An unusual combination of congenital malformations in a 16-year-old emotionally disturbed man is described. The anomalies included severe congenital bilateral leg lymphedema, bilateral gynecomastia, unilateral cataract, and malformed external genitalia. Genetic and hormonal investigations were unremarkable. Multiple concomitant operations (vascular and plastic surgeons) to correct the deformiti...

PURPOSE To identify the underlying genetic defect in a Chinese family affected with autosomal dominant congenital nuclear cataract. METHODS A four-generation Chinese family with inherited nuclear cataract phenotype was recruited. Detailed family history and clinical data were recorded. All reported nuclear cataract-related candidate genes were screened for causative mutations by direct DNA se...

BACKGROUND Congenital cataracts are clinically and genetically heterogeneous with more than 45 known loci and 38 identified genes. They can occur as isolated defects or in association with anterior segment developmental anomalies. One of the disease genes for congenital cataract with or without anterior segment dysgenesis (ASD) is PITX3, encoding a transcription factor with a crucial role in le...

OBJECTIVE To evaluate the characteristics of strabismus in infants who underwent cataract surgery with and without intraocular lens (IOL) implantation. DESIGN Secondary outcome analysis in a prospective, randomized clinical trial. PARTICIPANTS The Infant Aphakia Treatment Study is a randomized, multicenter (n = 12), clinical trial comparing treatment of aphakia with a primary IOL or contact...

PURPOSE To unravel the molecular genetic background in families with congenital cataract in association with microcornea (CCMC, OMIM 116150). METHODS CCMC families were recruited from a national database on hereditary eye diseases; DNA was procured from a national gene bank on hereditary eye diseases and by blood sampling from one large family. Genomewide linkage analysis, fine mapping, and d...

Pre-operative keratometry measurement of the subjects was done in 80 children with bilateral congenital cataract below 15 years who had undergone pediatric cataract surgery. The objective of the study was to evaluate the average keratometry reading in Nepalese children with bilateral cataract. The keratometry reading was taken under general anesthesia with the Nidek Auto Keratometer, model KM-5...

Structurally abnormal mitochondria were found in skeletal muscle cells from a woman with hypertrophic cardiomyopathy and myopathy of voluntary muscles associated with congenital cataracts. Moderate exercise resulted in lactic acidosis. Oxidation of pyruvate and other substrates and the production of adenosine triphosphate were normal in vitro. A younger brother of the patient had had congenital...

Objective(s): Childhood cataract is a genetically heterogeneous eye disorder that results in visual impairment. The aim of this study was to identify the genetic mutations of connexin 50 gene among Iranian families suffered from autosomal dominant congenital cataracts (ADCC). Materials and Methods: Families, having at least two members with bilateral familial congenital cataract, were selected ...

BACKGROUND/AIMS To investigate outcomes following cataract surgery with and without primary intraocular lens (IoL) implantation in children under 2 years of age with congenital or infantile cataract. METHOD Prospective population based cohort study undertaken through the British Isles Congenital Cataract Interest Group, with systematic data collection on children undergoing surgery in UK and ...

PURPOSE "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 retrieved the family and performed linkage analysis to determine the disease locus and identi...