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

Abstract excerpt

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...

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