OBJECTIVE: To report a novel phenotype of autosomal dominant atypical congenital cataract associated with variable expression of microcornea, microphthalmia, and iris coloboma linked to chromosome 2. Molecular analysis of this phenotype may improve our understanding of anterior segment development. DESIGN: Observational case study, genome linkage analysis, and gene mutation screening. PARTICIPANTS: Three families, 1 Egyptian and 2 Belgians, with a total of 31 affected were studied. METHODS: Twenty-one affected subjects and 9 first-degree relatives underwent complete ophthalmic examination. In the Egyptian family, exclusion of PAX6, CRYAA, and MAF genes was demonstrated by haplotype analysis using microsatellite markers on chromosomes 11, 16...
Purpose: To map a gene responsible for infantile cataract in a large four-generation, non- consangui...
Congenital cataract is a leading cause of visual impairment in children and brings approximately 10%...
Purpose: This study aimed to map the genetic locus responsible for a novel X-linked congenital catar...
Objective: To report a novel phenotype of autosomal dominant atypical congenital cataract associated...
International audienceOBJECTIVE: To describe a new phenotype with an arginine-to-cysteine mutation a...
PURPOSE: The molecular characterization of an Indian family having 10 members in four generations af...
Congenital cataracts are a significant cause of lifelong visual loss. They may be isolated or associ...
Purpose. To screen out pathogenic genes in a Chinese family with congenital cataract and iris colobo...
PURPOSE: To identify the genetic defect for the Coppock-like cataract (CCL) affecting a Swiss family...
AIMS: To report the detailed clinical findings in a three generation pedigree with autosomal dominan...
Purpose: To investigate the molecular basis of recessively inherited congenital cataract, microcorne...
Background/Purpose: To identify the underlying genetic cause of a Taiwanese family with autosomal do...
AIM: To summarize the phenotypes and identify the underlying genetic cause of the CRYBB1 and CRYBB2 ...
AimsThe study aims to detect the underlying genetic defect in two autosomal dominant congenital cata...
Importance Identification of geographic population-based differences in genotype and phenotype he...
Purpose: To map a gene responsible for infantile cataract in a large four-generation, non- consangui...
Congenital cataract is a leading cause of visual impairment in children and brings approximately 10%...
Purpose: This study aimed to map the genetic locus responsible for a novel X-linked congenital catar...
Objective: To report a novel phenotype of autosomal dominant atypical congenital cataract associated...
International audienceOBJECTIVE: To describe a new phenotype with an arginine-to-cysteine mutation a...
PURPOSE: The molecular characterization of an Indian family having 10 members in four generations af...
Congenital cataracts are a significant cause of lifelong visual loss. They may be isolated or associ...
Purpose. To screen out pathogenic genes in a Chinese family with congenital cataract and iris colobo...
PURPOSE: To identify the genetic defect for the Coppock-like cataract (CCL) affecting a Swiss family...
AIMS: To report the detailed clinical findings in a three generation pedigree with autosomal dominan...
Purpose: To investigate the molecular basis of recessively inherited congenital cataract, microcorne...
Background/Purpose: To identify the underlying genetic cause of a Taiwanese family with autosomal do...
AIM: To summarize the phenotypes and identify the underlying genetic cause of the CRYBB1 and CRYBB2 ...
AimsThe study aims to detect the underlying genetic defect in two autosomal dominant congenital cata...
Importance Identification of geographic population-based differences in genotype and phenotype he...
Purpose: To map a gene responsible for infantile cataract in a large four-generation, non- consangui...
Congenital cataract is a leading cause of visual impairment in children and brings approximately 10%...
Purpose: This study aimed to map the genetic locus responsible for a novel X-linked congenital catar...