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 ophtha...

AIM To identify the disease-causing mutation responsible for the presence of congenital cataract in a Chinese family. METHODS The study recruited a four-generation Chinese pedigree affected by autosomal dominant congenital cataract (ADCC). Family history and the history of cataract extraction were recorded. Blood samples were collected from individuals for DNA extraction. Direct sequencing of...

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 attem...

AIM To identify the causes of childhood cataract in south India with emphasis on factors that might be potentially preventable. METHODS A total of 514 consecutive children with cataract attending an eye hospital outpatient clinic were examined and their parents interviewed by a trained interviewer using a standardised questionnaire in the local language. Serology was performed on children und...

PURPOSE Aniridia is phenotyically and genetically heterogeneous. This study is to summarize the phenotypes and identify the genetic defect responsible for aniridia and congenital progressive cataract in a three generation Chinese family. METHODS A detailed family history and clinical data from patients were collected by ophthalmologic examination, including visual acuity, slit-lamp examinatio...

Congenital cataract, a clinically and genetically heterogeneous lens disorder is defined as any opacity of the lens presented from birth and is responsible for approximately 10% of worldwide childhood poor vision or blindness. To identify the genetic defect responsible for congenital nuclear cataract in a four-generation Chinese Han family, exome and direct Sanger sequencings were conducted and...

Cataract may cause visual loss especially in the newborn period if early and urgent intervention is not managed. Approximately 1/3 of cases are congenital, 1/3 are related with systemic diseases and the remaining 1/3 are idiopathic or sporadic. The prevalence of congenital cataract in developed countries is estimated as 1 - 3 per 10,000 live births. There are a number of medicines besides syste...

BACKGROUND The transparency of the eye lens depends upon maintenance of the native state of the γ- and β-crystallins, which is aided by the abundant chaperones αA- and αB-crystallin. Mature onset cataract, the leading cause of blindness worldwide, involves the polymerization of covalently damaged or partially unfolded crystallins into light-scattering aggregates. A number of single amino acid s...

The morphology and severity of human congenital cataract varies even among individuals with the same mutation, suggesting that genetic background modifies phenotypic penetrance. The spontaneous mouse mutant, vacuolated lens (vl), arose on the C3H/HeSnJ background. The mutation disrupts secondary lens fiber development by E16.5, leading to full penetrance of congenital cataract. The vl locus was...