bilateral temporal bone dysplasia with a small cochlea lacking an interscalar septum, an abnormal vestibule, and a large cochlear aqueduct. Of the remaining four children, hearing thresholds ranged from normal to profoundly decreased, but their HRCT scans were normal to visual inspection. When inner ear dimensions of these temporal bones were compared with norms established by Pappas and coworkers, however, seven of the eight ears had short cochleas and narrow lateral semicircular canals, and three ears had short or narrow vestibules. These results indicate that congenital cytomegalovirus infection may cause anomalies or growth disturbances of the temporal bone.

  10. Encephalitozoon cuniculi causes focal anterior cataract and uveitis in dogs.

    Science.gov (United States)

    Nell, B; Csokai, J; Fuchs-Baumgartinger, A; Maaß, G

    2015-01-01

    Three mongrel dogs, aged 10 months (case 1), 14 months (case 2) and 7.5 years (case 3), were presented because of ophthalmologic disorders of 4 months, 6 months and 7 years duration, respectively. All three dogs were offspring of stray dogs from Hungary and Serbia and had positive serum antibody titres against Encephalitozoon (E.) cuniculi. The two young dogs showed unilateral, the older dog bilateral chronic anterior uveitis with posterior synechia and focal anterior cortical cataract. The fundi that could be evaluated developed focal tapetal hyporeflective lesions in the course of the disease. Dogs 1 and 2 underwent removal of the lens via phacoemulsification. PCR of the lens material was positive for E. cuniculi strains IV and II, respectively. In dog 2 findings suggestive of microsporidia were detected underneath the anterior lens capsule by immunohistochemical staining. In all cases medical treatment consisted of systemic fenbendazole, prednisolone, and topical anti-inflammatory drugs, and additional brinzolamid/timolol for dog 3. For the time being all cases (follow up 23 months, 6 months and 3 months, respectively) are still on topical anti-inflammatory therapy. It is concluded that E. cuniculi infections can cause cataract and chorioretinal lesions in dogs.

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

    Science.gov (United States)

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

    2010-08-01

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

  12. Topical‑intracameral anesthesia in manual small incision cataract ...

    African Journals Online (AJOL)

    Background: Cataract remains a leading cause of blindness worldwide. Manual small incision cataract surgery (MSICS) is currently practiced as the technique of choice in Sub‑Saharan Africa to reduce the backlog of cataract blindness. Optimal pain control during surgery remains a challenge to cataract surgeons. Aim: To ...

  13. Review: Femtosecond Laser Assisted Cataract Surgery (FLACS): An ...

    African Journals Online (AJOL)

    Age-related cataract is one of the most important causes of visual impairment, and cataract surgery is one of the commonest surgeries performed worldwide. Femtosecond laser assisted cataract surgery (FLACS) is a new and promising technology in the arena of cataract operations. Femtosecond lasers (FSL) are used in ...

  14. Bilateral microtia, canal atresia and aplasia of cochleovestibular nerve.

    Science.gov (United States)

    Asma, A; Roslenda, A R; Fadzilah, I; Mazita, A; Marina, M B; Ab Aziz, A

    2017-04-01

    A six-month-old baby with congenital patent ductus arteriosus (PDA), bilateral microtia and canal atresia was referred for hearing assessment. The audiology assessment revealed bilateral profound hearing loss, which is atypical for a case of pure canal atresia. Imaging was performed much earlier than usual and, as suspected, the patient also had bilateral severe inner ear anomaly. It is extremely rare for a person to have both external and inner ear anomaly because of the different embryological origin. The only suitable hearing rehabilitation option for this kind of patients is brainstem implant. However, the parents had opted for sign language as a form of communication.

  15. Congenital amusias.

    Science.gov (United States)

    Tillmann, B; Albouy, P; Caclin, A

    2015-01-01

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

  16. Congenital Constrictions

    OpenAIRE

    K Pavithran; Ramachandran Nair

    1984-01-01

    A young man having congenital annular constrictions of the legs with lymph-oedema of the left foot below the constriction, webbing of the fingers of both hands, anonychia of two fingers and intrauterine amputation of terminal phalanges of two finger and one big toe is reported.

  17. Congenital Constrictions

    Directory of Open Access Journals (Sweden)

    K Pavithran

    1984-01-01

    Full Text Available A young man having congenital annular constrictions of the legs with lymph-oedema of the left foot below the constriction, webbing of the fingers of both hands, anonychia of two fingers and intrauterine amputation of terminal phalanges of two finger and one big toe is reported.

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

    Directory of Open Access Journals (Sweden)

    BR Shamanna

    2004-01-01

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

  19. Medfødt bilateral stemmebåndsparese

    DEFF Research Database (Denmark)

    Meyer, Lars Christian; Godballe, Christian

    2009-01-01

    Congenital bilateral vocal cord paralysis (CBVCP) is a rare but potentially life-threatening condition and awareness of the condition is necessary to ensure early diagnosis and treatment. This case describes a 25-month-old boy suffering from CBVCP. The main symptoms at birth were inspiratory...

  20. Case Report: Bilateral iris, choroid, optic nerve colobomas and ...

    African Journals Online (AJOL)

    Background: Baraitser–Winter syndrome (BRWS) is a malformation syndrome, characterized by facial dysmorphism, ocular colobomata, pachygyria, and intellectual defects. Case report: A 3.5 year old female child with BRWS has bilateral congenital ptosis, microcornea, iris, choroid, and optic nerve coloboma, retinal ...

  1. A safe technique for in-the-bag intraocular lens implantation in pediatric cataract surgery.

    Science.gov (United States)

    Khokhar, Sudarshan; Sharma, Reetika; Patil, Bharat; Sinha, Gautam; Nayak, Bhagabat; Kinkhabwala, Ravish Akhilkumar

    2015-01-01

    To describe a safe technique for in-the-bag intraocular lens (IOL) implantation in pediatric cataract patients who undergo lens aspiration with primary posterior capsulorhexis and anterior vitrectomy. Sixty eyes of 45 consecutive patients with congenital/developmental cataract underwent lens aspiration with primary posterior continuous curvilinear capsulorhexis (PCCC) with anterior vitrectomy and in-the-bag IOL implantation using the described technique of IOL implantation using anterior capsule as support. All eyes had stable IOL at the end of surgery and none of the eyes had lens decentration/dislocation in posterior vitreous. Implantation of in-the-bag IOL is difficult in children who undergo primary PCCC with anterior vitrectomy. Our technique of implanting IOL by pushing it against the back surface of anterior capsule is a safe method and results in no complications related to faulty IOL implantation.

  2. Cataracts

    Science.gov (United States)

    ... Uveitis Focus On Pediatric Ophthalmology Education Center Oculofacial Plastic Surgery Center Laser Surgery Education Center Redmond Ethics Center ... Glaucoma Education Center Pediatric Ophthalmology Education Center Oculofacial Plastic ... Center Laser Surgery Education Center Redmond Ethics Center ...

  3. Cataract

    Science.gov (United States)

    ... activities such as driving, reading, or looking at computer or video screens, even with glasses. Some people ... M. is also a founding member of Hi-Ethics and subscribes to the principles of the Health ...

  4. Sutureless Cataract Surgery: Principles and Steps

    Directory of Open Access Journals (Sweden)

    John Sandford-Smith

    2003-01-01

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

  5. A case of bilateral endogenous Pantoea agglomerans endophthalmitis with interstitial lung disease.

    Science.gov (United States)

    Seok, Susie; Jang, Young Jun; Lee, Seung Woo; Kim, Ho Chang; Ha, Gyoung Yim

    2010-08-01

    We here in report a case of bilateral endogenous endophthalmitis caused by Pantoea agglomerans (P. agglomerans) in a patient who had interstitial lung disease and was treated with oral corticosteroids. A 72-year-old man presented with decreased visual acuity in both eyes nine days after he received oral corticosteroids. He had marked uveitis, cataracts, and vitreous opacities. Cultures were taken of blood, aqueous humor, and vitreous. We initially suspected a fungal etiology and treated him with antifungal drugs; however, the intraocular disease progressed without improvement. Vitreous culture was positive for P. agglomerans. The patient underwent pars plana vitrectomy with cataract surgery bilaterally, followed by a 2-week course of antibiotics. The final visual acuity was 20/25 in the right eye and 20/200 in the left eye. This is the first report of bilateral endogenous endophthalmitis caused by P. agglomerans in Korea; it is also the first case reported outside of the United States.

  6. Bilateral tibial agenesis and syndactyly in a cat.

    Science.gov (United States)

    Di Dona, Francesco; Murino, Carla; Della Valle, Giovanni; Fatone, Gerardo

    2016-07-19

    A three-year-old cat was referred to the Veterinary Teaching Hospital, University of Naples, Italy. The cat had severe pelvic limb deformity, and abnormal development of all four paws. Radiographs revealed bilateral tibial agenesis, syndactyly, and digital hypoplasia. No treatment was instituted because of the severity of the injury, the adaptation of the cat to the abnormal condition, and the owner's refusal to permit any treatment. Congenital limb deformities are rarely reported in the cat and tibial agenesis is considered a very rare disease. This congenital anomaly is well documented and classified in man, and it has been associated with other abnormalities in more complex syndromes. This paper reports clinical and radiographic findings in a cat affected by bilateral complete tibial agenesis associated with other congenital anomalies.

  7. Identification and functional analysis of GJA8 mutation in a Chinese family with autosomal dominant perinuclear cataracts.

    Directory of Open Access Journals (Sweden)

    Dongmei Su

    Full Text Available Congenital cataract is a clinically and genetically heterogeneous group of eye disorders that causes visual impairment and childhood blindness. The purpose of this study was to identify the genetic defect associated with autosomal dominant congenital perinuclear cataract in a Chinese family. A detailed family history and clinical data of the family were recorded, and candidate gene sequencing was performed to screen for mutation-causing disease in our study. Direct sequencing revealed a c.601G>A (p.E201K transversion in exon 2 of GJA8. This mutation co-segregated with all affected individuals in the family and was not found in unaffected family members or 100 unrelated controls. The function and mechanism of novel GJA8 point mutation E201K in Chinese patients were then investigated in this study. We found E201K aberrantly located in cytoplasm and prevented its location in the plasma membrane. Induction of E201K expression led to a decrease in cell growth and viability by MTT (3-(4,5-Dimethylthiazol-2-yl-2,5-diphenyltetrazolium bromide assay. Our study provides important evidence that GJA8 is a disease-causing gene for congenital cataract and that mutation of GJA8 has a potential causative effect.

  8. [Congenital hydrocephalus].

    Science.gov (United States)

    Malagón-Valdez, J

    2006-04-10

    Congenital hydrocephalus or ventriculomegaly is a disorder that now can be diagnosed in uterus with ultrasonography, this gives the chance of being able to give a treatment the earliest as possible. The clinical manifestations are reviewed, the diagnosis, the frequent treatment and causes of congenital hydrocephalus, being the first agenesis of the Sylvius' aqueduct, followed by Arnold-Chiari's malformations with mielomeningocele. In most of the cases the peritoneal-ventricle shunt is the best surgery treatment and now, the treatment with ventriculostomy of third ventricle by endoscopy has fewer complications apparently and in several cases it is the definitive treatment. The evolution of the diagnosis with the support of specific therapies is effective and the early treatment is good, of course taking into account the etiology.

  9. Pulmonary abscesses in congenital syphilis.

    Science.gov (United States)

    Bell, Carrie; Taxy, Jerome

    2002-04-01

    Congenital syphilis remains a public health concern in the United States. Infants whose mothers are treated in the third trimester without adequate prenatal care have an increased risk of morbidity and mortality in the immediate perinatal period. The identification of Treponema pallidum in tissue is definitive confirmation of infection. We report the case of a 32-week gestational age infant born to a mother treated for syphilis 7 days prior to delivery. The infant died 12.5 hours after birth. At autopsy, there was extensive acute hyaline membrane disease. In addition, there were bilateral pulmonary abscesses with spirochetes. The onset of maternal disease was unknown, but was probably early in or prior to the pregnancy. This is an unusual case of pulmonary involvement in congenital syphilis.

  10. Cataract Surgery in Anterior Megalophthalmos: A Review

    Science.gov (United States)

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

    2015-01-01

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

  11. Congenital diplopodia

    International Nuclear Information System (INIS)

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

    2003-01-01

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

  12. Bilateral ekstrauterin graviditet

    DEFF Research Database (Denmark)

    Kirkegaard, Ida; Kruse, Christina

    2009-01-01

    Bilateral tubal pregnancies are extremely rare and they are usually found after assisted reproductive techniques have been applied. A rare case of bilateral tubal pregnancy after natural conception, occurring in a woman without any predisposing factors for ectopic pregnancy, is presented....... The condition was diagnosed during laparoscopic surgery, and she was optimally treated with conservative tubal surgery. A short review of the literature is provided and discussed along with the clinical features, diagnostic difficulties and treatment options of bilateral tubal pregnancy. Udgivelsesdato: 2009...

  13. Congenital toxoplasmosis.

    Science.gov (United States)

    Kieffer, François; Wallon, Martine

    2013-01-01

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

  14. Galactose intolerance and the risk of cataract.

    OpenAIRE

    Winder, A. F.; Fells, P.; Jones, R. B.; Kissun, R. D.; Menzies, I. S.; Mount, J. N.

    1982-01-01

    Cataracts may arise in association with various major and minor disorders restricting galactose metabolism, and the risk is broadly associated with the degree of galactose intolerance. A family is described in which a girl presented at the age of 7 3/4 years with cataracts, galactosuria, and partial deficiencies of the enzymes galactokinase and galactose-1-phosphate uridyl transferase. Galactose intolerance as determined by an oral test was impaired and fluctuated with variation in activity o...

  15. Fluorometholone-induced cataract after photorefractive keratectomy.

    Science.gov (United States)

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

    1997-01-01

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

  16. The impact of cataract surgery on visual functioning, vision-related disability and psychological distress: a randomized controlled trial.

    Science.gov (United States)

    Walker, Janine G; Anstey, Kaarin J; Hennessy, Michael P; Lord, Stephen R; von Sanden, Chwee

    2006-11-01

    Determine whether there are changes in visual functioning, vision-related disability, health status and mood after cataract surgery. 45 adults (mean age = 73.7 years) with bilateral cataract needing surgery for the first eye were recruited from public ophthalmology clinics. The Visual Functioning-14 survey assessed visual disability. Minimal angle of resolution tested visual acuity, and the Melbourne Edge Test examined contrast sensitivity. Demographic, psychological, health and medication use variables were examined. Participants were randomized to either an intervention or control arm. Controls were assessed on two occasions at a 3-month interval before having surgery. The intervention group was assessed 1-2 weeks before surgery and then reassessed 3 months after surgery. Visual functioning improved for those who had cataract surgery with better visual acuity in the better (P = 0.010) and worse (P = 0.028) eye compared with controls. The intervention group reported fewer difficulties with overall vision-related disability (P = 0.0001), reading (P = 0.004) and instrumental activities of daily living (P = 0.010) post-surgery compared with controls. People with improved depression scores (P = 0.048) after surgery had less difficulty with reading compared with those with unchanged or worsened depression scores. Cataract surgery did not improve health status. First eye cataract surgery is effective in improving outcomes in visual functioning and disability. Improved mood after surgery was related to less vision-related disability compared with unchanged or worse depression.

  17. Time-trend and variations in the proportion of second-eye cataract surgery

    Directory of Open Access Journals (Sweden)

    Bernal-Delgado Enrique

    2007-04-01

    Full Text Available Abstract Background Despite recommendations for greater use of second-eye cataract surgery and the bilateral progression of the disease, there is a substantial proportion of unmet need for this treatment. Few studies have explored the factors associated with second-eye cataract surgery utilisation. The objective of our study was to estimate the proportion of second-eye cataract surgery, evaluate its time-trend, and explore differences in utilisation by patients' gender, age, and region of residence. Methods All senile cataract surgeries performed between 1999 and 2002 in the public health system of Catalonia (Spain were obtained from the Minimum Data Set. The proportion of second-eye surgery from November 2000 to December 2002 was calculated. The time-trend of this proportion was characterised through linear regression models with the logarithmic transformation of time. Results The proportion of second-eye surgery was 30.0% and showed an increasing trend from 24.8% (95% Confidence Interval [CI] 21.6; 26.1 in November 2000 to 31.8% (95% CI 31.4; 33.6 in December 2002. This proportion was 1.9% (95% CI 0.9; 2.9 higher in women (p Conclusion We predict greater utilization of second-eye surgery in patients aged 70 to 79 years and in women. A greater increase in the utilisation rates of second-eye surgery is expected in the regions with lower proportions and in older patients. The observed trend suggests that there will be a substantial proportion of unmet need for bilateral surgery.

  18. Canine cataracts, diabetes mellitus and spontaneous lens capsule rupture: a retrospective study of 18 dogs.

    Science.gov (United States)

    Wilkie, D A; Gemensky-Metzler, A J; Colitz, C M H; Bras, I D; Kuonen, V J; Norris, K N; Basham, C R

    2006-01-01

    To describe the clinical presentation and surgical outcome of diabetic canine patients with cataracts and preoperative spontaneous lens capsule rupture. A total of 20 dogs and 40 eyes were included in the retrospective evaluation. The patients' ages ranged from 5 to 14 years (mean 8.5 years). All dogs had clinical diabetes mellitus, with the duration since diagnosis ranging from 30 to 240 days (mean 123 days). Cataracts were bilateral and noted to have been present for 14-112 days (mean 39 days). Of the 40 eyes affected with cataracts, 30 had a spontaneous rupture of the lens capsule prior to surgery. The capsular rupture was diagnosed on clinical examination in 28/30 eyes and was noted intraoperatively in 2/30. The location of the capsular rupture was equatorial in 29/30 and posterior in 1/30 eyes. Surgery was performed in 38/40 eyes, with one case lost to follow-up without surgical intervention. Prior to surgery, routine diagnostic ophthalmic examination, ocular ultrasound, electroretinography, and systemic evaluation were performed in all dogs. Surgical procedures included phacoemulsification in 28/40 eyes, with IOL placement performed in 20/28 eyes. Intrascleral prosthesis placement or enucleation was performed in 8/40 and 2/40 eyes, respectively, due to a significantly reduced ERG or secondary glaucoma. The duration of clinical follow-up (19/20 dogs) ranged from 1 to 36 months (mean 12.9 months). All eyes that had cataract surgery with or without IOL placement were sighted at the time of the last follow-up examination. Spontaneous lens capsule rupture associated with diabetes mellitus, cataract and rapid lens intumescence occurs in the dog. Early surgical intervention, prior to secondary complications of glaucoma and loss of retinal function, is associated with a favorable outcome.

  19. Comparison of Two Intraocular Lens Implantation Techniques in Pediatric Cataract Surgery in Terms of Postoperative Complications

    Directory of Open Access Journals (Sweden)

    Mustafa Erdoğan Cicik

    2018-03-01

    Full Text Available Background: Pediatric cataract surgery differs substantially from adult cataract surgery. Numerous studies have focused on reducing the development of postoperative complications. Aims: To compare two intraocular lens implantation techniques used in pediatric cataract surgery in terms of postoperative complications. Study Design: Case-control study. Methods: Patients who underwent pediatric cataract surgery and intraocular lens implantation between 2008 and 2016 were evaluated in this retrospective study. Patients aged 3-15 years with unilateral or bilateral cataract and without corneal pathology were included in the study. The patients were categorized into the following two groups: those who underwent posterior capsulorhexis and anterior vitrectomy using in-the-bag intraocular lens implantation (group 1 and those who underwent posterior capsulorhexis and intraocular lens implantation with the optic fixed behind the posterior capsulorhexis (group 2. Rates of postoperative visual axis opacification and complications (glaucoma, posterior synechiae, uveitic reaction, and intraocular lens decentration were evaluated in these groups. The implanted intraocular lenses were either monoblock (AcrySof SN60AT intraocular lens, triple-piece (AcrySof MA60BM intraocular lens foldable hydrophobic acrylic lenses, or multifocal lenses (AcrySof IQ ReSTOR. Results: This retrospective study included 52 eyes of 37 patients. Group 1 comprised 26 eyes of 20 patients and group 2 comprised 26 eyes of 17 patients. During the follow-up, visual axis opacification was observed in two patients in group 1 but no patients in group 2. Regarding postoperative complications, there was no uveitic reaction, posterior synechiae, or intraocular lens decentration in either group. There was no significant difference between the groups in terms of the postoperative complications (p>0.05. Conclusion: There was no significant difference between in-the-bag intraocular lens implantation

  20. Pregnancy following bilateral salpingectomy

    DEFF Research Database (Denmark)

    Oturai, Annette Bang

    2008-01-01

    This report presents a rare case of spontaneous pregnancy following bilateral salpingectomy. A woman with a history of bilateral salpingectomy was admitted to hospital because of abdominal pain and positive urine HCG. Surprisingly, ultrasound confirmed a live intrauterine fetus. The pregnancy...

  1. [Bilateral vocal cord paralysis in children].

    Science.gov (United States)

    Takamatsu, I

    1996-01-01

    Eighteen infantile cases with bilateral vocal cord paralysis were treated at our hospital from 1970 to 1993. All cases were diagnosed using a flexible fiberscope to examine the larynx. Direct laryngoscopy was performed under general anesthesia for the definite diagnosis and differential diagnosis from laryngomalacia, subglottic stenosis, tracheal stenosis, or laryngeal web. Bilateral vocal cord paralysis in children is a rare disease, there have been few and reported cases. Eight cases were male and 10 cases were female. Thirteen cases were congenital, 4 cases acquired and 1 case was unknown. The characteristic symptoms of bilateral vocal cord paralysis include normal or near normal phonation with inspiratory stridor which may progress to complete respiratory obstruction. Associated anomalies and diseases included 3 cases of immature infant, 2 of myelomeningocele, and single cases of Arnold-Chiari malformation, cerebral palsy, hydrocephalus, laryngomalacia, William's syndrome, Wiedemann-Beckwith syndrome, hypoxia, esophageal hiatus hernia, gastroesophageal reflex, spina bifida, COFS syndrome, and cerebral atrophy. Laryngeal function was completely recovered in seven cases following growth of the children incompletely recovered in five cases, and 2 cases retained right vocal cord paralysis. Tracheostomy was performed in 2 cases. One case died from the original disease, and the other one case was unknown. Swallowing function, phonation and development were good. Our experience suggests that the airway with bilateral vocal cord paralysis in children can be managed well without the need for tracheostomy.

  2. The carbon footprint of cataract surgery.

    Science.gov (United States)

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

    2013-04-01

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

  3. Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataract.

    Directory of Open Access Journals (Sweden)

    Debbie S Kuo

    Full Text Available Congenital cataracts occur in isolation in about 70% of cases or are associated with other abnormalities such as anterior segment dysgenesis and microphthalmia. We identified a three-generation family in the University of California San Francisco glaucoma clinic comprising three individuals with congenital cataracts and aphakic glaucoma, one of whom also had microphthalmia. The purpose of this study was to identify a possible causative mutation in this family and to investigate its pathogenesis.We performed exome sequencing and identified a putative mutation in gap junction protein α8 (GJA8. We used PCR and DNA sequencing of GJA8 in affected and unaffected members of the pedigree to test segregation of the variant with the phenotype. We tested cellular distribution and function of the variant protein by immunofluorescence and intercellular transfer of Neurobiotin in transiently transfected HeLa cells.Exome sequencing revealed a variant in GJA8 (c.658A>G encoding connexin50 (Cx50 that resulted in a missense change (p.N220D in transmembrane domain 4. The variant was present in all three affected family members, but was also present in the proband's grandfather who was reported to be unaffected. The mutant protein localized to the plasma membrane and supported intercellular Neurobiotin transfer in HeLa cells.We identified a variant in transmembrane domain 4 of Cx50 in a family with autosomal dominant congenital cataracts. This variant has been previously identified in other cataract cohorts, but it is also present in unaffected individuals. Our study demonstrates that the mutant protein localized to the plasma membrane and formed functional intercellular channels. These data suggest that GJA8 c.658A>G is most likely a benign rare variant.

  4. Congenital eversion of upper eyelids: Case report and management

    Directory of Open Access Journals (Sweden)

    Maheshwari Rajat

    2006-01-01

    Full Text Available Congenital eversion of the upper eyelids is a rare condition, the exact cause of which remains unknown. It is more frequently associated with Down′s syndrome and black babies. If diagnosed early and treated properly, the condition can be managed without surgery. We report a case of congenital bilateral severe upper eyelid eversion in a normal infant, born by vaginal delivery. The case was conservatively managed by lubricants, antibiotics and eyelid patching.

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

    Science.gov (United States)

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

    2012-04-01

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

  6. Robot-assisted simulated cataract surgery.

    Science.gov (United States)

    Bourcier, Tristan; Chammas, Jimmy; Becmeur, Pierre-Henri; Sauer, Arnaud; Gaucher, David; Liverneaux, Philippe; Marescaux, Jacques; Mutter, Didier

    2017-04-01

    To evaluate the feasibility of robot-assisted simulated cataract surgery. Institut de Recherche Contre les Cancers de l'Appareil Digestif, European Institute of Telesurgery, and Strasbourg University Hospital, Strasbourg, France. Experimental study. Cataract surgeries were performed on a Kitaro cataract wet-lab training system simultaneously using the Da Vinci Xi robotic surgical system and the Whitestar Signature phacoemulsification system. For each procedure, the duration and successful completion of the surgery with or without ocular complications were assessed. Procedures were successfully performed on 25 lens nuclei. The feasibility of robot-assisted simulated cataract surgery was confirmed. The robotic surgical system provided the intraocular dexterity and operative field visualization necessary to perform the main steps of the phacoemulsification procedure; that is, corneal incisions, capsulorhexis, grooving, cracking, quadrant removal, and irrigation/aspiration of the ophthalmic viscosurgical device (OVD). The intervention of a second surgeon was required for the intraocular injections of OVD, balanced salt solution, and intraocular lenses. The mean operative time was 26.44 minutes ± 5.15 (SD). All lens nuclei were removed. Inadvertent enlargement of the main corneal incision caused by the phaco handpiece was observed in 2 cases. Experimental robot-assisted cataract surgery was technically feasible using the new robotic surgical system combined with a phacoemulsification machine. Copyright © 2017 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

  7. Bilateral Testicular Tumors Resulting in Recurrent Cushing Disease After Bilateral Adrenalectomy.

    Science.gov (United States)

    Puar, Troy; Engels, Manon; van Herwaarden, Antonius E; Sweep, Fred C G J; Hulsbergen-van de Kaa, Christina; Kamphuis-van Ulzen, Karin; Chortis, Vasileios; Arlt, Wiebke; Stikkelbroeck, Nike; Claahsen-van der Grinten, Hedi L; Hermus, Ad R M M

    2017-02-01

    Recurrence of hypercortisolism in patients after bilateral adrenalectomy for Cushing disease is extremely rare. We present a 27-year-old man who previously underwent bilateral adrenalectomy for Cushing disease with complete clinical resolution. Cushingoid features recurred 12 years later, with bilateral testicular enlargement. Hormonal tests confirmed adrenocorticotropic hormone (ACTH)-dependent Cushing disease. Surgical resection of the testicular tumors led to clinical and biochemical remission. Gene expression analysis of the tumor tissue by quantitative polymerase chain reaction showed high expression of all key steroidogenic enzymes. Adrenocortical-specific genes were 5.1 × 105 (CYP11B1), 1.8 × 102 (CYP11B2), and 6.3 × 104 (MC2R) times higher than nonsteroidogenic fibroblast control. This correlated with urine steroid metabolome profiling showing 2 fivefold increases in the excretion of the metabolites of 11-deoxycortisol, 21-deoxycortisol, and total glucocorticoids. Leydig-specific genes were 4.3 × 101 (LHCGR) and 9.3 × 100 (HSD17B3) times higher than control, and urinary steroid profiling showed twofold increased excretion of the major androgen metabolites androsterone and etiocholanolone. These distinctly increased steroid metabolites were suppressed by dexamethasone but unresponsive to human chorionic gonadotropin stimulation, supporting the role of ACTH, but not luteinizing hormone, in regulating tumor-specific steroid excess. We report bilateral testicular tumors occurring in a patient with recurrent Cushing disease 12 years after bilateral adrenalectomy. Using mRNA expression analysis and steroid metabolome profiling, the tumors demonstrated both adrenocortical and gonadal steroidogenic properties, similar to testicular adrenal rest tumors found in patients with congenital adrenal hyperplasia, suggesting the presence of pluripotent cells even in patients without congenital adrenal hyperplasia. Copyright © 2017 by the Endocrine Society

  8. Congenital upper eyelids ectropion in Down’s syndrome

    Directory of Open Access Journals (Sweden)

    Corredor-Osorio, Rafael

    2017-02-01

    Full Text Available Congenital bilateral ectropion of the upper eyelids is a rare, benign condition reported in ophthalmic literature. It is more frequently associated with Down’s syndrome, ichthyosis, and sporadic cases in newborns from black population. We report three cases of congenital bilateral upper eyelid ectropion associated with Down’s syndrome. Management of these patients usually requires medial and lateral canthoplasties, full-thickness pentagonal resection of the upper eyelids and placement of skin grafts. We present herein the evolution of one of these patients and we will discuss the mechanism of the eyelid ectropion and its treatment.

  9. Pregnancy following bilateral salpingectomy

    DEFF Research Database (Denmark)

    Oturai, Annette Bang

    2008-01-01

    This report presents a rare case of spontaneous pregnancy following bilateral salpingectomy. A woman with a history of bilateral salpingectomy was admitted to hospital because of abdominal pain and positive urine HCG. Surprisingly, ultrasound confirmed a live intrauterine fetus. The pregnancy...... was unwanted, and the woman decided to terminate the pregnancy. She was offered diagnostic examination to localise a potential fistula, but she declined. In a MEDLINE search of English literature this is only the second case of spontaneous pregnancy following bilateral salpingectomy Udgivelsesdato: 2008/4/21...

  10. [The denominations cataract and glaucoma].

    Science.gov (United States)

    Tornquist, R

    1997-01-01

    Since ancient times a grey or white pupil in an nearly blind eye was thought to be caused by a mucous substance in front of the lens. It was called "hypochysis" or "hypochyma" in Greece and "suffusio" in Rome. Later the term "cataract" (=waterfall) was the most popular denomination. A surgical method was tried very early with usually good effect, when with a thin needle, introduced into the eye, the opaque material was removed from the pupillary area. In the middle of the 17th century more careful investigations showed that there was no membrane in front of the lens, but the lens itself was opaque. The final proof was delivered when an extraction of the lens was performed with good effect. In ancient times incurable blindness, which was called glaucoma, was thought to be located to the lens, which probably had a very important role in the seeing process. The name (of Greek orgin) is translated "green" or "blue-green", which was sometimes notified to be the color of the lens, seen through the pupil, in these cases. A period of great confusion followed when the removal of this very important part of the eye did not lead to blindness but rather an improved vision. As there were significant difficulties in identifying the specific color of the pupil the name glaucoma seemed to be very inadequate. In the beginning of the 19th century a disease entity (which is to-day called acute closed-angle glaucoma) seemed to eventually fullfill the demand of a greenlooking pupil. The most characteristic symptoms are pain and a high intraocular pressure causing a corneal edema and a change of the blackness of the pupil to hazy grey (and maybe a little green?).

  11. A RARE CASE OF BILATERAL MICROSPHEREPHAKIA

    Directory of Open Access Journals (Sweden)

    Pandu

    2015-05-01

    Full Text Available Microspherophakia is rare bilateral congenital anamoly of the crystalline lens. The condition may be isolated , familial or it may be associated with systemic affections like Marfan's syndrome , Weil - Marchesani syndrome , hyperlysinemia and congenital rubella. Microspherophakia results in lenticular myopia , lens dislocation , usually inferiorly and inverse glaucoma. We present a case in a 8 year old child who presented with bilateral microspherophakia and anterior dislocation of lens of right eye. visual acuity in right eye was counting fingers close to face and i n left eye 6/60.IOP with perkins applanation tonometer was 30mmHg in right eye 22mmHg in left eye , cornea was hazy due to edema , anterior chamber was shallow in both eye patient was managed with emergency lens extraction of right eye and secondary ACIOL im plantation. Left eye was managed by laser peripheral iridotomy. IOP was within normal limits postoperatively in both eyes without any antiglaucoma medications. Postoperatively best corrected visual acuity in right was 6/18 and 6/9 in left eye.

  12. Methylphenidate (Ritalin)-associated cataract and glaucoma.

    Science.gov (United States)

    Lu, Chao-Kung; Kuang, Tung-Mei; Chou, Joe Ching-Kuang

    2006-12-01

    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.

  13. Space radiation and cataracts in astronauts

    Science.gov (United States)

    Cucinotta, F. A.; Manuel, F. K.; Jones, J.; Iszard, G.; Murrey, J.; Djojonegro, B.; Wear, M.

    2001-01-01

    For over 30 years, astronauts in Earth orbit or on missions to the moon have been exposed to space radiation comprised of high-energy protons and heavy ions and secondary particles produced in collisions with spacecraft and tissue. Large uncertainties exist in the projection of risks of late effects from space radiation such as cancer and cataracts due to the paucity [corrected] of epidemiological data. Here we present epidemiological [corrected] data linking an increased risk of cataracts for astronauts with higher lens doses (>8 mSv) of space radiation relative to other astronauts with lower lens doses (astronauts participating in NASA's Longitudinal Study of Astronaut Health (LSAH) and individual occupational radiation exposure data. These results, while preliminary because of the use of subjective scoring methods, suggest that relatively low doses of space radiation may predispose crew to [corrected] an increased incidence and early appearance of cataracts.

  14. Routine preoperative medical testing for cataract surgery

    Science.gov (United States)

    Keay, Lisa; Lindsley, Kristina; Tielsch, James; Katz, Joanne; Schein, Oliver

    2014-01-01

    Background Cataract surgery is practiced widely and substantial resources are committed to an increasing cataract surgical rate in developing countries. With the current volume of cataract surgery and the increases in the future, it is critical to optimize the safety and cost-effectiveness of this procedure. Most cataracts are performed on older individuals with correspondingly high systemic and ocular comorbidities. It is likely that routine preoperative medical testing will detect medical conditions, but it is questionable whether these conditions should preclude individuals from cataract surgery or change their perioperative management. Objectives (1) To investigate the evidence for reductions in adverse events through preoperative medical testing, and (2) to estimate the average cost of performing routine medical testing. Search methods We searched CENTRAL (which contains the Cochrane Eyes and Vision Group Trials Register) (The Cochrane Library 2011, Issue 12), MEDLINE (January 1950 to December 2011), EMBASE (January 1980 to December 2011), Latin American and Caribbean Literature on Health Sciences (LILACS) (January 1982 to December 2011), 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 9 December 2011. We used reference lists and the Science Citation Index to search for additional studies. Selection criteria We included randomized clinical trials in which routine preoperative medical testing was compared to no preoperative or selective preoperative testing prior to age-related cataract surgery. Data collection and analysis Two review authors independently assessed abstracts to identify possible trials for inclusion. For each included study, two review authors

  15. Anaesthesia for paediatric cataracts in developing countries - a ...

    African Journals Online (AJOL)

    Paediatric cataracts are now the leading cause of treatable childhood blindness in developing countries. Cataract in children is typically removed under general anaesthesia. To provide an overview of methods of anaesthesia for paediatric cataracts in resource-limited countries. We conducted a systematic literature review ...

  16. functional and psychological outcome of cataract surgeries in platea

    African Journals Online (AJOL)

    Perpetua

    the quality of life for many cataract-blind patients. Key words: cataract, blindness, outcome, Plateau State. INTRODUCTION. Up to 75% of blindness worldwide is a result of five preventable and treatable conditions. Cataract, an avoidable. 1 cause of blindness, is the leading cause of blindness and low vision worldwide.

  17. Parinaud's oculoglandular syndrome and possibly causing cortical cataract

    Directory of Open Access Journals (Sweden)

    Mariana Heid Rocha Hemerly

    2014-06-01

    Full Text Available According to the World Health Organization, cataract is the leading cause of blindness and visual impairment throughout the world. However, the etiology of cataracts often remains unknown. This report describes the development of cortical cataract in a patient after Parinaud's oculoglandular syndrome caused by the fungus Sporothrix schenckii.

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

    Directory of Open Access Journals (Sweden)

    Vasavada Abhay

    1993-01-01

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

  19. Congenital amusia.

    Science.gov (United States)

    Williamson, Victoria J; Stewart, Lauren

    2013-01-01

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

  20. Congenital hypothyroidism

    Directory of Open Access Journals (Sweden)

    Pankaj Agrawal

    2015-01-01

    Full Text Available Congenital hypothyroidism (CH is the one of the most common preventable cause of mental retardation. In the majority of patients, CH is caused by an abnormal development of the thyroid gland (thyroid dysgenesis that is a sporadic disorder and accounts for 85% of cases and the remaining 15% of cases are caused by dyshormonogenesis. The clinical features of congenital hypothyroidism are so subtle that many newborn infants remain undiagnosed at birth and delayed diagnosis leads to the most severe outcome of CH, mental retardation, emphasizing the importance of neonatal screening. Dried capillary blood is used for screening and it is taken from heel prick optimally between 2 and 5 days of age. Blood spot TSH or thyroxine (T4 or both are being used for CH screening in different programs around the world. Neonates with abnormal thyroid screening tests should be recalled immediately for examination and a venipuncture blood sample should be drawn for confirmatory serum testing. Confirmatory serum should be tested for TSH and free T4, or total T4. Serum TSH and T4 undergo dynamic changes in the first weeks of life; it is important to compare serum results with age-normal reference ranges. Treatment should be started promptly and infant should be rendered euthyroid as early as possible, as there is an inverse relationship between intelligence quotient (IQ and the age at diagnosis. Levothyroxine (l-thyroxine is the treatment of choice and American academy of pediatrics and European society of pediatric endocrinology recommend 10-15μgm/kg/day as initial dose. The immediate goal of therapy is to normalize T4 within 2 weeks and TSH within one month. The overall goal of treatment is to ensure growth and neurodevelopmental outcomes as close as possible to their genetic potential.

  1. Cataracts induced by microwave and ionizing radiation

    International Nuclear Information System (INIS)

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

    1988-01-01

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

  2. The prevalence and causes of bilateral and unilateral blindness in an elderly urban Danish population. The Copenhagen City Eye Study

    DEFF Research Database (Denmark)

    Buch, Helena; Vinding, T; La Cour, M

    2001-01-01

    PURPOSE: To study the prevalence and causes of bilateral and unilateral blindness in an elderly urban Danish population. METHODS: Data originated from a Danish epidemiologic cross-sectional random sample population eye survey conducted during the years 1986-1988. The population consisted of 1......) of blindness). RESULTS: The prevalence rates of bilateral and unilateral blindness were, respectively, 0.53% and 3.38% according to WHO, but 1.06% and 4.44% using NC. Bilateral blindness rose significantly with age (p=0.02). According to NC, age-related macular degeneration (AMD) was the leading cause...... of bilateral blindness, accounting for 60% of all blind persons. Glaucoma, myopic macular degeneration, cataract and retinitis pigmentosa were jointly the second most common cause, each accounting for 10% of all bilaterally blind persons. Diabetic retinopathy was not a cause of bilateral blindness. Amblyopia...

  3. Outsourced cataract surgery and postoperative endophthalmitis

    DEFF Research Database (Denmark)

    Solborg Bjerrum, Søren; Kiilgaard, Jens F; Mikkelsen, Kim Lyngby

    2013-01-01

    To compare the risk of postoperative endophthalmitis (PE) after cataract surgery at eye departments in public hospitals and private hospitals/eye clinics and to evaluate if the Danish National Patient Registry (NPR) is a reliable database to monitor the PE risk.......To compare the risk of postoperative endophthalmitis (PE) after cataract surgery at eye departments in public hospitals and private hospitals/eye clinics and to evaluate if the Danish National Patient Registry (NPR) is a reliable database to monitor the PE risk....

  4. MODERN POSSIBILITIES FOR PROPHYLAXIS OF CATARACT PROGRESSION

    Directory of Open Access Journals (Sweden)

    E. G. Polunina

    2017-01-01

    Full Text Available Cataract is one of the  most  common  diseases, especially in the  elderly. Despite  the  fact that  the  share of elderly people  in economically developed countries is higher than  in developing countries, the incidence  of cataract in people over 50 years  in Western countries is 15% and it is about  40%  in developing countries. The reasons are  unbalanced nutrition,  lack of specialized ophthalmic  care  at the initial stages of the disease, the impact of adverse environmental conditions,  etc.  Surgical treatment is the only curative method. However, there are  not always enough indications for this treatment on the one hand, and it is not always possible due to patient’s unfavorable physical status, on the other  hand.  The supportive anti-cataract therapy  should be provided with the dynamic follow-up in such  cases. The pharmaceutical industry offers anti-cataract drugs  with a different composition  and properties, they are  based on the  mechanisms of the  onset  and development of the  disease. “Oxidative stress” is one  of the  main factors, which can  be the  cause of both  nuclear  and  cortical  cataracts. There  are scattering zones in the mature nucleus  of the lens, an increase in extracellular  spaces between corrugated membrane protein-like deposits in case of cataract. It is generally believed that  the  basis  of these deposits are  denatured, initially water-soluble  proteins, which turn  into opaque  substances due to the action of quinoids products formed through  the disturbed metabolism of aromatic aminoacids (tryptophan, tyrosine,  etc..  Based  on this theory, an anti-cataract substance — pirenoxine was developed.  It inhibits the action of quinoids and prevents the formation of the len’s opacities  and the cataracts progression.

  5. Congenital hemihypertrophy and pheochromocytoma, not a coincidental combination?

    Science.gov (United States)

    van den Akker, Erica L T; de Krijger, Ronald R; de Herder, Wouter W; Drop, Stenvert L S

    2002-03-01

    We describe a 19-year-old female, known to have congenital hemihypertrophy, who presented with bilateral benign pheochromocytoma. This is the second time that this combination has been reported in the literature. We speculate that the combination of congenital hemihypertrophy and pheochromocytoma is not coincidental and could be part of the clinical spectrum of the Beckwith-Wiedemann syndrome. in patients with congenital hemihypertrophy, the physician should be aware of the symptoms of pheochromocytoma. Besides screening for abdominal tumours, analysis of plasma and/or urinary catecholamines and/or their metabolites should be considered.

  6. Respiratory distress of the newborn: congenital laryngeal atresia.

    Science.gov (United States)

    Ambrosio, Art; Magit, Anthony

    2012-11-01

    Congenital laryngeal atresia is a rare cause of respiratory distress of the newborn. The defect may be isolated or occur in association with other congenital abnormalities, notably the presence of a tracheoesophageal fistula, esophageal atresia, encephalocele, or Congenital High Airway Obstructive Syndrome (CHAOS). We present the case of a newborn with no identified intrapartum abnormalities with respiratory distress at birth secondary to near-complete laryngeal atresia. Management included tracheostomy, repeated endoscopic incisions, and serial balloon dilatations employing the topical use of Mitomycin C. Seven year follow-up was significant for mobilization of the true vocal cords bilaterally, as well as successful decannulation. Published by Elsevier Ireland Ltd.

  7. Bilateral Morgagni Hernia: A Unique Presentation of a Rare Pathology

    Directory of Open Access Journals (Sweden)

    Michael Leshen

    2016-01-01

    Full Text Available Morgagni hernia is an unusual congenital herniation of abdominal content through the triangular parasternal gaps of the anterior diaphragm. They are commonly asymptomatic and right-sided. We present a case of a bilateral Morgagni hernia resulting in delayed growth in a 10-month-old boy. The presentation was unique due to its bilateral nature and its symptomatic compression of the mediastinum. Diagnosis was made by 3D reconstructed CT angiogram. The patient underwent medical optimization until he was safely able to tolerate laparoscopic surgical repair of his hernia. Upon laparoscopy, the CT findings were confirmed and the hernia was repaired.

  8. Demographic features of subjects with congenital glaucoma

    Science.gov (United States)

    Tamçelik, Nevbahar; Atalay, Eray; Bolukbasi, Selim; Çapar, Olgu; Ozkok, Ahmet

    2014-01-01

    Context: Congenital glaucoma is a potentially blinding ocular disease of the childhood. Identification of the possible associated risk factors and may be helpful for prevention or early detection of this public health problem. Aims: To demonstrate the demographic features of congenital glaucoma subjects. Setting and Design: The charts of congenital glaucoma patients referred to Tamcelik Glaucoma Center were retrospectively reviewed through the dates of 2000 and 2013. Materials and Methods: Analyzed data included diagnosis, age at first presentation, symptoms at first presentation, laterality of the disease, sex, presence of consanguinity, family history of congenital glaucoma, maturity of the fetus at delivery, and maternal age at conception. Statistical Analysis Used: Statistical Package for Social Sciences (SPSS) version 19.0 by IBM (SPSS Inc, Chicago, Illinois, USA) was used to compare the mean of continuous variables with Student's t-test and analysis of variance (ANOVA) and χ2 test was used to test differences in proportions of categorical variables. Results: The data of 600 eyes of 311 patients were analyzed. The distribution of primary and secondary congenital glaucoma among the patients were 63.3% (n = 197) and 36.7% (n = 114), respectively. Of the 311 patients, 57.2% (n = 178) were male and 42.8% (n = 133) were female. The overall frequency of bilateral disease was 92.3% (n = 287). Overall rate of consanguinity and positive family history was 45.3% (n = 141) and 21.2% (n = 66), respectively. Conclusions: Bilateral disease in this study was more common than previously reported studies. Positive family history was more frequent in primary congenital glaucoma although not statistically significant. PMID:24881602

  9. Fear of falling and associated factors in community elderly with cataracts

    Directory of Open Access Journals (Sweden)

    Lorena de Andrade Cascalho

    Full Text Available ABSTRACT Objective: To investigate prevalence of the fear of falling of elderly with cataracts living in the community and the associated factors with high concern with falling occurrences. Methods: A cross-sectional, analytical and observational study. It was composed by 86 elderly diagnosed with bilateral cataracts. To quantify the fear of falling among elderly, the scale Falls Efficacy Scale-International-Brasil (FES-I-BRASIL was used. Other variables were obtained through application of a structured questionnaire. Results: Between participants, 41.9% reported low concern of falling, while 58.1% reported high concern. From those last ones, 52% fell at least once on the past 12 months and, 30% of them are recurrent fallers. The activities "to walk in slippery surfaces", "to walk in irregular surfaces" and, "to walk up and down the stairs" represented higher concern for elderly. Conclusion: Cataracts or any other visual issue predispose falls due to difficulty in overcoming obstacles present in the environment. Fear of falling is especially associated with factors acquired after the first fall episode.

  10. Rasch analysis of the hospital anxiety and depression scale among Chinese cataract patients.

    Directory of Open Access Journals (Sweden)

    Xianchai Lin

    Full Text Available To analyze the validity of the Hospital Anxiety and Depression Scale (HADS among Chinese cataract population.A total of 275 participants with unilateral or bilateral cataract were recruited to complete the Chinese version of HADS. The patients' demographic and ophthalmic characteristics were documented. Rasch analysis was conducted to examine the model fit statistics, the thresholds ordering of the polytomous items, targeting, person separation index and reliability, local dependency, unidimentionality, differential item functioning (DIF and construct validity of the HADS individual and summary measures.Rasch analysis was performed on anxiety and depression subscales as well as HADS-Total score respectively. The items of original HADS-Anxiety, HADS-Depression and HADS-Total demonstrated evidence of misfit of the Rasch model. Removing items A7 for anxiety subscale and rescoring items D14 for depression subscale significantly improved Rasch model fit. A 12-item higher order total scale with further removal of D12 was found to fit the Rasch model. The modified items had ordered response thresholds. No uniform DIF was detected, whereas notable non-uniform DIF in high-ability group was found. The revised cut-off points were given for the modified anxiety and depression subscales.The modified version of HADS with HADS-A and HADS-D as subscale and HADS-T as a higher-order measure is a reliable and valid instrument that may be useful for assessing anxiety and depression states in Chinese cataract population.

  11. Metabolism and serum levels of tryptophan in senile cataract patients.

    Science.gov (United States)

    Costa, C; Angi, M R; De Carli, M; Vanzan, S; Allegri, G

    1982-03-30

    In order to clarify the role of tryptophan in the patogenesis of senile cataract, we have studied the serum total and free levels of tryptophan in cataract patients as compared with age and sex-matched controls, and the urinary excretion of 10 metabolites after oral load of the amino acid. This excretion increases in the cataract group both as total per cent and as kynurenine. No difference has been found in the free and total serum tryptophan between normal subjects and cataract patients. A possible role of the kynurenines in the pathogenesis of senile cataract is suggested.

  12. Cataract-associated P23T γD-crystallin retains a native-like fold in amorphous-looking aggregates formed at physiological pH

    Science.gov (United States)

    Boatz, Jennifer C.; Whitley, Matthew J.; Li, Mingyue; Gronenborn, Angela M.; van der Wel, Patrick C. A.

    2017-05-01

    Cataracts cause vision loss through the large-scale aggregation of eye lens proteins as a result of ageing or congenital mutations. The development of new treatments is hindered by uncertainty about the nature of the aggregates and their mechanism of formation. We describe the structure and morphology of aggregates formed by the P23T human γD-crystallin mutant associated with congenital cataracts. At physiological pH, the protein forms aggregates that look amorphous and disordered by electron microscopy, reminiscent of the reported formation of amorphous deposits by other crystallin mutants. Surprisingly, solid-state NMR reveals that these amorphous deposits have a high degree of structural homogeneity at the atomic level and that the aggregated protein retains a native-like conformation, with no evidence for large-scale misfolding. Non-physiological destabilizing conditions used in many in vitro aggregation studies are shown to yield qualitatively different, highly misfolded amyloid-like fibrils.

  13. Physiotherapy management of an infant with Bilateral Congenital ...

    African Journals Online (AJOL)

    Results: Follow up after one year showed that the child could walk with apparently normal gait and there was no residual deformity Conclusion: There is need for more enlightenment on the importance of early referral of CTEV cases for Physiotherapy care. Keywords: Physiotherapy, talipes equinovarus, passive stretching, ...

  14. The prevalence of alcohol misuse in patients undergoing cataract surgery.

    Science.gov (United States)

    Davis, A R; Wilkins, M; Dew, T; Sherwood, R; Coakes, R; Peters, T J

    1998-04-01

    If a factor could be identified which delayed the onset of cataract by 10 years, the number of annual cataract operations worldwide has been estimated to decrease by 45%. A case-control study compared alcohol consumption in 78 patients attending for routine cataract surgery in South East London with data from a large population-based survey. Male cataract patients had a significantly greater risk of being harmful drinkers (odds ratio = 8, p = 0.007) than the controls. The harmful male drinkers were significantly younger than the non-drinkers with cataract (mean difference 15 years, p < 0.007). Female cataract patients were not more likely to be excessive drinkers than controls. The female drinkers with cataract were of a similar age to the non-drinking female patients with cataract. Haematological and biochemical indices of alcohol toxicity indicated five patients who were likely to be harmful drinkers, but who had denied this on direct questioning. Seven (26%) of the male patients had a low serum 25 hydroxycholecalciferol although the levels were normal in the female patients. These results support the view that excess alcohol consumption is related to cataract formation and suggest that alcohol causes premature cataract formation in male, but not female patients. Alcohol consumption is amenable to intervention and suggests that such intervention could have a significant impact on the need for cataract surgery.

  15. Ocular pathology in congenital heart disease.

    Science.gov (United States)

    Mansour, A M; Bitar, F F; Traboulsi, E I; Kassak, K M; Obeid, M Y; Megarbane, A; Salti, H I

    2005-01-01

    To describe the ocular findings in subjects with congenital heart disease (CHD). In a prospective study, the same observer examined 240 consecutive patients with CHD admitted to the medical centre. Two independent geneticists performed identification of syndromes. The commonest anatomic cardiac anomalies were ventricular or atrial septal defects (62), tetralogy of Fallot (39), pulmonary stenosis (25), and transposition of the great arteries (24). The heart lesions were divided physiologically into volume overload (90), cyanotic (87), and obstructive (63). In all, 105 syndromic subjects included the velocardiofacial syndrome (18), Down's syndrome (17), CHARGE association (6), DiGeorge syndrome (5), Williams syndrome (3), Edwards syndrome (3), Noonan syndrome (3), VACTERL association (2), and Patau syndrome (trisomy 13) (2). The paediatric team recognized 51 patients as syndromic. Two independent geneticists recognized additional 54 patients as syndromic. Positive eye findings were present in 55% (132) and included retinal vascular tortuosity (46), optic disc hypoplasia (30), trichomegaly (15), congenital ptosis (12), strabismus (11), retinal haemorrhages (8), prominent eyes (7), and congenital cataract (6). There was a strong correlation between the retinal vascular tortuosity and both a low haematocrit (P=0.000) and a low arterial oxygen saturation (P=0.002). Patients with CHD are at a high risk for ocular pathology and need screening for various ocular abnormalities.

  16. Cataract surgery following KAMRA presbyopic implant

    Directory of Open Access Journals (Sweden)

    Tan TE

    2013-09-01

    Full Text Available Tien-En Tan,1,2 Jodhbir S Mehta2–4 1Yong Loo Lin School of Medicine, National University of Singapore, Singapore; 2Singapore National Eye Centre, Singapore; 3Singapore Eye Research Institute, Singapore; 4Department of Clinical Sciences, Duke-NUS Graduate Medical School, Singapore Abstract: Intrastromal corneal inlays are an emerging treatment for presbyopic patients. The KAMRA™ small aperture inlay was the first such inlay to receive Conformité Européenne (CE marking in 2005. It has been shown to improve uncorrected near and intermediate visual acuity without adversely affecting uncorrected distance visual acuity. Due to the age of presbyopic patients, they may eventually develop cataracts. In two such cases, we found that cataract surgery with the KAMRA implant left in place was not technically more difficult, and that the surgical procedure could be improved by additional ocular rotations to improve visualization. Biometry readings were reliable, and it appeared that the SRK/T formula was accurate for calculation of intraocular lens power. Cataract surgery with the KAMRA implant left in situ is a viable option for patients. Keywords: cataract surgery, KAMRA, corneal inlay, AcuTarget, presbyopia

  17. Economic Constraints in Managing Complicated Cataracts

    African Journals Online (AJOL)

    intraocular pressures. While it is a standard practice to request for an ocular ultrasound scan in patients with traumatic cataracts when the fundus cannot be seen, the rationale is to determine the possible cause of visual loss and give the patient an idea of visual prognosis before surgery. However, where there is no hope of.

  18. Bilateral simultaneous infective keratitis.

    Science.gov (United States)

    On Annie, Lai Hiu; Ray, Manotosh

    2017-08-01

    To analyze the demographics, risk factors, clinical and microbiological characteristics of cases of bilateral simultaneous infective keratitis. In this retrospective case series, patients with clinical evidence of bilateral simultaneous infective keratitis were identified from January 1, 2011 to August 31, 2016. Demographics, risk factors, clinical and microbiological characteristics, and treatment outcomes were analyzed. Five patients (ten eyes) with bilateral simultaneous infective keratitis were identified. The mean age was 32.8 years (SD,±8.8; range, 24-44). All the patients were disposable soft contact lens wearers before presentation. The average size of the infiltrate was 4.76mm 2 (SD±9.0; range, 0.2-31.34). A total of 4 types of bacteria were isolated, with Pseudomonas aeruginosa being the most frequently isolated bacteria involving 5 eyes of four patients. Infection resolved with medical treatment in 9 eyes, 1 patient required therapeutic corneal transplantation for impending corneal perforation. The average time taken for infection to resolve was 6.7days (SD±4.5; range, 2-16). In this case series, the most common risk factor of bilateral simultaneous microbial keratitis was use of soft disposable contact lens and the most commonly isolated bacteria was Pseudomonas aeruginosa. Bilateral simultaneous infective keratitis is uncommon and is a serious complication of contact lens use in immunocompetent adult patients. Copyright © 2017 British Contact Lens Association. Published by Elsevier Ltd. All rights reserved.

  19. [Congenital hypothyroidism].

    Science.gov (United States)

    Castilla Peón, María Fernanda

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

  20. Significant improvement in dynamic visual acuity after cataract surgery: a promising potential parameter for functional vision.

    Directory of Open Access Journals (Sweden)

    Mingxin Ao

    Full Text Available PURPOSE: Dynamic visual acuity (DVA is a relatively independent parameter for evaluating the ability to distinguish details of a moving target. The present study has been designed to discuss the extent to which age-related cataract impacts DVA in elderly individuals and to determine whether it could be restored after bilateral phacoemulsification combined with intraocular lens implantation surgery. METHODS: Twenty-six elderly cataract patients scheduled for binocular cataract surgery and 30 elderly volunteers without cataract were enrolled in the study. DVA at 15, 30, 60 and 90 degree per second (dps was assessed, and velocity-dependent visual acuity decreases between consecutive speed levels were calculated. RESULTS: Compared with the control group, the patient group exhibited significantly worse DVA performance at all speed levels (p<0.001, and the decreases in velocity-dependent visual acuity were more serious in the patient group at the intervals of 0-15 dps (p<0.001, 15-30 dps (p = 0.007 and 30-60 dps (p = 0.008. Postoperatively, DVA performance at every speed level in the patient group clearly improved (p<0.001 and recovered to levels compatible to the control group. The decrease in visual acuity with increasing speed was less pronounced than during the preoperative phase (p0-15 dps = 0.001, p15-30 dps<0.001 and p30-60 dps = 0.001 and became similar to that of the control group. The postoperative visual benefit regarding DVA was more pronounced than the improvement in static visual acuity (p15 dps = 0.001 and p<0.001 at 30 dps, 60 dps and 90 dps. CONCLUSIONS: The impact of age-related cataract on DVA was more severe than its effects on static visual acuity. After cataract surgery, not only static vision of the patients was restored markedly, but also the dynamic vision. DVA could be an important adjunct to the current evaluation system of functional vision, thereby meriting additional attention in clinical assessment.

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

    International Nuclear Information System (INIS)

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

    2000-01-01

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

  2. Cataract surgery in patients with ocular pseudoexpholiation.

    Science.gov (United States)

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

    2013-01-01

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

  3. Cerebrotendinous xanthomatosis (CTX): an association of pulverulent cataracts and pseudo-dominant developmental delay in a family with a splice site mutation in CYP27A1--a case report.

    Science.gov (United States)

    Bourkiza, Rabia; Joyce, Sarah; Patel, Himanshu; Chan, Michelle; Meyer, Esther; Maher, Eamonn R; Reddy, M Ashwin

    2010-06-01

    A 15-year-old boy with developmental delay presented to the pediatric ophthalmology clinic with bilateral pulverulent cataracts. The family was examined for developmental delay, cataracts and systemic problems. The parents were consanguineous and originally from Bangladesh. All the children were born in the UK. The mother and 5 children had developmental delay. Three children had global developmental delay, diarrhea and pulverulent cataracts. Two children had microcephaly, developmental delay, constipation and no cataracts. The mother did not have microcephaly, cataracts or gastrointestinal problems. Linkage analysis via autozygosity testing was performed for detection of loci and candidate genes. The patients with cataracts were segregated with homozygous mutations in the CYP27A1 (G to A substitution at position +1 of intron 6). The complex nature of this family's findings suggested that it had an unusual autosomal dominant condition with variable expression. Autozygosity testing demonstrated that three members had Cerebrotendinous xanthomatosis (CTX), which is inherited in an autosomal recessive manner. The aetiology of the developmental delay in other family members remains unknown. Cerebrotendinous xanthomatosis is a rare autosomal recessive condition that can result in neurological deficits and early death if left untreated. In view of the reversible nature of the condition with appropriate treatment, there needs to be a high level of suspicion of CTX for any child with cataracts and developmental delay even if the pattern of inheritance is not straightforward at initial assessment.

  4. Prenatal Diagnosis of Bilateral Pulmonary Agenesis: a Case Report

    Science.gov (United States)

    Lee, Kyung A; Lee, Seung Mi; Jun, Jong Kwan; Kang, Jieun; Seo, Jeong-Wook

    2010-01-01

    We report a case of bilateral pulmonary agenesis (BPA), which was suspected during a prenatal US examination and diagnosed by fetal magnetic resonance imaging (MRI). BPA is an extremely rare congenital anomaly and, although many fetal structural defects can be detected with a high degree of confidence after introducing high-resolution US, the prenatal diagnosis of BPA remains problematic. Other thoracic abnormalities, such as a congenital diaphragmatic hernia, congenital cystic adenomatoid malformation, and pulmonary sequestration, should be excluded from the list of possible diagnoses before coming to the conclusion of BPA, because BPA is absolutely incompatible with extrauterine life, and an accurate internal diagnosis can prevent a futile intervention from being performed. PMID:20046503

  5. Staged bilateral carotid endarterectomy

    DEFF Research Database (Denmark)

    Schroeder, T; Sillesen, H; Engell, Hans Christian

    1986-01-01

    In a series of 56 staged bilateral carotid endarterectomies, new neurologic symptoms developed in 5% and 20% following the first and second procedure, respectively. All complications were transient or minor. The incidence of postendarterectomy hypertension was significantly higher following...... the second procedure, when operations were staged less than 3 weeks apart. A correlation between these hypertensive episodes and the occurrence of new neurologic symptoms could not be shown. However, as this correlation has been proved in several other reports, bilateral carotid endarterectomy is advised...... to be staged at least 3 weeks apart. In addition, a conservative attitude towards contralateral asymptomatic lesions is proposed....

  6. Congenital Morgagni's hernia in infants and children: a national review

    African Journals Online (AJOL)

    Background Congenital Morgagni's hernia (CMH) is rare and has unique features in terms of clinical presentation, high incidence of bilaterality, and associated anomalies. This is a review of all CMH cases reported from Saudi. Arabia, highlighting clinical features, associated anomalies, aspects of diagnosis, and ...

  7. Congenital Morgagni's hernia in infants and children: a national review

    African Journals Online (AJOL)

    Background: Congenital Morgagni's hernia (CMH) is rare and has unique features in terms of clinical presentation, high incidence of bilaterality, and associated anomalies. This is a review of all CMH cases reported from Saudi Arabia, highlighting clinical features, associated anomalies, aspects of diagnosis, and ...

  8. MRI of congenital Foix-Chavany-Marie syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Cellerini, M. [Cattedra di Neuroraliologia, Univ. di Firenze (Italy); Mascalchi, M. [Cattedra di Radiologia, Univ. di Pisa (Italy); Salvi, F. [Div. di Neurologia, Ospedale Bellario, Bologna (Italy); Muscas, G.C. [Dipt. di Scienze Neurologiche e Psichiatriche, Univ. di Firenze (Italy); Dal Pozzo, G. [Cattedra di Neuroraliologia, Univ. di Firenze (Italy)

    1995-06-01

    MRI findings of bilateral central macrogyria allowed the diagnosis of a congenital variant of Foix-Chavany-Marie syndrome in four patients aged between 13 and 32 years, with facio-pharyngo-glosso-masticatory central diplegia, mental retardation and seizures. (orig.)

  9. Congenital hearing loss. Is CT enough? | Agha | Alexandria Journal ...

    African Journals Online (AJOL)

    Patients and methods: This is a prospective study including 60 patients, 24 males and 36 females aged from 1 to 7 years, who were presented by unilateral or bilateral congenital conductive (CHL) or/and sensorineural hearing loss (SNHL). All patients were evaluated by HRCT scan with post-processing multiplanar ...

  10. Congenital heart disease

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001114.htm Congenital heart disease To use the sharing features on this page, please enable JavaScript. Congenital heart disease (CHD) is a problem with the heart's structure ...

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

    Science.gov (United States)

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

    2007-02-01

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

  12. Family Functionality in Mexican Children with Congenital and Non-Congenital Deafness

    OpenAIRE

    D. Estrella; A. Silva; R. Zapata; H. Rubio

    2017-01-01

    A total of 100 primary caregivers (mothers, fathers, grandparents) with at least one child or grandchild with a diagnosis of congenital bilateral profound deafness were assessed in order to evaluate the functionality of families with a deaf member, who was evaluated by specialists in audiology, molecular biology, genetics and psychology. After confirmation of the clinical diagnosis, DNA from the patients and parents were analyzed in search of the 35delG deletion of the GJB2 gene to determine ...

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

    Indian Academy of Sciences (India)

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

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

    Indian Academy of Sciences (India)

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

  15. Gestational and congenital syphilis.

    Science.gov (United States)

    Wendel, G D

    1988-06-01

    The frequency of congenital syphilis continues to increase throughout the United States during the 1980s. Untreated maternal infection can lead to stillbirth, premature labor, congenital infection, and neonatal death. Preventive measures, based on control of early syphilis in women, prenatal care, improved diagnosis and diligent followup, can help to decrease the incidence of congenital syphilis. The clinical presentation and recommended regimens for therapy of the gravida with syphilis and neonates with suspected congenital syphilis are reviewed.

  16. Theater for Development Methodology in Childhood Cataract Case Finding

    Directory of Open Access Journals (Sweden)

    Roseline Ekanem Duke

    2016-03-01

    Full Text Available The key informant methodology for case finding for childhood cataract  was utilized  in a rural population in Nigeria to identify suitable children who would benefit surgically from intervene for cataract and restore vision such children. It was however noticed that some parents who had children with cataract did not bring their children to the primary health center for examination and recommendation. The purpose of this study is to investigate the benefits of using the theatre for development approach in childhood cataract case finding. The delay in identification and referral of children with cataract at an appropriate age for surgical intervention and optical rehabilitation is the main cause of poor vision following surgery for the condition as amblyopia results. Therefore early presentation, identification, referral and surgical intervention as well as appropriate optical rehabilitation is the key to successful surgical outcome of childhood cataract and good visual prognosis. The theater for development (TfD approach methodology was implemented in a community in Akpabuyo local government are of Cross River state, Nigeria as a means to enhance community participation, health promotion and education and to complement the key informant methodology in case finding for childhood cataract. Three children with cataracts were referred by the community following the TfD intervention, for cataract surgery and uptake of follow up care after surgery. The TfD approach appears to be a useful method for encouraging community participation in the case finding of childhood cataract.

  17. Bilateral lunate intraosseous ganglia

    International Nuclear Information System (INIS)

    Pablos, J.M.; Valdes, J.C.; Gavilan, F.

    1998-01-01

    An intraosseous ganglion is a relatively uncommon, benign, cyst-like lesion that occurs in young and middle-aged adults. Most commonly seen adjacent to the hip, ankle, knee, or wrist, they are histologically identical to their soft tissue counterparts. A review of the literature revealed only two previously reported examples of bilateral symmetrical ganglia of the lunate bones. (orig.)

  18. Homogeneous bilateral block shifts

    Indian Academy of Sciences (India)

    Homogeneous bilateral block shifts. ADAM KORÁNYI. Department of Mathematics, The Graduate Center, City University of New York,. New York, NY 10016, USA. E-mail: Adam.Koranyi@lehman.cuny.edu. MS received 18 January 2013. Abstract. A new 3-parameter family of homogeneous 2-by-2 block shifts is described.

  19. Homogeneous bilateral block shifts

    Indian Academy of Sciences (India)

    A new 3-parameter family of homogeneous 2-by-2 block shifts is described. These are the first examples of irreducible homogeneous bilateral block shifts of block size larger than 1. Author Affiliations. Adam Korányi1. Department of Mathematics, The Graduate Center, City University of New York, New York, NY 10016, USA ...

  20. Bilateral breast carcinoma

    International Nuclear Information System (INIS)

    Kim, Eung Jo; Oh, Ki Keun

    1990-01-01

    We evaluate 311 breast cancer patients admitted to Yong Dong Severance Hospital Between October 1st 1985 and July 31th 1989, and were able to obtain the following conclusions. 1) There were 14(4.5%) bilateral breast cancers among the 311 confirmed breast cancers. 2) Among the bilateral breast cancers, 5(31%) were synchronous and 9(69%) metachronous. 3) Average interval between the first and the second breast cancer in metachronous cancers was 3.8 year(1-15 years). 4) Bilateral breast cancer was most prevalent in the fifth decade (6/14) with the mean age of 47 years. 5) Film mammogram and sonomammogram showed findings of typical breast malignancies. There was no additional specific findings for each cancer in bilateral breast cancers which was different from unilateral cancers. Therefor, in the patients with unilateral breast cancer, possibility of the second lesion in the contralateral side must be considered and a close follow up observation should be done for at least 3 years

  1. Bilateral akillesseneruptur hos nyretransplanterede

    DEFF Research Database (Denmark)

    Skovgaard, D; Feldt-Rasmussen, B F; Nimb, L

    1996-01-01

    Increased incidence of tendinitis and tendon ruptures is reported in recipients of a kidney transplant. Two cases of bilateral achilles tendon rupture after minimal trauma are described. Tendon ruptures are more frequent in individuals with kidney disease in dialysis or after transplantation comp...

  2. Homogeneous bilateral block shifts

    Indian Academy of Sciences (India)

    Douglas class were classified in [3]; they are unilateral block shifts of arbitrary block size (i.e. dim H(n) can be anything). However, no examples of irreducible homogeneous bilateral block shifts of block size larger than 1 were known until now.

  3. A rare case of bilateral aspergillus endophthalmitis

    Directory of Open Access Journals (Sweden)

    Saurabh Gupta

    2015-12-01

    Full Text Available Aspergillus endophthalmitis is a devastating inflammatory condition of the intraocular cavities that may result in irreparable loss of vision and rapid destruction of the eye. Almost all cases in the literature have shown an identified source causing aspergillus endophthalmitis as a result of direct extension of disease. We present a rare case of bilateral aspergillus endophthalmitis. A 72-year-old woman with a history of diabetes mellitus, congenital Hirschsprung disease, and recent culture-positive candida pyelonephritis with hydronephrosis status post-surgical stent placement presented with difficulty opening her eyes. She complained of decreased vision (20/200 with pain and redness in both eyes – right worse then left. Examination demonstrated multiple white fungal balls in both retinas consistent with bilateral fungal endophthalmitis. Bilateral vitreous taps for cultures and staining were performed. Patient was given intravitreal injections of amphotericin B, vancomycin, ceftazidime, and started on oral fluconazole. Patient was scheduled for vitrectomy to decrease organism burden and to remove loculated areas of infection that would not respond to systemic antifungal agents. Four weeks after initial presentation, the fungal cultures revealed mold growth consistent with aspergillus. Patient was subsequently started on voriconazole and fluconazole was discontinued due to poor efficacy against aspergillus. Further workup was conducted to evaluate for the source of infection and seeding. Transthoracic cardiogram was unremarkable for any vegetation or valvular abnormalities. MRI of the orbits and sinuses did not reveal any mass lesions or bony destruction. CT of the chest was unremarkable for infection. Aspergillus endophthalmitis may occur because of one of these several mechanisms: hematogenous dissemination, direct inoculation by trauma, and contamination during surgery. Our patient's cause of bilateral endophthalmitis was through an

  4. PROGNOSIS, PREVENTION, AND TREATMENT OF DIABETIC CATARACT SURGERY POSTOPERATIVE COMPLICATIONS

    Directory of Open Access Journals (Sweden)

    M. A. Kovalevskaya

    2015-01-01

    Full Text Available Aim. To study immune and antioxidant status of diabetic cataract patients and to assess the efficacy of preoperative preparation for diabetic cataract surgery to prevent intra- and postoperative complications and the efficacy of cataract treatment in metabolic syndrome patients. Patients and methods. 136 cataract patients (272 eyes were examined (mean age 62±3.2 years. Among these patients, women predominated (n = 74. Control group included 25 healthy volunteers (10 men and 15 women aged 32‑56 (mean age 44.3±2.4 years without ocular diseases (50 eyes. Two patient groups were examined. Group 1 included 78 patients (mean age 54±1.5 younger than 60 (52.5 % with similar lens morphological changes and metabolic disorders who were diagnosed with complicated (diabetic cataract. Group 2 included 58 patients with age-related cataract. Tear, anterior chamber (AC humor, and blood tests were performed. Immune status, lipid peroxidation parameters in tear fluid and blood, active peroxiredoxin 6 (PRDX6 and / or its breakdown fragments in tear fluid and AC humor were studied. In group 1 (age-related cataracts, somatic disorders were diagnosed in 4.5 % of cases, in group 2 (complicated cataracts, somatic disorders were diagnosed in 100 % of cases. Expression of protective enzymes against oxidative stress in tear fluid was studied. Activity of tear antioxidant enzymes under oxidative stress conditions in therapy and after cataract surgery was evaluated. Results. Postoperatively, increase in PRDX6 level was revealed in age-related cataract patients. The absence of phaco complications confirms these findings. In complicated (diabetic cataracts, PRDX6 level was 6‑times less than in age-related cataracts. Conclusions. Prophylaxis of inflammatory complications in age-related cataract patients can be performed using the following schedule: 0.5 % levofloxacin 4 times daily, bromfenac once daily. 

  5. The effect of early auditory experience on the spatial listening skills of children with bilateral cochlear implants.

    Science.gov (United States)

    Killan, Catherine F; Royle, Nicola; Totten, Catherine L; Raine, Christopher H; Lovett, Rosemary E S

    2015-12-01

    Both electrophysiological and behavioural studies suggest that auditory deprivation during the first months and years of life can impair listening skills. Electrophysiological studies indicate that 3½ years may be a critical age for the development of symmetrical cortical responses in children using bilateral cochlear implants. This study aimed to examine the effect of auditory experience during the first 3½ years of life on the behavioural spatial listening abilities of children using bilateral cochlear implants, with reference to normally hearing children. Data collected during research and routine clinical testing were pooled to compare the listening skills of children with bilateral cochlear implants and different periods of auditory deprivation. Children aged 4-17 years with bilateral cochlear implants were classified into three groups. Children born profoundly deaf were in the congenital early bilateral group (received bilateral cochlear implants aged ≤3½ years, n=28) or congenital late bilateral group (received first implant aged ≤3½ years and second aged >3½ years, n=38). Children with some bilateral acoustic hearing until the age of 3½ years, who subsequently became profoundly deaf and received bilateral cochlear implants, were in the acquired/progressive group (n=16). There were 32 children in the normally hearing group. Children completed tests of sound-source localization and spatial release from masking (a measure of the ability to use both ears to understand speech in noise). The acquired/progressive group localized more accurately than both groups of congenitally deaf children (p<0.05). All three groups of children with cochlear implants showed similar spatial release from masking. The normally hearing group localized more accurately than all groups with bilateral cochlear implants and displayed more spatial release from masking than the congenitally deaf groups on average (p<0.05). Children with bilateral cochlear implants and early

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

    Directory of Open Access Journals (Sweden)

    Liuyang Li

    2018-01-01

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

  7. Bilateral optic disc pit with maculopathy in a patient with cleft lip and cleft palate

    Directory of Open Access Journals (Sweden)

    Anisha Seth

    2015-01-01

    Full Text Available Optic disc pit (ODP is small, gray-white, oval depression found at the optic nerve head. It is a congenital defect that occurs due to imperfect closure of superior edge of the embryonic fissure. Cleft lip and palate are also congenital midline abnormalities occurring due to defect in the fusion of frontonasal prominence, maxillary prominence and mandibular prominence. There is only one case report describing the occurrence of ODP in a young patient with cleft lip and palate who also had basal encephalocele. We describe a 52-year-old patient with congenital cleft lip and palate with bilateral ODP with maculopathy but without any other midline abnormality.

  8. Maximal mydriasis evaluation in cataract surgery

    Directory of Open Access Journals (Sweden)

    Ho Tony

    1992-01-01

    Full Text Available We propose the Maximal Mydriasis Test (MMT as a simple and safe means to provide the cataract surgeon with objective and dependable pre-operative information on the idiosyncratic mydriatic response of the pupil. The MMT results of a consecutive series of 165 eyes from 100 adults referred for cataract evaluation are presented to illustrate its practical applications and value. The results of the MMT allows the surgeon to anticipate problem eyes pre-operatively so that he can plan his surgical strategy more appropriately and effectively. Conversely, the surgeon can also appropriately and confidently plan surgical procedures where wide pupillary dilation is important. The MMT has also helped improve our cost-effectiveness by cutting down unnecessary delays in the operating room and enabling better utilisation of restricted costly resources.

  9. Atypical case of ocular hemosiderosis: leopard cataract.

    Science.gov (United States)

    Masket, Samuel; Ceran, Basak Bostanci

    2011-10-01

    We present an interventional case report of an 83-year-old woman who developed ocular hemosiderosis secondary to massive retinal and intravitreal bleeding associated with a choroidal neovascular membrane as a result of age-related macular degeneration. Anterior segment manifestations included low-grade inflammation, posterior synechiae, reversible hyperchromic heterochromia, and a mature cataract with "leopard spots." The longstanding vitreous hemorrhage was thought to be the etiology of these findings. At the request of the vitreoretinal surgeon, cataract surgery was performed to provide visualization of the posterior segment. However, the patient's visual potential was limited by her underlying retinal pathology. Neither author has a financial or proprietary interest in any material or method mentioned. Additional disclosure is found in the footnotes. Copyright © 2011 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

  10. [Correlation between Alzheimer disease and cataract].

    Science.gov (United States)

    Liu, S S; Zhu, S Q

    2017-04-11

    Alzheimer disease (AD) is a progressive neurodegenerative disease and is a leading cause of dementia among elders. In the early phase of AD, even if neuropathological changes presented, but little to none clinical symptoms were found. Therefore, it is difficult to diagnose AD in the beginning of the disease. It is vital to find a noninvasive way for both diagnose and prognosis of AD. Studies have found that β-amyloid (Aβ) works as a connection between AD and cataract. This review will discuss AD and its associated markers which may be present in the lens and cataract related AD to provide more basis for early diagnosis of AD. (Chin J Ophthalmol, 2017, 53: 314-316) .

  11. Influence factors of visual quality after phacoemulsification for cataract

    Directory of Open Access Journals (Sweden)

    Zhen-Lin Lin

    2017-12-01

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

  12. Prevalence and outcomes of cataract surgery in adult rural Chinese populations of the Bai nationality in Dali: the Yunnan minority eye study.

    Directory of Open Access Journals (Sweden)

    Wei Shen

    Full Text Available PURPOSE: To investigate the prevalence and visual acuity (VA outcomes of cataract surgery in adults of the Bai Nationality populations in rural China. METHODS: We conducted a population-based cross-sectional survey (from randomly selected block groups of Chinese Bai Nationality aged ≥50 years in southwestern China. Presenting visual acuity (PVA, best corrected visual acuity (BCVA were recorded and a detailed eye examination was carried out. For all aphakic and pseudophakic subjects identified, information on the date, setting, type, and complications of cataract surgery were recorded. In eyes with VA <20/63, the principal cause of visual impairment was identified. RESULTS: Of 2133 (77.8% of 2742 subjects, 99 people (129 eyes had undergone cataract surgery. The prevalence of cataract surgery was 4.6%. Surgical coverage among those with PVA <20/200 in both eyes because of cataract was 52.8%. Unoperated cataract was associated with older age. The main barrier to cataract surgery was lack of awareness and knowledge, cost, and fear. Among the 129 cataract-operated eyes, 22.5% had PVA of ≥20/32, 25.6% had PVA of 20/40 to 20/63, 23.3% had PVA <20/63 to 20/200, and 28.7% had PVA<20/200. With BCVA, the percentages were 42.6%, 23.3%, 10.9%, and 23.3%, respectively. Aphakia (odds ratio [OR], 8.49; P<0.001 and no education (OR, 10.18; P = 0.001 or less education (OR, 6.49; P = 0.014 were significantly associated with postoperative visual impairment defined by PVA, while aphakia (OR, 8.49; P<0.001 and female gender (OR, 4.19; P = 0.004 were significantly associated with postoperative visual impairment by BCVA. The main causes of postoperative visual impairment were refractive error, retinal disorders and glaucoma. CONCLUSIONS: Half of those with bilateral visual impairment or blindness because of cataract remain in need of cataract surgery in Bai population. Surgical uptake and visual outcomes should be further improved in the future.

  13. Vitamin D deficiency and posterior subcapsular cataract

    Directory of Open Access Journals (Sweden)

    Brown CJ

    2015-06-01

    Full Text Available Craig J Brown,1 Faical Akaichi21The Eye Center, Fayetteville, AR, USA; 2Scotland’s Rural College, Edinburgh, UKPurpose: To evaluate risk factors associated with posterior subcapsular cataract (PSC development and the relationship between vitamin D deficiency and etiology of PSC.Methods: Of 195 consecutive patients from a private ophthalmology practice, diagnosed with PSC, serum vitamin D3 (25-OH D levels were obtained for 175, and associations among risk factors, comorbidities, and PSC were assessed.Results: In all 175 PSC patients, mean 25-OH D levels were low (24 ng/mL ±11 SD compared with age/sex-matched standards. Significant differences in 25-OH D levels were noted between PSC subjects taking/not taking calcium supplements, systemic steroids, osteoporosis medications, etc. Alone, smoking status and calcium channel blockers and/or topical steroids use made no significant difference in PSC subjects 25-OH D levels, but two or more of these factors were associated with lowered levels of 25-OH D (P<0.001. Low vitamin D was correlated with female sex, autoimmune disease, and non-skin cancer diagnosis, but not with age, or other comorbidities or medication use. In five early-stage PSC patients taking 5,000 IU of 25-OH D daily for vitamin D deficiency, there was resolution of their cataracts during the 2-year follow-up period.Conclusion: Vitamin D levels for most PSC patients fell below the 30 ng/mL calcium homeostasis threshold. Some comorbidities and non-ophthalmic interventions are associated with the development of PSC at less depressed levels of 25-OH D. In this series, vitamin D deficiency was associated with PSC cataract, suggesting that raising the level of vitamin D intake may reduce PSC incidence.Keywords: posterior subcapsular, cataracts, vitamin D deficiency, risk factors, hypocalcemia, case report

  14. Cataract and its surgery in Fiji.

    Science.gov (United States)

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

    2011-07-01

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

  15. Methylphenidate (Ritalin-associated Cataract and Glaucoma

    Directory of Open Access Journals (Sweden)

    Chao-Kung Lu

    2006-12-01

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

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

    Science.gov (United States)

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

    2012-01-01

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

  17. Principles and paradigms of pediatric cataract management

    Directory of Open Access Journals (Sweden)

    Basti Surendra

    1995-01-01

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

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

    Science.gov (United States)

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

    2015-07-14

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

  19. Theater for Development Methodology in Childhood Cataract Case Finding

    OpenAIRE

    Roseline Ekanem Duke

    2016-01-01

    The key informant methodology for case finding for childhood cataract  was utilized  in a rural population in Nigeria to identify suitable children who would benefit surgically from intervene for cataract and restore vision such children. It was however noticed that some parents who had children with cataract did not bring their children to the primary health center for examination and recommendation. The purpose of this study is to investigate the benefits of using the theatre for developmen...

  20. Elevated Frequency of Cataracts in Birds from Chernobyl

    Science.gov (United States)

    Mousseau, Timothy Alexander; Møller, Anders Pape

    2013-01-01

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

  1. Editorial: Improving cataract outcomes through good postoperative care

    Directory of Open Access Journals (Sweden)

    Nick Astbury

    2016-10-01

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

  2. Elevated frequency of cataracts in birds from chernobyl.

    Directory of Open Access Journals (Sweden)

    Timothy Alexander Mousseau

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

  3. Bilateral matrix-exponential distributions

    DEFF Research Database (Denmark)

    Bladt, Mogens; Esparza, Luz Judith R; Nielsen, Bo Friis

    2012-01-01

    In this article we define the classes of bilateral and multivariate bilateral matrix-exponential distributions. These distributions have support on the entire real space and have rational moment-generating functions. These distributions extend the class of bilateral phasetype distributions of [1]....... As an application we demonstrate that certain multivariate disions, which are governed by the underlying Markov jump process generating a phasetype distribution, have a bilateral matrix-exponential distribution at the time of absorption, see also [4]....

  4. Femtosecond laser assisted cataract surgery followed by coaxial phacoemulsification or microincisional cataract surgery: differences and advantages.

    Science.gov (United States)

    Alio, Jorge L; Soria, Felipe; Abdou, Ahmed A

    2014-01-01

    This review outlines the advantages and the differences of femtosecond laser-assisted cataract surgery (FLACS) following a coaxial or microincision cataract surgery phacoemulsification in the surgical outcome and greater control of cataract surgery. FLACS offers minimal tissue damage and extreme precision during corneal incision creation, continuous circular capsulorhexis (CCC) and nuclear fragmentation. It also allows diminishing the mean average ultrasound power to emulsify the nucleus followed by a coaxial or a biaxial procedure. The impact of reduced phacoemulsification energy on the corneal endothelium is an interesting topic that is being investigated. Despite its benefits, this technology has relevant financial issues and a high learning curve. FemtoMICS appears to be surgically and statistically more efficient than the FemtoCoaxial technique and Femtoincisions prove to be stable and do not change the corneal high order aberration significantly with favorable results of the triplanar configuration.

  5. Bilateral renal calculi

    Science.gov (United States)

    Sreenevasan, G

    1974-01-01

    Bilateral renal calculi were present in 114 (10.7%) of 1,070 cases of proved urinary calculus admitted to the Urological Department of the General Hospital, Kuala Lumpur, during the period November 1968—May 1973. The management of bilateral renal calculi is discussed with reference to the first 100 cases in this series. The introduction of renography has greatly facilitated the decision as to which kidney should be operated on first. The management of patients with and without uraemia is discussed and the use of the modified V and V—Y incisions for the removal of staghorn calculi is described. Complications and results are briefly reviewed. ImagesFig. 1Fig. 4Fig. 6Fig. 7 PMID:4845653

  6. Bilateral tuberculate supernumerary teeth.

    Science.gov (United States)

    Eigbobo, Joycelyn Odegua; Osagbemiro, Babatope Bamidele

    2011-05-16

    Supernumerary teeth are teeth in excess of the normal series occurring in any region of the dental arch. They are located mostly in the anterior maxillary region and are classified according to their location and morphology. The tuberculate type of supernumerary tooth possesses more than one cusp or tubercle (barrel shaped). It is rare to find bilateral tuberculate supernumerary teeth in the premaxillary region and when found they rarely erupt. This report describes a 13-year-old boy with erupted palatally placed bilateral tuberculate supernumerary teeth. The presence of these supernumerary teeth led to the labial displacement and rotations of the anterior maxillary teeth. The treatment involved extraction of the supernumerary teeth and a referral for orthodontic management of the crowding, displacement and rotations. The occurrence of erupted palatally placed tuberculate anterior teeth in this case is a rare experience. However, the associated orthodontic problems are within familiar spectrum.

  7. Bilateral Wilms' tumor

    International Nuclear Information System (INIS)

    Malcolm, A.W.; Jaffe, N.; Folkman, M.J.; Cassady, J.R.

    1980-01-01

    Twenty children with bilateral Wilms' tumor were presented to the Children's Hospital Medical Center and Children's Cancer Research Foundation, Sidney Farber Cancer Institute, and Joint Center for Radiation Therapy (CHMC-CCRF, SFCI, JCRT) from January 1, 1956 to December 31, 1976. Of these 20, 16 had simultaneous and 4 had metachronous disease on presentation. All patients were treated with surgery, radiation and chemotherapy. Of the 16 patients with simultaneous disease, 10 (63%) are alive and free of disease 12+ to 175+ months post diagnosis and treatment, with median follow-up of 121 months. There were no long-term survivors in the metachronous group; all were dead of disease within 21 months from initial presentation of original tumor. With these data we relate prognosis to extent of disease and discuss a general approach to the management of bilateral Wilms' tumor

  8. Bilateral Mandibular Paramolars

    Science.gov (United States)

    Dhull, Rachita Singh; Panda, Swagatika; Acharya, Sonu; Yadav, Shweta; Mohanty, Gatha

    2014-01-01

    ABSTRACT Supernumerary tooth is a developmental anomaly and has been argued to arise from multiple etiologies. These teeth may remain embedded in the alveolar bone or can erupt into the oral cavity. They can cause a variety of complications in the develo­ping dentition. Supernumerary teeth can present in various forms and in any region of the mandible or maxilla, but have a predisposition for the anterior maxilla. Here is the presentation of a case of unusual location of supernumerary teeth located in between mandibular first and second molar region bilaterally. How to cite this article: Dhull KS, Dhull RS, Panda S, Acharya S, Yadav S, Mohanty G. Bilateral Mandibular Paramolars. Int J Clin Pediatr Dent 2014;7(1):40-42. PMID:25206236

  9. Bilateral chronic subdural hematoma

    DEFF Research Database (Denmark)

    Andersen-Ranberg, Nina Christine; Rom Poulsen, Frantz; Bergholt, Bo

    2017-01-01

    OBJECTIVE Bilateral chronic subdural hematoma (bCSDH) is a common neurosurgical condition frequently associated with the need for retreatment. The reason for the high rate of retreatment has not been thoroughly investigated. Thus, the authors focused on determining which independent predictors...... are associated with the retreatment of bCSDH with a focus on surgical laterality. METHODS In a national database of CSDHs (Danish Chronic Subdural Hematoma Study) the authors retrospectively identified all bCSDHs treated in the 4 Danish neurosurgical departments over the 3-year period from 2010 to 2012...... that a separated hematoma density and the absence of postoperative drainage were independent predictors of retreatment. CONCLUSIONS In bCSDHs bilateral surgical intervention significantly lowers the risk of retreatment compared with unilateral intervention and should be considered when choosing a surgical...

  10. Synchronous, bilateral tonsillar carcinomas

    DEFF Research Database (Denmark)

    Saber, Camelia Nami; Grønhøj, Christian; Jensen, David Hebbelstrup

    2017-01-01

    -based, consecutive cohort of OPSCCs. METHODS: We identified all patients diagnosed with tonsillar squamous cell carcinoma (TSCC) in eastern Denmark during a 15-year period to detect the incidence of synchronous BiTSCCs. The tumours were assessed for p16Ink4a expression, the presence of HPV DNA and HPV genotypes....... Furthermore, we systematically reviewed the literature examining BiTSCCs. RESULTS: Of the total of 1119 TSCCs diagnosed in eastern Denmark from 2000 to 2014, we identified 12 BiTSCCs, nine of which initially presented as a cancer of unknown primary (CUP) in the neck. Nine cases were bilaterally HPV16 positive...... (HPV16+), while two cases were HPV16+ in one tonsil and respectively, HPV33 and HPV35 positive in the contralateral tonsil. One case was bilaterally HPV-negative. We also identified an increase in the incidence of BiTSCCs after 2012 when histological examination of the entire tonsil tissue became...

  11. Congenital Complete Tracheal Ring in a Neonate: A Case Report

    Directory of Open Access Journals (Sweden)

    Esra ARUN ÖZER

    2017-09-01

    Full Text Available Abnormalities of the upper airway tract lead to congenital high airway obstruction and may complicate neonatal airway management in the delivery room. Congenital complete tracheal rings are a rare and unusual tracheal anomaly, usually presenting in the neonate or infant as respiratory distress. The clinical presentation can vary from almost asymptomatic patients to near-fatal airway obstruction. It may exist as an isolated entity, or in association with other congenital malformations, in particular, cardiac anomalies along with vascular rings and pulmonary slings. Other associated anomalies have also been reported, for example, chromosomal anomalies, malformation of other parts of the respiratory tract, esophagus and skeletal systems. Here, we report an extreme case of VACTERL/TACRD association presented with congenital complete tracheal ring, encephalocele, bilateral radial agenesis with absent thumbs, equinovalgus deformity on right foot, low-set ears and micrognathia.

  12. Spontaneous dislocation of lens bag with acrylic lens after uneventful cataract surgery ? unusual complication of cataract surgery

    OpenAIRE

    Shah, Mehul A.; Shah, Shreya M.; Mehta, Ruchir; Shah, Prerna

    2015-01-01

    Introduction: Spontaneous dislocation of intraocular lens with bag is rare.Methods: We report a case of a 56-year-old male who presented with spontaneous anterior dislocation of an in-the-bag intraocular lens 3 years after manual small incision cataract surgery. He had undergone manual small incision cataract surgery with foldable acrylic intraocular lens implantation, and 18 months after cataract surgery ND: YAG capsulotomy with uneventful post capsulotomy follow-up. 17 months after capsul...

  13. Melanopsin-Mediated Acute Light Responses Measured in Winter and in Summer: Seasonal Variations in Adults with and without Cataracts

    Directory of Open Access Journals (Sweden)

    Mirjam Münch

    2017-09-01

    Full Text Available Seasonal adaptation is a ubiquitous behavior seen in many species on both global hemispheres and is conveyed by changing photoperiods. In humans this seasonal adaptation is less apparent, in part because changes in daylength are masked by the use of electrical lighting at night. On the other hand, cataracts which reduce light transmission, may compound seasonal changes related to the reduced daylength of winter. To better understand the effects of different photoperiod lengths in healthy adults without and with cataracts, we tested their melanopsin-mediated light responses in summer vs. winter. Fifty-two participants (mean age 67.4 years; 30 with bilateral cataracts and 22 age-matched controls with clear lenses; pseudophakes were tested twice, once in summer and once in winter. At each test session we assessed the electroretinogram and pupil responses during daytime and we determined melatonin suppression, subjective sleepiness and mood in response to light exposure in the evening. Circadian rest-activity cycles and sleep from activity recordings were also analyzed for both seasons. Both groups had similar visual function. There were no seasonal differences in the electroretinogram. For the pupil responses to bright blue light, the post-illumination pupil response (PIPR was greater in winter than summer in pseudophakes, but not in cataract participants, whereas melatonin suppression to acute light exposure showed no differences between both groups and seasons. Overall, intra-daily variability of rest-activity was worse in winter but participants felt sleepier and reported worse mood at the laboratory in evening time in the summer. Those with cataracts had poorer sleep quality with lower sleep efficiency, and higher activity during sleep in winter than summer. In this study, the PIPR showed a seasonal variation in which a larger response was found during winter. This variation was only detected in participants with a clear intraocular lens. In

  14. Delayed bilateral fibrinous anterior chamber reaction following autologous bone marrow transplant and cataract surgery

    Directory of Open Access Journals (Sweden)

    Shaheen C. Kavoussi

    2016-07-01

    Conclusions and Importance: With a negative work-up for infectious etiologies, and the timing and clinical presentation, the patient's inflammation was likely the result of rapid white blood cell count recovery following iatrogenic immunosuppression similar to the mechanism described for IRU.

  15. Congenital absence of the vas deferens and unilateral renal agenesis: implications for patient and family.

    Science.gov (United States)

    Lane, Victoria Alison; Scammell, Simon; West, Noreen; Murthi, Govind V

    2014-07-01

    At routine groin surgery in male paediatric patients occasionally the vas deferens may be absent. This finding usually leads to investigations to establish the status of the contralateral vas deferens and the status of the kidneys. It is not uncommon to find either an ipsilateral renal agenesis or congenital bilateral absence of the vas deferens. The latter finding prompts a test for cystic fibrosis. We report three patients who upon investigation were found to have the rare combination of congenital bilateral absence of the vas deferens and unilateral renal agenesis, and discuss the possible embryological basis, the clinical management and the long-term implications of these findings. We present three patients who were incidentally found to have absence of the vas deferens whilst undergoing elective groin surgery and following further tests were diagnosed with congenital bilateral absence of the vas deferens and unilateral renal agenesis. The case notes were reviewed, together with the results of radiological investigations, cystic fibrosis screening and the status of the contralateral vas deferens. All three patients were found to have congenital bilateral absence of the vas deferens, unilateral renal agenesis and were not found to have cystic fibrosis. The combination of congenital bilateral absence of the vas deferens and unilateral renal agenesis, without cystic fibrosis, is rare and not reported previously in the paediatric literature. These findings require appropriate counselling of the parents and child, with regards to the long-term implications of infertility and renal function.

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

    Directory of Open Access Journals (Sweden)

    Aminatul Fitria

    2017-02-01

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

  17. Congenital Synechia and Syngnathia: Two Case Reports.

    Science.gov (United States)

    Khan, Mohammad Nazir; Ibrahim, Muhammad Wasim; Niazi, Kausar Khan

    2018-02-01

    This case report presents two cases of rare congenital malformation, i.e syngnathia. First case is of 2-day infant with bilateral fusion of maxilla and mandible, leaving a small anterior portion. After consultation with other concerned specialties, early intervention was planned and fusion was released to facilitate feeding. The infant suffered from frequent respiratory tract infections and subsequently died at the age of ten months. The second case is of 8-month baby girl with unilateral congenital maxillomandibular bony fusion without any other anomaly. She underwent general anesthesia for thorough examination and release of soft tissue union. Second surgery was performed after few months for removal of bony fusion. Good mouth opening was seen on 1 month follow-up.

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

    International Nuclear Information System (INIS)

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

    2014-01-01

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

  19. Prune belly syndrome associated with bilateral multicystic dysplastic kidneys and urethral obstruction: A case report

    Directory of Open Access Journals (Sweden)

    Arzu Akdag

    2015-06-01

    Full Text Available Prune belly syndrome is a rare congenital disorder defined by a characteristic clinical triad: Abdominal muscle deficiency, severe urinary tract abnormalities, and bilateral cryptorchidism. We describe a preterm neonate of Prune Belly syndrome who had abdominal muscle deficiency, multicystic dysplastic kidney, urethral hypoplasia and pulmonary hypoplasia. We presented this rare case with the data gathered from the literatüre.

  20. Bilateral macrodystrophia lipomatosa of the upper extremities with syndactyly and multiple lipomas

    NARCIS (Netherlands)

    van der Meer, Saskia; Nicolai, Jean-Philippe A.; Schut, Simone M.; Meek, Marcel F.

    2011-01-01

    Macrodystrophia lipomatosa is a rare disease that causes congenital local gigantism of part of an extremity, which is characterised by an increase in all mesenchymal elements, particularly fibroadipose tissue. This is the first report to our knowledge of a case of histologically confirmed bilateral

  1. Congenital club foot in a teaching hospital in Lagos, Nigeria.

    Science.gov (United States)

    Adewole, O A; Giwa, S O; Kayode, M O; Shoga, M O; Balogun, R A

    2009-06-01

    Congenital club foot has been sparsely reported in literature in Nigeria, although it has been reported as the commonest congenital musculoskeletal abnormality. This study enumerates the point prevalence of this disease in a university teaching hospital in Lagos. Better understanding of the epidemiology in our community should improve awareness, and influence management. Between June 2005 and July 2006, 72 consecutive patients with congenital club feet were seen in the orthopaedic clinic of our Hospital. Demographic data, birth weight, family history, birth facility, maternal age and associated congenital anomalies were recorded and analysed using Statistical Programme for Social Sciences (SPSS) version 15. A total of 72 patients were seen, 28 of whom had bilateral club feet resulting in a total of 100 feet. There were 38 males and 34 females. Only 29% presented in the first month of life and 28% in the second month. Maternal ages ranged between 19 and 38 years and no family history of congenital club foot was given,. Babies delivered outside the orthodox medical system (churches, traditional healers, home etc) constituted 28%. The commonest associated congenital anomalies were tibia hemimelia, hydrocephalus, inguinal hernia and umbilical hernia. A default rate of 28% was observed during treatment. Congenital club foot may not be uncommon in Nigeria. Late presentation and high default rate before correction of the deformity were observed. Establishment of special club foot clinics should reduce the default rate. Training of healthcare workers in maternity units as well as Public awareness should encourage early referral to specialists.

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

    Directory of Open Access Journals (Sweden)

    Yu-Feng Wu

    2014-09-01

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

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

    Science.gov (United States)

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

    2015-01-01

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

  4. Scrotoschisis: A rare congenital urologic anomaly

    Directory of Open Access Journals (Sweden)

    Aliyu Umar Farinyaro

    2015-02-01

    Full Text Available Scrotoschisis is a congenital extrusion of the testis through a defect in the scrotum. The condition is extremely rare, with only a few cases reported in the literature. We present 2 full term neonates one of whom had bilateral and the other right scrotoschisis and a contralateral communicating hydrocele. They presented at the ages of 7 and 22 days, as referral from rural health centers. They both had successful repair. Testes were in the scrotum after 1 year and 6 months follow-up, respectively. Long term follows up and further evaluations are, therefore, required.

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

    Directory of Open Access Journals (Sweden)

    Rajkumari Bigyabati

    2016-06-01

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

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

    African Journals Online (AJOL)

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

  7. Cataract Extraction With Intraocular Lens Implant: Early Experience ...

    African Journals Online (AJOL)

    -surgery was good (>/= 6/18.) confirming that Cataract surgery with IOL implant is safe and effective in restoring vision to the cataract blind in this part of the world. Most of the cases of postoperative astigmatism were corrected with refraction.

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

    African Journals Online (AJOL)

    2010-02-08

    Feb 8, 2010 ... (74.1%), effective primary eye care- 25 (92.6%) and marketing of cataract surgical services- 23 (85.2%). However, only 16 ... gouvernement local (74.1%), 20 efficace principal Eye Care 25 (92.6%), et 23 (85.2%), services de marketing de la cataracte .... attractive rural allowance (10-20% of basic salary).

  9. a comparative study between manual small incision cataract surgery ...

    African Journals Online (AJOL)

    ... October 2012 to October 2014 for cataract surgery were followed up for 6 weeks after surgery. They were divided into two groups based on the type of surgical procedure opted by the patients. Group A consisted of 50 patients who underwent Manual Small Incision Cataract. Surgery with rigid Polymethyl Methacrylate IOL ...

  10. Poor cataract surgical output: Eye care workers perspective in north ...

    African Journals Online (AJOL)

    2012-01-25

    Jan 25, 2012 ... Background: Cataract remains a disease of priority being the leading cause of blindness globally. Although surgically curable, cataract surgical output has remained low in Nigeria, Kwara state inclusive. A study was carried out to investigate the perception of eye care workers (ECW) on low surgical output ...

  11. Barriers to up take cataract surgery in Gandaki Zone, Nepal.

    Science.gov (United States)

    Sapkota, Y D; Pokharel, G P; Dulal, S; Byanju, R N; Maharjan, I M

    2004-01-01

    Cataract though avoidable remains as leading cause of blindness in Nepal. Though, Himalaya Eye Hospital rendering high quality surgical service through its base hospital and out reach service in Gandaki Zone having cataract surgical rate is below 1500 per million. Therefore, it is mater of interest to investigate the reason and the finding would be helpful to plan the future cataract programme to CSR to desirable level, if we know the reason(s) that forced them living as blind in community and not seeking available surgical services. All person with cataract affecting their visual acuity to financial 24.1% and other clinical reason were found to be 12% as a reason for not seeking available surgical service. The cataract service marketing, eye health education disseminating the information on cataract and its curability is not found to be adequate. Therefore, the future cataract programme should give more concentration on creating awareness on cataract and subsidizing the available surgical service and service need to be brought to more proximity for the needy poor people.

  12. Rapid assessment of cataract surgical coverage in rural Zululand ...

    African Journals Online (AJOL)

    562 old-age pensioners. Method. Subjects found to be ?lind (visual acuity < 3/60) and those reporting a history of eye surgery were examined using a torch and direct ophthalmoscop~by an ophthalmologist. Outcome measures. Cases of blindness due to operable cataract and post-cataract surgical subjects were identified.

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

    Science.gov (United States)

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

    2016-01-01

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

  14. Cataract surgery in patients with pseudoexfoliation syndrome: current updates

    OpenAIRE

    Fontana,Luigi; Coassin,Marco; Iovieno,Alfonso; Moramarco,Antonio; Cimino,Luca

    2017-01-01

    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 ...

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

    African Journals Online (AJOL)

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

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

    African Journals Online (AJOL)

    2016-12-13

    Dec 13, 2016 ... 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 ... Correlation was assessed among subjective VF, QoL, and visual acuity (VA). The preoperative ..... Financial support and sponsorship. The study was ...

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

    African Journals Online (AJOL)

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

  18. Outcomes of Cataract Surgery Following Treatment for Retinoblastoma.

    Science.gov (United States)

    Kim, Hyeong Min; Lee, Byung Joo; Kim, Jeong Hun; Yu, Young Suk

    2017-02-01

    To evaluate the long-term visual outcomes and complications of cataract surgery in eyes previously treated for retinoblastoma. We reviewed the medical records of patients who underwent cataract extraction and intraocular lens implantation at Seoul National University Children's Hospital for a secondary cataract that developed after retinoblastoma treatment. During the period between 1990 and 2014, 208 eyes of 147 patients received eye-salvaging treatment (radiotherapy, chemotherapy, and local therapy) for retinoblastoma at Seoul National University Children's Hospital. Among these eyes, a secondary cataract was detected in 17 eyes of 14 patients, and five eyes of five patients underwent cataract surgery. The median age of cataract formation was 97 months (range, 38 to 153 months). The medial interval between the diagnosis of retinoblastoma and cataract formation was 79 months (range, 29 to 140 months). All patients received posterior chamber intraocular lens insertion after irrigation and aspiration of the lens through a scleral tunnel incision. Anterior vitrectomy and posterior capsulotomy were performed in two eyes and a laser capsulotomy was subsequently performed in one eye. No intraoperative and postoperative complications occurred. The median follow-up after surgery was 36 months (range, 14 to 47 months). The final best corrected visual acuities were improved in all five eyes. No intraocular tumor recurrences or metastases occurred. After retinoblastoma regression, cataract extraction in our series was not associated with tumor recurrence or metastasis. Visual improvement was noted in every patient.

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

    Science.gov (United States)

    Slagor, Rebekka Michaelsen; La Cour, Morten; Bonde, Jens Peter

    2016-09-01

    There are indications that solar ultraviolet radiation (UVR) increases the risk of cataract, but there is only circumstantial evidence that metal welding, an important occupational source of UVR exposure, is a risk factor. The objective of this study is to unravel if metal welding increases the risk of cataract. 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, information on welding was collected from questionnaires and, for both cohorts, information about cataract diagnosis and operation was gathered from Danish national registers. Using Cox regression analysis, the hazard ratio (HR) for cataract diagnosis and/or operation was calculated in the follow-up period adjusted for baseline data regarding age, diabetes, and social group. 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) 0.95-1.21] and the adjusted HR was 1.08 (95% CI 0.95-1.22). Age and diabetes were as expected strong risk factors. 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.

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

    African Journals Online (AJOL)

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

  1. related cataract in the rural areas of South Africa

    African Journals Online (AJOL)

    Objectives. The Bureau for the Prevention of Blindness is responsible for the provision of cataract surgery to the rural indigent population of South Africa. It is important for the Bureau to know both the prevalence and the incidence of cataract blindness in the population. Design, setting and subjects. Blindness prevalence.

  2. Meeting the need for childhood cataract surgical services in ...

    African Journals Online (AJOL)

    Background: Cataract has emerged as the most important cause of blindness in children worldwide, and has been one of the priorities of VISION 2020, the global initiative to eliminate avoidable blindness by 2020. More than 2500 children are estimated to be blind from cataract in Madagascar. The aim of this study was to ...

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

    Science.gov (United States)

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

    2016-02-01

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

  4. Internal wave structures in abyssal cataract flows

    Science.gov (United States)

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

    2014-05-01

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

  5. Genetics Home Reference: congenital hypothyroidism

    Science.gov (United States)

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

  6. Cataract extraction after brachytherapy for malignant melanoma of the choroid

    International Nuclear Information System (INIS)

    Fish, G.E.; Jost, B.F.; Snyder, W.I.; Fuller, D.G.; Birch, D.G.

    1991-01-01

    Thirteen eyes of 55 consecutive patients treated with brachytherapy for malignant melanoma of the choroid developed postirradiation cataracts. Cataract development was more common in older patients and in patients with larger and more anterior tumors. Eleven eyes had extracapsular cataract extraction and intraocular lens implantation. Initial visual improvement occurred in 91% of eyes, with an average improvement of 5.5 lines. Visual acuity was maintained at 20/60 or better in 55% of the eyes over an average period of follow-up of 24 months (range, 6 to 40 months). These data suggest that, visually, cataract extraction can be helpful in selected patients who develop a cataract after brachytherapy for malignant melanoma of the choroid

  7. Mitochondrial disorders in congenital myopathies

    Directory of Open Access Journals (Sweden)

    D. A. Kharlamov

    2014-01-01

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

  8. Congenital deformity of the distal extremities in three dogs

    Directory of Open Access Journals (Sweden)

    F. Di Dona

    2016-11-01

    Full Text Available Congenital limb deformities are very rare conditions and the knowledge about etiology, pathogenesis, clinical presentation and treatment is still poor. Moreover, many defects are still not reported in veterinary literature. This report documents clinical and radiographic findings in three dogs with congenital deformity involving the distal extremities. Case 1 was affected with bilateral aphalangia of the pedes, case 2 presented a combination of brachydactyly and syndactyly, whereas in case 3 a unilateral ectrodactyly was observed. To the authors’ knowledge, brachydactyly, as well as aphalangia, are very uncommon anomalies and have been rarely documented. Moreover, association between syndactyly and brachydactyly has still not been reported.

  9. Cataract in Latin America: findings from nine recent surveys.

    Science.gov (United States)

    Limburg, Hans; Silva, Juan C; Foster, Allen

    2009-05-01

    To review recent data on blindness and low vision due to cataract in Latin America. Presentation of findings from population-based prevalence surveys conducted between 1999 and 2006 in nine Latin American countries covering 30,544 people aged 50 years and older. Prevalence of cataract blindness in people 50 years and older ranged from 0.5% in Buenos Aires to 2.3% in four provinces of Guatemala. Low vision from cataract ranged from 0.9% in Buenos Aires to 10.7% in Piura and Tumbes Districts in Peru. Cataract surgical coverage (CSC) was good in Campinas, Brazil; low in Paraguay, Peru, and Guatemala; and moderate in the other areas. Good visual outcome after cataract surgery nearly conformed to World Health Organization (WHO) guidelines in Buenos Aires (more than 80% of operated eyes able to see 20/60 or better), but ranged from 60% to 79% in most of the other settings, and was less than 60% in Guatemala and Peru. "Unaware that treatment is possible," "contraindications," "cannot afford," and "fear of operation" were the most common explanations for failure to come forward for surgery. In Campinas, Brazil, cataract is fairly well controlled. In Buenos Aires, the visual outcomes after cataract surgery nearly meet WHO standards. In most countries in Latin America, however, cataract intervention needs to be intensified and visual outcome improved. Reducing the costs of cataract surgery and providing effective health education and adequate program management are essential to combat the expected increase in visual impairment due to cataract in the region.

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

    Science.gov (United States)

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

    2012-06-01

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

  11. Looking the Cow in the Eye: Deletion in the NID1 Gene Is Associated with Recessive Inherited Cataract in Romagnola Cattle

    Science.gov (United States)

    Murgiano, Leonardo; Jagannathan, Vidhya; Calderoni, Valerio; Joechler, Monika; Gentile, Arcangelo; Drögemüller, Cord

    2014-01-01

    Cataract is a known condition leading to opacification of the eye lens causing partial or total blindness. Mutations are known to cause autosomal dominant or recessive inherited forms of cataracts in humans, mice, rats, guinea pigs and dogs. The use of large-sized animal models instead of those using mice for the study of this condition has been discussed due to the small size of rodent lenses. Four juvenile-onset cases of bilateral incomplete immature nuclear cataract were recently observed in Romagnola cattle. Pedigree analysis suggested a monogenic autosomal recessive inheritance. In addition to the cataract, one of the cases displayed abnormal head movements. Genome-wide association and homozygosity mapping and subsequent whole genome sequencing of a single case identified two perfectly associated sequence variants in a critical interval of 7.2 Mb on cattle chromosome 28: a missense point mutation located in an uncharacterized locus and an 855 bp deletion across the exon 19/intron 19 border of the bovine nidogen 1 (NID1) gene (c.3579_3604+829del). RT-PCR showed that NID1 is expressed in bovine lenses while the transcript of the second locus was absent. The NID1 deletion leads to the skipping of exon 19 during transcription and is therefore predicted to cause a frameshift and premature stop codon (p.1164fs27X). The truncated protein lacks a C-terminal domain essential for binding with matrix assembly complexes. Nidogen 1 deficient mice show neurological abnormalities and highly irregular crystal lens alterations. This study adds NID1 to the list of candidate genes for inherited cataract in humans and is the first report of a naturally occurring mutation leading to non-syndromic catarct in cattle provides a potential large animal model for human cataract. PMID:25347398

  12. Fuchs Heterochromic Iridocylitis: Clinical Characteristics and Outcome of Cataract Extraction with Intra Ocular Lens Implantation in a Kashmiri Population- A Hospital Based Study

    Science.gov (United States)

    Lone, Imtiyaz; Mir, Adil Majid; Rashid, Aamir; Latif, Mehreen

    2016-01-01

    Introduction Fuchs Heterochromic Iridocylitis (FHI) is a rare form of uveitis which is frequently complicated by cataract and glaucoma, but it does not show typical features of uveitis like pain, redness and posterior synechia. Aim To study the clinical characteristics and outcome of cataract extraction with Intra Ocular Lens (IOL) implantation in patients with FHI. Materials and Methods The present prospective study was carried out in the Postgraduate Department of Ophthalmology, Sher-i-Kashmir Institute of Medical Sciences (SKIMS), Bemina from March 2012 to January 2015. The study included 33 eyes of 32 patients of FHI who underwent thorough clinical examination and cataract surgery with IOL implantation and were evaluated based on their visual outcome and intra and post-operative complications. Post-operative follow-up was done on 1st day, one week, one month, two month, six month and at twelve months. Results Mean age of our study group was 33.9 years (Range 18 to 65 years). No male or female preponderance was seen. There was bilateral involvement of eyes in only one case. Cataract and stellate keratic precipitates were present in all cases whereas, heterochromia was present in only six eyes (18.75%). Best Corrected Visual Acuity (BCVA) showed a significant improvement following cataract surgery (p 6/12). Most common causes of decreased vision post-operatively were vitreous opacities in nine eyes (27.27%) followed by glaucoma in eight eyes (24.24%) and posterior capsular opacification in six eyes (18.18%). Conclusion Cataract extraction with IOL lens implantation in FHI is a safe procedure associated with good visual prognosis and few complications. However, glaucoma is one of the main concerns and should be closely monitored both pre and post-operatively. PMID:28208900

  13. FTL c.-168G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian Family.

    Science.gov (United States)

    Ferro, Elisa; Capra, Anna Paola; Zirilli, Giuseppina; Meduri, Alessandro; Urso, Mario; Briuglia, Silvana; La Rosa, Maria Angela

    2018-01-01

    We describe a new Italian family with 7 members affected by hereditary hyperferritinemia cataract syndrome (HHCS), an uncommon autosomal dominant disease caused by mutations of the iron-responsive element (IRE) of the ferritin light chain (FTL) gene determining its overexpression. The family diagnosis of HHCS took place after finding high ferritin levels in a 6-year-old girl. Seven members of the family had bilateral and symmetrical cataracts, normal iron, and hematological parameters except for high serum ferritin levels. About 160 families/unrelated cases with HHCS are known worldwide. This report documents a second Italian family, with a c.-168G>C mutation that is located in the highly conserved 3-nucleotide bulge structure of the FTL in the 5' untranslated region. This case shows how important the family history is in reaching a correct diagnosis and avoiding unnecessary and invasive analysis. HHCS should be considered in the differential diagnosis of childhood hyperferritinemia, especially in the presence of normal transferrin saturation.

  14. MR imaging appearance of laryngeal atresia (congenital high airway obstruction syndrome): unique course in a fetus

    Energy Technology Data Exchange (ETDEWEB)

    Kuwashima, Shigeko; Kitajima, Kazuhiro; Kaji, Yasushi [Dokkyo Medical University, Department of Radiology, Mibu, Shimotsuga-gun, Tochigi (Japan); Watanabe, Hiroshi [Dokkyo Medical University, Department of Obstetrics and Gynecology, Mibu (Japan); Watabe, Yoshiyuki; Suzumura, Hiroshi [Dokkyo Medical University, Department of Pediatrics, Mibu (Japan)

    2008-03-15

    Congenital high airway obstruction syndrome (CHAOS) is a rare life-threatening syndrome. Most cases are diagnosed prenatally by US. We report a fetus with this syndrome that showed a unique course revealed on MRI. Ultrasonography at 22 weeks demonstrated that the fetus had ascites and bilaterally enlarged hyperechoic lungs. Congenital infection, congenital cystic adenomatoid malformation or CHAOS was suspected. Subsequent MRI performed at 24 weeks demonstrated bilaterally enlarged high-signal lungs, dilated bronchi, massive ascites, subcutaneous oedema and polyhydramnios. MRI confirmed the diagnosis of CHAOS. A second MRI at 35 weeks showed that the bilateral lung enlargement, ascites, oedema and polyhydramnios had resolved, but that the appearance of the airway was unchanged. The infant was delivered by caesarean section at 38 weeks of gestation and immediate tracheostomy was performed. This spontaneous regression was explained by a tracheo-oesophageal fistula that may have decreased the intrathoracic pressure. (orig.)

  15. MR imaging appearance of laryngeal atresia (congenital high airway obstruction syndrome): unique course in a fetus

    International Nuclear Information System (INIS)

    Kuwashima, Shigeko; Kitajima, Kazuhiro; Kaji, Yasushi; Watanabe, Hiroshi; Watabe, Yoshiyuki; Suzumura, Hiroshi

    2008-01-01

    Congenital high airway obstruction syndrome (CHAOS) is a rare life-threatening syndrome. Most cases are diagnosed prenatally by US. We report a fetus with this syndrome that showed a unique course revealed on MRI. Ultrasonography at 22 weeks demonstrated that the fetus had ascites and bilaterally enlarged hyperechoic lungs. Congenital infection, congenital cystic adenomatoid malformation or CHAOS was suspected. Subsequent MRI performed at 24 weeks demonstrated bilaterally enlarged high-signal lungs, dilated bronchi, massive ascites, subcutaneous oedema and polyhydramnios. MRI confirmed the diagnosis of CHAOS. A second MRI at 35 weeks showed that the bilateral lung enlargement, ascites, oedema and polyhydramnios had resolved, but that the appearance of the airway was unchanged. The infant was delivered by caesarean section at 38 weeks of gestation and immediate tracheostomy was performed. This spontaneous regression was explained by a tracheo-oesophageal fistula that may have decreased the intrathoracic pressure. (orig.)

  16. Bilateral spontaneous carotid artery dissection.

    Science.gov (United States)

    Townend, Bradley Scott; Traves, Laura; Crimmins, Denis

    2005-06-01

    Bilateral internal carotid artery dissections have been reported, but spontaneous bilateral dissections are rare. Internal carotid artery dissection can present with a spectrum of symptoms ranging from headache to completed stroke. Two cases of spontaneous bilateral carotid artery dissection are presented, one with headache and minimal symptoms and the other with a stroke syndrome. No cause could be found in either case, making the dissections completely spontaneous. Bilateral internal carotid artery dissection (ICAD) should be considered in young patients with unexplained head and neck pain with or without focal neurological symptoms and signs. The increasing availability of imaging would sustain the higher index of suspicion.

  17. Nitrofurantoin and congenital abnormalities

    DEFF Research Database (Denmark)

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

    2001-01-01

    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...

  18. Congenital heat disease

    International Nuclear Information System (INIS)

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

    1990-01-01

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

  19. Bilateral Antepartum Mastitis

    Directory of Open Access Journals (Sweden)

    Peyman Alibeigi

    2010-12-01

    Full Text Available Antepartum mastitis is a rare condition, whereas postpartum orlactation mastitis is a common problem. This report introducesa case of complicated bilateral antepartum mastitis, which wastreated successfully by drain insertion and antibiotic therapy.The patient was a 23-year-old woman in the 23rd week of herfirst pregnancy. Her chief complaint was progressive swelling,redness and radicular pain in both breasts, which had beenstarted gradually from the 18th week of pregnancy. The patientwas admitted to hospital, and received oral and intravenous antibioticsempirically, which was not effective. The patient wastreated by drainage and oral antibiotic therapy. Based on theapproaches employed and the outcomes achieved it is suggestedthat early surgical insertion in the presence of fluid collection inantepartum mastitis will shorten hospitalization and course ofintravenous antibiotic therapy.Iran J Med Sci 2010; 35(4: 327-330.

  20. Idiopathic Bilateral Bloody Tearing

    Directory of Open Access Journals (Sweden)

    Emrullah Beyazyıldız

    2015-01-01

    Full Text Available Bloody tear is a rare and distinct clinic phenomenon. We report a case presenting with the complaint of recurrent episodes of bilateral bloody tearing. A 16-year-old girl presented to our clinic with complaint of bloody tearing in both eyes for 3 months. Bloody tearing was not associated with her menses. A blood-stained discharge from the punctum was not observed during the compression of both nasolacrimal ducts. Nasolacrimal passage was not obstructed. Imaging studies such as dacryocystography and gradient-echo magnetic resonance imaging (MRI of nasolacrimal canal were normal. Intranasal endoscopic evaluation was normal. We collected samples from bloody tears two times and pathological examination was performed. Pathological analysis showed lots of squamous cells and no endometrial cells; dysplastic cells were found. Further evaluations for underlying causes were unremarkable. No abnormalities were found in ophthalmologic, radiologic, and pathologic investigations. This condition is likely a rare abnormality and the least recognized aetiology for the idiopathic phenomenon.

  1. Prospective multicenter trial of a small-aperture intraocular lens in cataract surgery.

    Science.gov (United States)

    Dick, H Burkhard; Piovella, Matteo; Vukich, John; Vilupuru, Srividhya; Lin, Ling

    2017-07-01

    To evaluate the clinical acceptability of monocular implantation of the small-aperture (IC-8) intraocular lens (IOL) in 1 eye and an aspheric monofocal IOL in the fellow eye of bilateral cataract patients over 6 months postoperatively. Twelve clinics in Austria, Belgium, Germany, Italy, Spain, and Norway. Prospective case series. The visual acuity, depth of focus, contrast sensitivity, patient satisfaction, visual symptoms, and adverse events were assessed in patients who had bilateral cataract surgery followed by implantation of the small-aperture IOL in 1 eye and an aspheric monofocal IOL in the fellow eye. Uncorrected distance (UDVA), intermediate (UIVA), and near (UNVA) visual acuities were reported in Snellen notation. The study comprised 105 patients. At 6 months, the UDVA, UIVA, and UNVA in eyes with the small-aperture IOL were 20/23, 20/24, and 20/30, respectively. Ninety-nine percent, 95%, and 79% of patients achieved 20/32 or better binocular UDVA, UIVA, and UNVA, respectively. Ninety-three patients (95.9%) reported they would have the procedure again versus 4 patients (4.1%) who reported they would not have the procedure again. In eyes with the small-aperture IOL, the target-corrected defocus curve measured with 0.75 diopter (D) of myopia extended the range of functional near vision by an additional diopter without loss of distance vision compared with the distance-corrected defocus curves. The mean UIVA and UNVA remained at 20/25 and 20/32, respectively, for up to 1.5 D of residual astigmatism in eyes with the small-aperture IOL. The small-aperture IOL showed excellent visual performance, safety, patient satisfaction, and tolerance to residual astigmatism 6 months after implantation. Copyright © 2017 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

  2. The Effect of Cataract on Eye Movement Perimetry

    Directory of Open Access Journals (Sweden)

    G. Thepass

    2015-01-01

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

  3. Evaluation of the macula prior to cataract surgery.

    Science.gov (United States)

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

    2018-01-01

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

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

    International Nuclear Information System (INIS)

    Snezana, Milacic

    2008-01-01

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

  5. Persistent Hyperprolactinemia and Bilateral Galactocele in a Male Infant

    Directory of Open Access Journals (Sweden)

    Casti Tiziana

    2009-02-01

    Full Text Available Galactocele is a benign breast lesion, usually occurring in nursing women. This lesion is a rare cause of breast enlargement in children. In this paper we describe the case of an infant with hyperprolactinemia (which persisted throughout 15 years of clinical observation and bilateral galactocele. We speculate that a congenital midline defect in our patient might have impaired the normal dopaminergic inhibitory tone on pituitary lactotroph cells, thus leading to an increased prolactin secretion by the pituitary gland; this, in turn, might have favored the development of the galactocele.

  6. Unexpected potential protective associations between outdoor air pollution and cataracts.

    Science.gov (United States)

    Choi, Yoon-Hyeong; Park, Su Jin; Paik, Hae Jung; Kim, Mee Kum; Wee, Won Ryang; Kim, Dong Hyun

    2018-02-01

    Air pollution is one of the biggest public health issues, and the eye is continuously exposed to multiple outdoor air pollution. However, to date, no large-scale study has assessed the relationship between air pollutants and cataracts. We investigated associations between outdoor air pollution and cataracts in the Korean population. A population-based cross-sectional study was performed using data from the Korea National Health and Nutrition Examination Survey, including 18,622 adults more than 40 years of age. The presence of cataracts and their subtypes were evaluated by ophthalmologists. Air pollution data (levels of particulate matter, ozone, nitrogen dioxide, and sulfur dioxide) for the 2 years prior to the ocular examinations were collected from national monitoring stations. The associations of multiple air pollutants with cataracts were assessed by multivariate logistic regression analyses. Sociodemographic factors and previously known risk factors for cataracts were controlled as covariates (model 1 included sociodemographic factors, sun exposure, and behavioral factors, while model 2 further included clinical factors). Higher ozone concentrations were protectively associated with overall cataract which included all subtypes [single pollutant model: 0.003 ppm increase-model 1 (OR 0.89, p = 0.014), model 2 (OR 0.87, p = 0.011); multi-pollutant model: 0.003 ppm increase-model 1 (OR 0.80, p = 0.002), model 2 (OR 0.87, p = 0.002)]. Especially, higher ozone concentrations showed deeply protective association with nuclear cataract subtype [0.003 ppm increase-single pollutant model: model 2 (OR 0.84, p = 0.006), multi-pollutant model: model 2 (OR 0.73, p < 0.001)]. Higher tropospheric ozone concentrations showed protective associations with overall cataract and nuclear cataract subtype in the Korean population.

  7. Treatment of Class II subdivision malocclusion with congenitally missing upper lateral incisors: A case report

    Directory of Open Access Journals (Sweden)

    Siddharth Mehta

    2014-01-01

    Full Text Available Orthodontic treatment for patients with unilateral or bilateral congenitally missing lateral incisor poses a challenge mainly with regard to treatment planning. The use of a diagnostic setup is one of the most important aids in the decision-making process. Two alternatives, orthodontic space closure or space opening for prosthetic replacement exist. The present case report shows use of the microimplant for unilateral upper molar distalization and space closure in a Class-II division 1 subdivision malocclusion case with bilateral congenitally missing upper lateral incisors.

  8. Congenital cutis laxa with rectal and uterovaginal prolapse

    Directory of Open Access Journals (Sweden)

    Sanjiv V Choudhary

    2011-01-01

    Full Text Available A two-month-old female infant born of a consanguineous marriage, presented with loose, wrinkled and inelastic skin over the neck, axillae, trunk, inguinal region and thighs with slow elastic recoil. Patient also had systemic manifestations in the form of bilateral apical lobe consolidation of lung, bilateral inguinal hernia, rectal and uterovaginal prolapse. Histopathological examination of skin biopsy with special stain for elastic tissue revealed absence of dermal elastic tissue. Genital abnormalities in patients with congenital cutis laxa have been reported rarely. But rectal and uterovaginal prolapse have not been reported at an early age of two months. In the absence of mutational screening, with history and clinical findings our case is likely to be Type I autosomal recessive form of congenital cutis laxa.

  9. Mondini defect in association with multiple congenital anomalies.

    Science.gov (United States)

    Sekhar, H K; Sachs, M

    1976-01-01

    A case of bilaterally symmetrical genetic aplasia conforming to Mondini type of congenital deformity in a 12-day-old child is presented with the help of temporal bone sections. Cochlear changes include a stunted modiolus, deficient interscalar septum between the middle and upper coils forming a scala communis cochleae, a degenerated organ of Corti and reduced spiral ganglion cells and dendrites. The vestibule is malformed, with membranous labyrinth being deficient. The utricle and semicircular canals are absent. There is no oval window or stapedial footplate, and the facial nerve is hypoplastic. An interesting feature is the unusual association of bilateral bony choanal atresia, atrial septal defect, cleft lip, absence of olfactory bulbs in the brain, and congenital ophthalmic anomalies.

  10. INTRAOCULAR CORRECTION OF PRESBYOPIA BY MONOVISION IN PATIENTS WITH CATARACT AND CORNEAL ASTIGMATISM

    Directory of Open Access Journals (Sweden)

    E. I. Belikova

    2017-01-01

    Full Text Available Purpose: To evaluate the results of intraocular correction of presbyopia by monovision in patients with cataract and primary corneal astigmatism and conduct a comparative analysis of these outcomes with the results of binocular multifocal IOLs implantation. Patients and methods. There were 21 patients with bilateral cataract surgery performed using toric monofocal intraocular lenses (monovision group in the study. The indications for the operation were: 1 primary corneal astigmatism ≥ 1.0D in patients with cataract, 2 inability to conduct excimer laser correction. Reduction of spectacle dependence by monovision was discussed during preoperative conversation. The age of patients range from 32 to 65 years. Target refraction: Emetronopia on the dominant eye (DG and myopia at 1.0–2.0 D in the non-dominant eye (NDG. Evaluation included measurement of uncorrected visual acuity, refraction, stereopsis, contrast sensitivity and patient satisfaction. The results were compared with the outcomes of binocular multifocal Iols implantation in 22 patients (44 eyes. Results. The spherical component decreased from 3.39±2.63D to 0.34±0.24D, cylinder decreased from 3.05±1.47D to 0.44±0,35D (P <0.01 in the monovision group three months after surgery . The deviation from target refraction was 0.30±0.35D. The mean difference between postoperative refraction on the two eyes was 1.92±0.57D. Postoperative corrected visual acuity significantly exceeded preoperative parameters. In 18 patients (88% the stereoscopic visual acuity did not exceed 60 seconds and corresponded to the age norm, in 3 patients (12% it was at the level of 80–100 arc seconds. In patients with multifocal IOLs, the stereovision values were identical (Ferrer-Blasco T. et al, 2008. Conclusion. The monovision is an effective method of reducing dependence on additional correction in patients with cataract and corneal astigmatism. Refractive outcomes, binocular visual acuity, predictability and

  11. [The progress of studies on intraocular lens implantation in cataract with high myopia].

    Science.gov (United States)

    Liu, Xue; Wan, Xiuhua

    2015-07-01

    With development of the technology of cataract surgery, combined phacoemulsification and intraocular lens implantation in cataract with high myopia has been widely carried out in clinical treatment. Due to the particularity of high myopia, phacoemulsification in patients with cataract and high myopia is difficult and has recently received a lot of attentions. In this paper, preoperative examinations, the selection of intraocular lenses, surgery methods and surgical complications of cataract surgery in patients with cataract and high myopia are briefly reviewed.

  12. Bilateral hematoma of sternocleidomastoid muscles. A case presentation. Hematoma bilateral de los músculos esternocleidomastoideos. Presentación de un caso.

    OpenAIRE

    José Julio Requeiro Molina; Zoe Quintero Delgado

    2005-01-01

    Presentation of the case of an infant with bilateral congenital torticollis which development was followed by ultrasound. Homeopathy and physiotherapy were used for its treatment. This is an infrequent disease scarcely reported in medical literature. Se reporta el caso de un lactante con una tortícolis congénita bilateral, que fue seguida evolutivamente por ultrasonido y para el tratamiento se utilizó homeopatía y fisioterapia. Esta es una afección poco común, y reportada con poca frecuencia ...

  13. Recent status on femtosecond laser-assisted cataract surgery

    Directory of Open Access Journals (Sweden)

    Xiao-Ming Wang

    2014-05-01

    Full Text Available Femtosecond laser-assisted cataract surgery performs the anterior capsulotomy, lens fragmentation, corneal incisions making and astigmatic limbal relaxing incision with femtosecond laser, which effectively reduces the complications of conventional phacoemulsification surgery and improves the postoperative visual quality of patients. It further improves the technology and effect of cataract surgery and has broad clinical application prospects. This paper compares pros and cons as well as the clinical values of femtosecond laser-assisted cataract surgery with conventional phacoemulsification surgery based on the overview of published articles.

  14. Unilateral, Isolated, Paediatric Lightning-Induced Cataract: A Case Report

    Directory of Open Access Journals (Sweden)

    G. J. Rogers

    2011-01-01

    Full Text Available A six-year-old girl presented with gradual loss of vision in the left eye a year after sustaining a lightning strike while in her home. Examination revealed healed burns to her cheek, left arm, and right leg and a dense left cataract. There was no evidence of other ocular sequelae, and her right eye was normal. Cataract surgery and lens implantation were performed on the left eye with good results. Isolated, unilateral, paediatric cataract due to lightning is discussed.

  15. Cataract in a patient with the Alport syndrome and diffuse Leiomyomatosis Catarata em paciente com sindrome de alport e leiomiomatose difusa

    Directory of Open Access Journals (Sweden)

    Luis Santiago - Cabán

    2008-12-01

    Full Text Available We describe a case of painless progressive loss of vision in a 15 years old male patient with Alport syndrome and diffuse Leiomyomatosis. After a comprehensive history and ocular examination, a diagnosis of bilateral posterior subcapsular cataracts was given. Patient underwent cataract extraction. His best corrected post-operative visual acuity was 20/25 in both eyes. We conclude that posterior subcapsular cataracts may lead to painless and progressive loss of vision in patients with Alport syndrome and Diffuse Leiomyomatosis.Nós descrevemos o caso de perda visual progressiva indolor em um paciente de 15 anos, sexo masculino, com Síndrome de Alport e Leiomiomatose difusa. Após história completa e exame oftalmológico, foi feito o diagnóstico de catarata subcapsular posterior bilateral. O paciente foi submetido à cirurgia de catarata. Nós concluímos que cataratas subcapsulares posteriores podem levar a perda visual progressiva e indolor em pacientes com Síndrome de Alport e Leiomiomatose Difusa.

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

    Science.gov (United States)

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

    2011-10-01

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

  17. Ethical Considerations Concerning Amnioinfusions for Treating Fetal Bilateral Renal Agenesis.

    Science.gov (United States)

    Sugarman, Jeremy; Anderson, Jean; Baschat, Ahmet A; Herrera Beutler, Jaime; Bienstock, Jessica L; Bunchman, Timothy E; Desai, Niraj M; Gates, Elena; Goldberg, Aviva; Grimm, Paul C; Henry, Leslie Meltzer; Jelin, Eric B; Johnson, Emily; Hertenstein, Christine B; Mastroianni, Anna C; Mercurio, Mark R; Neu, Alicia; Nogee, Lawrence M; Polzin, William J; Ralston, Steven J; Ramus, Ronald M; Singleton, Megan Kasimatis; Somers, Michael J G; Wang, Karen C; Boss, Renee

    2018-01-01

    Congenital bilateral renal agenesis has been considered a uniformly fatal condition. However, the report of using serial amnioinfusions followed by the live birth in 2012 and ongoing survival of a child with bilateral renal agenesis has generated hope, but also considerable controversy over an array of complex clinical and ethical concerns. To assess the ethical concerns associated with using serial amnioinfusions for bilateral renal agenesis, we assembled a multidisciplinary group to map the ethical issues relevant to this novel intervention. The key ethical issues identified were related to 1) potential risks and benefits, 2) clinical care compared with innovation compared with research, 3) counseling of expectant parents, 4) consent, 5) outcome measures, 6) access and justice, 7) conflicts of interest, 8) effects on clinicians, 9) effects on institutions, and 10) long-term societal implications. These ethical issues should be addressed in conjunction with systematic efforts to examine whether this intervention is safe and effective. Future work should capture the experiences of expectant parents, women who undergo serial amnioinfusions, those born with bilateral renal agenesis and their families as well as clinicians confronted with making difficult choices related to it.

  18. Prevalence of lens opacity at Queen Elizabeth Central Hospital in ...

    African Journals Online (AJOL)

    Laterality is reported probably for the first time in Central Africa - bilateral cataracts being more common than unilateral ones, and the leading cause of cataracts in adults was senility whereas congenital cataracts were commoner in children. The prevalence increased with age, males being affected more than females.

  19. Corneal sensation after cataract and refractive surgery.

    Science.gov (United States)

    Kohlhaas, M

    1998-10-01

    Most surgical procedures involving the anterior segment of the eye disrupt the normal organization of corneal innervation. Since denervation of the cornea results in impaired epithelial wound healing, increased epithelial permeability, decreased epithelial metabolic activity, and loss of cytoskeletal structures associated with cellular adhesion, it is important to identify the factors that determine the extent of neural regeneration. Mechanisms of corneal nerve damage and studies of corneal nerve fiber loss and reinnervation after cataract and refractive surgery--epikeratophakia, cryokeratomileusis, keratomileusis in situ, photorefractive keratectomy, laser in situ keratomileusis, and phacoemulsification--are reviewed and the decrease in corneal sensitivity, as a measure of corneal destruction and corneal metabolism, after these surgical procedures is compared.

  20. Congenital glaucoma as an ophthalmic manifestation of Frank-Ter Haar syndrome.

    Science.gov (United States)

    Aktas, Zeynep; Karaca, Emine Esra; Dogan, Nurcan; Çakmak, Tugba; Unlu, Metin; Tok, Levent; Hasanreisoglu, Murat

    2014-04-01

    We report on a patient with Frank-Ter Haar syndrome that is associated with high intraocular pressures. A 21-day-old male patient was referred to our clinic for surgical treatment of congenital glaucoma. On ophthalmic examination, he had buphthalmos, mild corneal edema and high IOP readings in both eyes. The patient underwent uneventful trabeculotomy surgery, bilaterally. Marked bilateral anterior iris insertion was noted during the surgery. Childhood glaucoma may be associated with Frank-Ter Haar syndrome.

  1. Quiste dermoide corneal bilateral

    Directory of Open Access Journals (Sweden)

    Michel Guerra Almaguer

    Full Text Available El dermoide es un tipo de coristoma (tejido embrionario normal en una localización anormal que afecta con frecuencia la córnea. Aparece como una masa sólida, blanca, redonda y elevada. Suele localizarse en el limbo inferotemporal, aunque puede hacerlo en cualquier lugar del globo ocular o de la órbita. Se presenta un paciente masculino, de 8 años de edad, quien desde su nacimiento muestra una mancha blanca en ambos ojos, agudeza visual sin corrección de movimiento de mano a 33 centímetros en el ojo derecho y percepción luminosa en el ojo izquierdo. En la exploración oftalmológica de ambos ojos se apreciaron lesiones blanquecinas sobre la córnea. Se le realizó exéresis del quiste y queratoplastia lamelar de ambos ojos, con resultados visuales satisfactorios. Se concluye que el caso presenta un quiste dermoide corneal bilateral.

  2. The Tear Osmolarity Changes After Cataract Surgery

    Directory of Open Access Journals (Sweden)

    Banu Öncel

    2012-01-01

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

  3. Surgical treatment of congenital hallux varus.

    Science.gov (United States)

    Shim, Jong Sup; Lim, Tae Kang; Koh, Kyoung Hwan; Lee, Do Kyung

    2014-06-01

    The purpose of this study was to report outcomes of congenital hallux varus deformity after surgical treatment. We evaluated ten feet of eight patients with a congenital hallux varus deformity, including four feet combined with a longitudinal epiphyseal bracket (LEB). There were seven male patients and one female patient with a mean age of 33 months (range, 7 to 103 months) at the time of surgery. Two patients were bilaterally involved. The mean duration of follow-up was 5.9 years (range, 2.3 to 13.8 years). Clinical outcomes were assessed according to the criteria of Phelps and Grogan. Surgical procedures included the Farmer procedure, the McElvenny procedure or an osteotomy at the first metatarsal or proximal phalanx. The clinical results were excellent in two feet, good in six and poor in two feet. The LEB was associated with hallux varus in four feet and were treated by osteotomy alone or in conjunction with soft tissue procedure. Congenital hallux varus was successfully corrected by surgery with overall favorable outcome. Preoperatively, a LEB should be considered as a possible cause of the deformity in order to prevent recurrent or residual varus after surgery.

  4. Intelligence Quotient (IQ) in Congenital Strabismus*

    Science.gov (United States)

    Bagheri, Abbas; Fallahi, Mohammad Reza; Tamannaifard, Shima; Vajebmonfared, Sara; Zonozian, Saideh

    2013-01-01

    Purpose To evaluate intelligence quotient (IQ) in patients with congenital strabismus. Methods All patients with congenital strabismus scheduled for surgery were enrolled consecutively over a one year period in a cross-sectional study and were evaluated for verbal, performance and total IQ scores, and compared to the mean normal IQ of 100±15. Results During the study period, 109 patients with mean age of 18.4±10.5 (range, 4-63) years were included. Educational status in most patients (80%) was less than high-school. Most patients (80%) lived in urban areas and 46 patients (42.2%) had some degrees of unilateral or bilateral amblyopia. Mean verbal IQ was 87.2±19.6 (range, 45-127), performance IQ was 81±15.5 (range, 44-111) and total IQ was 83.5±18.3 (range, 40-120). Total IQ was significantly lower in comparison to the normal population (P0.05 for all comparisons). Conclusion Patients with congenital strabismus in this study had lower mean IQ scores than the normal population which may be due to genetic background or acquired causes secondary to strabismus. PMID:23943689

  5. CONGENITAL MYOTONIC DYSTROPHY – CASE REPORT

    Directory of Open Access Journals (Sweden)

    David Neubauer

    2001-07-01

    Full Text Available Background. Myotonic dystrophy is inherited as an autosomal dominant trait. It is characterized by myotonia, myopathy of voluntary and involuntary muscles, frontal baldness in men, cardiac conduction abnormalities, catharacts, intellectual deterioration and endocrinopathy. Men with this disorder have often gonadal atrophy and infertility. On the other hand women are generally fertile. During pregnancy their myopathy worsens, often causing severe obstetrical complications. Their children may develop congenital form of the disease with signs of myopathy in utero and have great difficulties in maintaining life functions after birth, together with other characteristical signs of this form: bilateral facial weakness, severe hypotonia, feeding difficulties, talipes equinovarus and mental retardation. The authors present a female newborn with such congenital form of myotonic dystrophy.Conclusions. The authors have emphasized the importance of medical history, regular updating of all the cases of neuromuscular diseases in the region and clinical characteristics for the recognition of congenital form of myotonic dystrophy because of possible prenatal diagnostics and better antenatal and postantal care.

  6. Intelligence Quotient (IQ) in Congenital Strabismus.

    Science.gov (United States)

    Bagheri, Abbas; Fallahi, Mohammad Reza; Tamannaifard, Shima; Vajebmonfared, Sara; Zonozian, Saideh

    2013-04-01

    To evaluate intelligence quotient (IQ) in patients with congenital strabismus. All patients with congenital strabismus scheduled for surgery were enrolled consecutively over a one year period in a cross-sectional study and were evaluated for verbal, performance and total IQ scores, and compared to the mean normal IQ of 100±15. During the study period, 109 patients with mean age of 18.4±10.5 (range, 4-63) years were included. Educational status in most patients (80%) was less than high-school. Most patients (80%) lived in urban areas and 46 patients (42.2%) had some degrees of unilateral or bilateral amblyopia. Mean verbal IQ was 87.2±19.6 (range, 45-127), performance IQ was 81±15.5 (range, 44-111) and total IQ was 83.5±18.3 (range, 40-120). Total IQ was significantly lower in comparison to the normal population (PIQ levels. Verbal IQ was insignificantly higher in myopes than emmetropes and hyperopes. IQ was better with vertical deviations and was higher in esotropes than exotropes; however, these differences were not statistically significant (P>0.05 for all comparisons). Patients with congenital strabismus in this study had lower mean IQ scores than the normal population which may be due to genetic background or acquired causes secondary to strabismus.

  7. Multifocal versus monofocal intraocular lenses after cataract extraction

    Directory of Open Access Journals (Sweden)

    Daniel Calladine

    Full Text Available BACKGROUND: Good unaided distance visual acuity is now a realistic expectation following cataract surgery and intraocular lens (IOL implantation. Near vision, however, still requires additional refractive power, usually in the form of reading glasses. Multiple optic (multifocal IOLs are available which claim to allow good vision at a range of distances. It is unclear whether this benefit outweighs the optical compromises inherent in multifocal IOLs. OBJECTIVES: The objective of this review was to assess the effects of multifocal IOLs, including effects on visual acuity, subjective visual satisfaction, spectacle dependence, glare and contrast sensitivity, compared to standard monofocal lenses in people undergoing cataract surgery. METHODS: Search methods: We searched CENTRAL (which contains the Cochrane Eyes and Vision Group Trials Register, The Cochrane Library 2012, Issue 2, MEDLINE (January 1946 to March 2012, EMBASE (January 1980 to March 2012, 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. We did not use any date or language restrictions in the electronic searches for trials. The electronic databases were last searched on 6 March 2012. We searched the reference lists of relevant articles and contacted investigators of included studies and manufacturers of multifocal IOLs for information about additional published and unpublished studies. Selection criteria: All randomised controlled trials comparing a multifocal IOL of any type with a monofocal IOL as control were included. Both unilateral and bilateral implantation trials were included. Data collection and analysis: Two authors collected data and assessed trial quality. Where possible, we pooled data from the individual studies using a random-effects model, otherwise we tabulated data. MAIN RESULTS: Sixteen completed trials

  8. CONGENITAL ANOMALIES OF THE KIDNEYS AND URINARY TRACT IN CHILDREN

    Directory of Open Access Journals (Sweden)

    Matjaž Kopač

    2015-03-01

    Full Text Available Congenital anomalies of the kidney and urinary tract are the commonest congenital anomalies in children, often detected prenatally with ultrasound. This method is useful for assesing the degree of dilatation of the collecting system, structure of the kidney parenchyma, amount of amniotic fluid and urinary bladder. Hydronephrosis is the most common among them. Anomalies can be bilateral or unilateral and different defects may coexist in an individual child. Anomalies of other organs and organ systems are often associated with anomalies of the kidneys and urinary tract, described in numerous syndromes. Congenital anomalies of the kidney and urinary tract can be divided in anomalies of the renal parencyma development, renal embryonic migration and position, cystic kidney diseases and anomalies of the urinary tract (collecting system of the kidneys, ureters, urinary bladder and urethra. They are the commonest cause of end-stage renal disease in children.

  9. Intraocular lenses for the treatment of age-related cataracts: an evidence-based analysis.

    Science.gov (United States)

    2009-01-01

    The objective of the report is to examine the comparative effectiveness and cost-effectiveness of various intraocular lenses (IOLs) for the treatment of age-related cataracts. TARGET POPULATION AND CONDITION A cataract is a hardening and clouding of the normally transparent crystalline lens that may result in a progressive loss of vision depending on its size, location and density. The condition is typically bilateral, seriously compromises visual acuity and contrast sensitivity and increases glare. Cataracts can also affect people at any age, however, they usually occur as a part of the natural aging process. The occurrence of cataracts increases with age from about 12% at age 50 years, to 60% at age 70. In general, approximately 50% of people 65 year of age or older have cataracts. Mild cataracts can be treated with a change in prescription glasses, while more serious symptoms are treated by surgical removal of the cataract and implantation of an IOL. In Ontario, the estimated prevalence of cataracts increased from 697,000 in 1992 to 947,000 in 2004 (35.9% increase, 2.4% annual increase). The number of cataract surgeries per 1,000 individuals at risk of cataract increased from 64.6 in 1992 to 140.4 in 1997 (61.9% increase, 10.1% annual increase) and continued to steadily increase to 115.7 in 2004 (10.7% increase, 5.2% increase per year). IOLs are classified either as monofocal, multifocal, or accommodative. Traditionally, monofocal (i.e.. fixed focusing power) IOLs are available as replacement lenses but their implantation can cause a loss of the eye's accommodative capability (which allows variable focusing). Patients thus usually require eyeglasses after surgery for reading and near vision tasks. Multifocal IOLs aim to improve near and distant vision and obviate the need for glasses. Potential disadvantages include reduced contrast sensitivity, halos around lights and glare. Accommodating IOLs are designed to move with ciliary body contraction during

  10. Six year Trend in Cataract Surgical Techniques in Iran

    Science.gov (United States)

    Hashemi, Hassan; Alipour, Fatemeh; Mehravaran, Shiva; Rezvan, Farhad; Alaeddini, Farshid; Fotouhi, Akbar

    2011-01-01

    Purpose To determine the cataract surgery techniques performed in Iran from 2000 to 2005. Materials and Methods This study was part of the Iranian Cataract Surgery Survey (ICSS) which was a retrospective cross-sectional study. All major ocular surgery units and 10% of randomly selected minor units throughout Iran were included. Excluding the 2 week Iranian New Year holiday, 1 week per season between 2000 and 2005 (a total of 24 weeks) was selected for each center, and data on all cataract surgeries performed during these weeks were collected by reviewing patient records. The ANOVA repeated measure test was performed to determine longitudinal changes with a P0.05). Conclusion Phacoemulsification with IOL implantation has become the preferred cataract surgery method in Iran during recent years. PMID:21731326

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

    Science.gov (United States)

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

    2018-01-01

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

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

    Science.gov (United States)

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

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

    DEFF Research Database (Denmark)

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

    2016-01-01

    Objectives: There are indications that solar ultraviolet radiation (UVR) increases the risk of cataract, but there is only circumstantial evidence that metal welding, an important occupational source of UVR exposure, is a risk factor. The objective of this study is to unravel if metal welding...... 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.......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....

  14. Congenital Ocular Motor Apraxia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-06-01

    Full Text Available The clinical and neuroradiological findings, and long-term intellectual prognosis in 10 patients (4 boys and 6 girls with congenital ocular motor apraxia (COMA are reviewed by researchers at Tottori University, Yonago, Japan.

  15. Congenital pulmonary vein stenosis.

    Science.gov (United States)

    Manzar, Shabih

    2007-06-01

    A case of a newborn infant is described who presented with severe cyanosis at birth with rapid deterioration. The infant died at six hours of life. The diagnosis was determined at autopsy as congenital pulmonary vein stenosis.

  16. Congenital anterior urethral diverticulum

    International Nuclear Information System (INIS)

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

    1985-01-01

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

  17. Congenital orbital teratoma

    Directory of Open Access Journals (Sweden)

    Shereen Aiyub

    2013-01-01

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

  18. Giant congenital nevus

    Science.gov (United States)

    ... nevus; Giant hairy nevus; Giant pigmented nevus; Bathing trunk nevus; Congenital melanocytic nevus - large ... the spine) Involvement of the membranes of the brain and spinal cord when the nevus affects a ...

  19. Identification of congenital deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    For many reasons an accurate and straightforward identification of congenital deafblindness can be difficult. This article reports on the assessment procedures and experience in Denmark where medical examinations were combined with functional assessments performed through direct observation. The ...

  20. Randomised, single-masked non-inferiority trial of femtosecond laser-assisted versus manual phacoemulsification cataract surgery for adults with visually significant cataract : the FACT trial protocol

    NARCIS (Netherlands)

    Day, Alexander C; Burr, Jennifer M; Bunce, Catey; Doré, Caroline J; Sylvestre, Yvonne; Wormald, Richard P L; Round, Jeff; McCudden, Victoria; Rubin, Gary; Wilkins, Mark R; Schilder, Anne|info:eu-repo/dai/nl/09110906X

    2015-01-01

    INTRODUCTION: Cataract is one of the leading causes of low vision in the westernised world, and cataract surgery is one of the most commonly performed operations. Laser platforms for cataract surgery are now available, the anticipated advantages of which are broad and may include better visual

  1. Choroidal metastasis from renal cell carcinoma presenting with cataract

    International Nuclear Information System (INIS)

    Shoaib, K.K.; Haq, I.; Zafar, N.

    2008-01-01

    We report a case of rare involvement of the eye with choroidal metastasis from renal cell carcinoma presenting 08 years after the primary tumor was removed. The patient initially presented with cataract most probably induced by the tumor. After cataract extraction, tumor was detected when it induced vitreous involvement and retinal detachment. Enucleation was performed and an extraocular mass was also excised. Histopathology confirmed the diagnosis of metastasis from renal cell carcinoma in the ocular tumor, extraocular mass and the vitreous. (author)

  2. Congenital chylous ascites

    International Nuclear Information System (INIS)

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

    2011-01-01

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

  3. Congenital laryngeal anomalies,

    OpenAIRE

    Rutter, Michael J.

    2014-01-01

    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 ma...

  4. Congenital gluteus maximus contracture.

    Science.gov (United States)

    Ganel, A; Blankstein, A

    1989-01-01

    Muscle contractures are infrequent in Israel. This report discusses one case of a congenital contracture associated with a skin dimple treated in Israel. A 3-year-old boy presented with difficulty in running, riding a bicycle, and squatting. Flexion of the right hip in adduction was impossible. The hip could be fully flexed in abduction. Congenital contracture of the right gluteus maximus muscle was successfully treated by surgical release.

  5. 11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report

    DEFF Research Database (Denmark)

    Almind, Gitte J; Brøndum-Nielsen, Karen; Bangsgaard, Regitze

    2009-01-01

    ABSTRACT: WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract......, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face. Cytogenetic analysis showed a deletion on 11p that was further characterized using FISH and MLPA analyses. The deletion (11p13-p12) located in the area between the deletions associated with the WAGR and Potocki-Shaffer syndromes had...... a maximum size of 8.5 Mb and encompasses 44 genes. Deletion of WT1 explains the genital abnormalities observed. As PAX6 was intact the cataract observed cannot be explained by a deletion of this gene. Seizures have been described in Potocki-Shaffer syndrome while mental retardation has been described...

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

    Directory of Open Access Journals (Sweden)

    Fernando Facio

    2010-10-01

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

  7. Anaesthetic considerations in a prematurely born infant with ...

    African Journals Online (AJOL)

    Conditions such as congenital bilateral cataract and congenital hypothyroidism may be associated with other birth defects and syndromes. Recommendations for early cataract surgery may necessitate anaesthetising premature infants with postconceptional ages less than 60 weeks, or those who have had recently ...

  8. Associated congenital anomalies among cases with Down syndrome.

    Science.gov (United States)

    Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule

    2015-12-01

    Down syndrome (DS) is the most common congenital anomaly widely studied for at least 150 years. However, the type and the frequency of congenital anomalies associated with DS are still controversial. Despite prenatal diagnosis and elective termination of pregnancy for fetal anomalies, in Europe, from 2008 to 2012 the live birth prevalence of DS per 10,000 was 10. 2. The objectives of this study were to examine the major congenital anomalies occurring in infants and fetuses with Down syndrome. The material for this study came from 402,532 consecutive pregnancies of known outcome registered by our registry of congenital anomalies between 1979 and 2008. Four hundred sixty seven (64%) out of the 728 cases with DS registered had at least one major associated congenital anomaly. The most common associated anomalies were cardiac anomalies, 323 cases (44%), followed by digestive system anomalies, 42 cases (6%), musculoskeletal system anomalies, 35 cases (5%), urinary system anomalies, 28 cases (4%), respiratory system anomalies, 13 cases (2%), and other system anomalies, 26 cases (3.6%). Among the cases with DS with congenital heart defects, the most common cardiac anomaly was atrioventricular septal defect (30%) followed by atrial septum defect (25%), ventricular septal defect (22%), patent ductus arteriosus (5%), coarctation of aorta (5%), and tetralogy of Fallot (3%). Among the cases with DS with a digestive system anomaly recorded, duodenal atresia (67%), Hirschsprung disease (14%), and tracheo-esophageal atresia (10%) were the most common. Fourteen (2%) of the cases with DS had an obstructive anomaly of the renal pelvis, including hydronephrosis. The other most common anomalies associated with cases with DS were syndactyly, club foot, polydactyly, limb reduction, cataract, hydrocephaly, cleft palate, hypospadias and diaphragmatic hernia. Many studies to assess the anomalies associated with DS have reported various results. There is no agreement in the literature as to

  9. Results of a prospective surgical audit of bilateral paediatric cochlear implantation in the UK.

    Science.gov (United States)

    Broomfield, Stephen J; Murphy, John; Wild, Dominik C; Emmett, Stevan R; O'Donoghue, Gerard M

    2014-09-01

    Since being approved in 2009, bilateral simultaneous cochlear implantation (CI) has been the standard treatment for children in the UK who meet the criteria for CI. The aim was to report surgical outcomes of bilateral CI in the UK. Between January 2010 and December 2011, 14 UK CI centres collected data prospectively: demographics, aetiology, use of imaging, device type, surgery duration, use of intra-operative electrophysiology, length of stay, and post-operative complications. 1397 CI procedures in 961 CI recipients were included; 436 bilateral simultaneous, 394 bilateral sequential, and 131 unilateral. The majority (85%) were congenitally deaf. The commonest causes of acquired deafness were meningitis and cytomegalovirus infection. The median age for congenitally deaf bilateral simultaneous CI was 2.2 years, mean surgical duration 4.5 hours. 6.3% surgeries were day case procedures. Eight cases (2.0%) of planned bilateral CI had unilateral surgery. The overall major complication rate was 1.6% (0.9% excluding device failures), including explantation due to infection (0.2%), cerebrospinal fluid leak (0.2%), and meningitis (0.1%). There were no permanent facial nerve palsies and no deaths. Sixty-two (6.5%) immediate minor complications included 12 (1.3%) children with significant vestibular impairment. The complication rate was similar following bilateral CI compared to sequential and unilateral CI, and is comparable to other published series. This prospective multi-centre audit provides evidence that bilateral paediatric CI is a safe procedure in the UK, thus endorsing its role as a major therapeutic intervention in childhood deafness.

  10. Cortical thickness in a case of congenital unilateral perisylvian syndrome.

    Science.gov (United States)

    Kotini, A; Camposano, S; Hara, K; Salat, D; Cole, A; Stufflebeam, S; Halgren, E

    2004-11-30

    In congenital perisylvian syndrome, there is polymicrogyric cortex distributed in variable extensions around the sylvian fissure. Unilateral cases usually present with congenital hemiparesis, while bilateral cases have pseudobulbar paralysis of the oropharingoglossal region. Both unilateral and bilateral cases have a high rate of epilepsy. Polymicrogyric cortex is characterized by too many small convolutions. Often there are no intervening sulci, and almost no white matter can be seen under them. On MRI they appear to have increased thickness. Bilateral and symmetric polimycrogiria can be hard to recognize on standard MRIs. Accurate and automated methods for measuring the thickness of cerebral cortex are available. They have mainly been used to study a variety of disorders with diminished cortical thickness. We studied a case of right perisylvian polymicrogyria, who presented in adult life with epilepsy and had a normal neurological exam. Fischl and Dale's automated cortical thickness analysis rendered a very clear picture of increased cortical thickness with values up to 9 mm in the affected areas (normal cortical thickness varies between 1 and 4.5 mm). The thickest areas were seen over grossly abnormal gyri on the reconstructed cerebral cortex. On MEG he presented a prominent and monotonous 9 Hz activity that was located within the limits of a thick gyrus. There was a significant difference of thickness between homologous hemispheric areas. To our surprise some areas of the left hemisphere also appeared to have increased thickness, raising the question of a bilateral asymmetric case.

  11. Bilateral internal laryngoceles mimicking asthma

    Directory of Open Access Journals (Sweden)

    Elif A Aksoy

    2013-01-01

    Full Text Available Laryngocele is an air-filled, abnormal dilation of the laryngeal saccule that extends upward within the false vocal fold, in communication with the laryngeal lumen. A case of 43-year-old male with bilateral internal laryngoceles, who has been treated as asthma for 4 years, is presented. The patient had dyspnea, cough, and excessive phlegm for a month and a late onset stridor. Flexible nasopharyngolaryngoscopy showed bilateral cystic enlargements of the false vocal folds and true vocal folds could not be visualized. Laryngeal CT without contrast enhancement showed bilateral internal laryngoceles. Submucosal total excision of bilateral cystic masses including parts of false vocal folds was performed. The symptoms resolved immediately after surgery. Although the incidence of internal laryngocele is rare, it should be remembered in the differential diagnosis of upper airway problems and diagnostic flexible nasopharnygolaryngoscopy is routinely indicated for airway evaluation in at-risk patients.

  12. Bilateral Olecranon Tophaceous Gout Bursitis

    Directory of Open Access Journals (Sweden)

    Güzelali Özdemir

    2017-01-01

    Full Text Available In this case, we present a patient with the diagnosis of bilateral olecranon tophaceous gout. After the surgical treatment, there was no limitation of range of motion or wound problem at 6th month control.

  13. Bilateral papillary renal cell carcinoma

    International Nuclear Information System (INIS)

    Gossios, K.; Vazakas, P.; Argyropoulou, M.; Stefanaki, S.; Stavropoulos, N.E.

    2001-01-01

    Papillary renal cell carcinoma is a subgroup of malignant renal epithelial neoplasms. We report the clinical and imaging findings of a case with multifocal and bilateral renal cell carcinoma which are nonspecific. (orig.)

  14. Bilateral, atraumatic, proximal tibiofibular joint instability.

    Science.gov (United States)

    Morrison, Troy D; Shaer, James A; Little, Jill E

    2011-01-01

    Dislocation of the tibiofibular joint is rare and usually results from a traumatic event. Only 1 case of atraumatic proximal tibiofibular joint instability in a 14-year-old girl has been reported in the literature, however this condition might occur more frequently than once thought. A wide range of treatment options exist for tibiofibular dislocations. Currently, the first choice is a conservative approach, and when this fails, surgical means such as resection of the fibula head, arthrodesis, and reconstruction are considered. However, no consensus exists on the most effective treatment. This article reports a unique case of bilateral, atraumatic, proximal tibia and fibular joint instability involving a 30-year-old man with a 20-year history of pain and laxity in the right knee. The patient had no trauma to his knees; he reported 2 immediate family members with similar complaints, which suggests that this case is likely congenital. After conservative approaches proved to be ineffective, the patient underwent capsular reconstruction using free autologous gracilis tendon. At 6-month postoperative follow-up, the patient was pain free with no locking and instability. He then underwent surgery on the left knee. At 1-year follow-up after the second surgery, the patient had no symptoms or restrictions in mobility. We provide an alternative surgical approach to arthrodesis and resection for the treatment of chronic proximal tibiofibular instability. In the treatment of chronic tibiofibular instability, we believe that reconstruction of the tibiofibular joint is a safe and effective choice. Copyright 2011, SLACK Incorporated.

  15. Simultaneous bilateral patellar tendon rupture ?

    OpenAIRE

    Moura, Diogo Lino; Marques, Jos? Pedro; Lucas, Francisco Manuel; Fonseca, Fernando Pereira

    2016-01-01

    Bilateral patellar tendon rupture is a rare entity, often associated with systemic diseases and patellar tendinopathy. The authors report a rare case of a 34-year-old man with simultaneous bilateral rupture of the patellar tendon caused by minor trauma. The patient is a retired basketball player with no past complaints of chronic knee pain and a history of steroid use. Surgical management consisted in primary end-to-end tendon repair protected temporarily with cerclage wiring, followed by a s...

  16. Vestibuler rehabilitation in bilateral vestibulopaty

    OpenAIRE

    Onur Armağan

    2017-01-01

    Bilateral vestibulopathy is a heterogeneous chronic condition characterized by a bilateral reduced or absent function of the vestibular organs, the vestibular nerves or a combination of both. The vestibular system plays a crucial role in the multisensory control of balance. When vestibular function is lost, essential tasks such as postural control, gaze stabilization, and balance deteriorate and the quality of life of patients is significantly impaired. Nowadays the widely available treatment...

  17. Bilateral Symmetrical Parietal Extradural Hematoma

    OpenAIRE

    Agrawal, Amit

    2011-01-01

    The occurrence of bilateral extradural hematomas (EDH) is an uncommon consequence of craniocerebral trauma, and acute symmetrical bilateral epidural hematomas are extremely rare. We discuss the technique adopted by us for the management of this rare entity. A 55-year-old patient presented with history of fall of branch of tree on her head. She had loss of consciousness since then and had multiple episodes of vomiting. Examination of the scalp was suggestive of diffuse subgaleal hematoma. Her ...

  18. Assessment of the effect of cyclosporine-A 0.05% emulsion on the ocular surface and corneal sensation following cataract surgery.

    Science.gov (United States)

    Hamada, Samer; Moore, Tara C B; Moore, Jonathan E; Al-Dreihi, Madonna G; Anbari, Anas; Shah, Sunil

    2016-02-01

    To assess the effect of cyclosporine-A (CsA) 0.05% ophthalmic emulsion on corneal sensation and ocular surface problems following cataract surgery. Prospective, randomized, double masked clinical trial. Consecutive case series of patients attending for bilateral cataract surgery. Subject's eyes were randomized to receive either topical CsA or carboxymethylcellulose 0.5% (CMC) eye drops twice daily for one month following routine cataract surgery. Subjective and objective assessments were performed pre-operatively, one week, and one month after surgery. Primary safety parameters included best spectacle-corrected visual acuity and incidence of adverse events. Objective assessments included tests of tear film (osmolarity, tear break-up time, and Schirmer's type-I test), ocular surface staining, corneal sensitivity and a subjective assessment: ocular surface disease index (OSDI) questionnaire. 30 subjects (60 eyes) were recruited. At one month following cataract surgery, osmolarity, ocular surface staining, TBUT, Schirmer's results showed a greater improvement after CsA drops compared to CMC and this was statistically significant for all measures (psensation measurements were reduced after one week and one month. Eyes receiving CsA had higher recovery of corneal sensation at both time points post operatively and this was statistically significant at one month. OSDI questionnaire results did not show a statistically significant difference between the two eyes. CsA is effective and safe in the management of ocular surface problems after cataract surgery and allows faster recovery of corneal sensation. This recovery of sensation may be relevant to the improvement in ocular surface problems in all patients. Copyright © 2015 Elsevier Ltd. All rights reserved.

  19. Investigation of cataract surgery in Leshan, Sichuan Province

    Directory of Open Access Journals (Sweden)

    Yu Han

    2014-08-01

    Full Text Available AIM: To comprehensively investigate the current status of cataract surgery in Leshan city, and find the existing problems according to the survey results as a guide to cataract prevention and treatment in future. METHODS: We surveyed the status of cataract surgery containing equipments, surgeons and surgery conditions in 17 ophthalmology departments of general hospitals from Leshan including 6 counties, 1 county-level city and 4 districts during 2012. Cataract surgery methods, according to various surgery financial resources, surgical performances and surgical incision, were divided into phacoemulsification and intraocular lens implantation(Phaco+IOL, extracapsular cataract extraction and intraocular lens implantation(ECCE+IOL, and each method contained 2 groups. We analyzed the outcomes following preoperative examination, surgeons, surgical methods, surgical equipments, types of IOL, surgical quantity, surgical results, and intraoperative complication. RESULTS: In whole city there were 16 operating microscopes, 43 slit lamp microscopes, 12 non-contact tonometers, 1 intraocular lens Master, 8 optical A/B type ultrasonic examination systems, 4 YAG lasers and 12 phacoemulsification instruments. There 15 doctors could complete cataract surgery independently, and 5 of them were phacoemulsification surgeons. The total number of completed cataract surgeries reached 6 211 eyes, containing 3 564 eyes for Phaco+IOL(57%(preoperative visual acuity ≥0.3 in Phaco+IOL1 were 1 520 eyes, 24%and 2 647 eyes for ECCE+IOL(43%(1 533 eyes in ECCE+IOL1, 25%. In various groups, off-blindness rate was 94.80%-100%, off-disability rate was 90.41%-100%, and 94.96%-100% received intraocular lens implantation, intraoperative complication rate was 1.00%-15.10%. CONCLUSION: The distribution of surgeons and equipments in the whole city is unbalanced, and the utilization rate of phaco equipment is low. The levels are different in various hospitals on surgical technique

  20. Simultaneous Bilateral Ophthalmic Artery Chemosurgery for Bilateral Retinoblastoma (Tandem Therapy.

    Directory of Open Access Journals (Sweden)

    David H Abramson

    Full Text Available Report on the 7-year experience with bilateral ophthalmic artery chemosurgery (OAC-Tandem therapy for bilateral retinoblastoma.Retrospective, single institution study.120 eyes of 60 children with bilateral retinoblastoma treated since March 2008.Retrospective review of all children treated at Memorial Sloan Kettering with bilateral ophthalmic artery chemosurgery (Melphalan, Carboplatin, Topotecan, Methotrexate delivered in the same initial session to both naïve and previously treated eyes.Ocular survival, metastatic disease, patient survival from metastases, second cancers, systemic adverse effects, need for transfusion of blood products, electroretinogram before and after treatment.116 eyes were salvaged (4 eyes were enucleated: 3 because of progressive disease, 1 family choice. Kaplan Meier ocular survival was 99.2% at one year, 96.9% at 2 and 3 years and 94.9% for years 4 through 7. There were no cases of metastatic disease or metastatic deaths with a mean follow-up of 3.01 years. Two children developed second cancers (both pineoblastoma and one of them died. Transfusion of blood products was required in 3 cases (4 transfusions, 1.9%. Two children developed fever/neutropenia requiring hospitalization (0.95%. ERGs were improved in 21.6% and unchanged after treatment in 52.5% of cases (increase or decrease of less than 25μV.Bilateral ophthalmic artery chemosurgery is a safe and effective technique for managing bilateral retinoblastoma-even when eyes are advanced bilaterally, and if both eyes have progressed after systemic chemotherapy. Ocular survival was excellent (94.9% at 8 years, there were no cases of of metastatic disease and no deaths from metastatic disease, but children remain at risk for second cancers. In 21.6% of cases ERG function improved. Despite using chemotherapy in both eyes in the same session, systemic toxicity was low.