Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis).

ABSTRACT:

Purpose

To assess for phenotype-genotype correlations in families with recessive pediatric cataract and identified gene mutations.

Methods

Retrospective review (2004 through 2013) of 26 Saudi Arabian apparently nonsyndromic pediatric cataract families referred to one of the authors (A.O.K.) and for which recessive gene mutations were identified.

Results

Fifteen different homozygous recessive gene mutations were identified in the 26 consanguineous families; two genes and five families are novel to this study. Ten families had a founder CRYBB1 deletion (all with bilateral central pulverulent cataract), two had the same missense mutation in CRYAB (both with bilateral juvenile cataract with marked variable expressivity), and two had different mutations in FYCO1 (both with

SUBMITTER: Khan AO 

PROVIDER: S-EPMC4634221 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature