Purpose: To identify the causative gene for phenotypes associating autosomal recessive congenital cataract, mental retardation and congenital cataract, mental retardation and microcephaly in four unrelated Tunisian families. Methods: Four genes (EPHA2, GALK1, GCNT2, and CRYBB1) were selected based on their expression in human brain and their known or putative function. Linkage analysis were per...

PURPOSE To study occurrence, morphology, immunofluorescence, and ultrastructural features of congenital anterior capsular plaque (ACP) obtained from pediatric eyes undergoing cataract surgery. METHODS Two hundred sixty consecutive pediatric eyes undergoing congenital cataract surgery were enrolled in the present study. Anterior lens epithelium from cataract without ACP and with ACP was collec...

Healthy eyes (left).Bilateral congenital cataract (right) Photos: Murray McGavin & Allen FosterEarly detection is important Credit: ICEHCongenital CataractPhoto: Allen Foster

The authors report a case of anophthalmia, congenital cataract and systemic malformations. Male patient, 6 months old, left anophthalmia and congenital posterior polar cataract in the right eye. The patient was treated with manual aspiration of the crystalline lens, with no intraocular lens implantation with primary posterior capsulorhexis and anterior vitrectomy through a small incision. The a...

BACKGROUND The study aims to explore the correlations of the single nucleotide polymorphisms (SNPs) of CRYAA and CRYAB with the risk and clinicopathological features of children with congenital cataract. METHODS The study enrolled 168 children diagnosed as congenital cataract (case group) and 172 normal children (control group) from May 2015 to May 2016. Genomic DNA extraction was performed u...

AIMS Multiple genetic causes of congenital cataract have been identified, both as a component of syndromes and in families that present with isolated congenital cataract. Linkage analysis was used to map the genetic locus in a six generation Australian family presenting with total congenital cataract. METHODS Microsatellite markers located across all known autosomal dominant congenital catara...

purpose: to evaluate the etiology of cataracts in children less than 3 years of age particularly the association of rubella virus infection and galactosuria with congenital cataracts at khalili hospital, shiraz-iran from 2003 to 2006. methods: this prospective study included 46 patients less than 3 years undergoing lensectomy for the management of significant cataracts. lens aspirate specimens ...

PURPOSE This study aimed to evaluate the frequency of strabismus and chronological, etiological, and morphological features in patients with pediatric cataracts. METHODS Medical records of pediatric patients were evaluated at the Congenital Cataract Section, Department of Ophthalmology, Federal University of São Paulo, from 2001 to 2011. Patients with congenital cataract or developmental cata...

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 Pro...

C ataract results from a loss in transparency of the crystalline lens. Worldwide, there are an estimated 20 million people blind (Snellen visual acuity of 3/60 or less) as a result of cataract. Despite effective surgical treatment, demand outstrips supply in both Western and developing countries, for many reasons, 3 and other disease modifying strategies must be considered. A strong genetic pre...