Genetics of bilateral pediatric cataract in the Israeli and Palestinian populations.

ABSTRACT:

Purpose

Bilateral pediatric cataract (BPC) is one of the most common causes of childhood visual impairment and blindness worldwide. A significant percentage of pediatric cataracts are caused by genetic alterations. We aim to characterize the set of genes and variants that cause BPC in the Israeli and Palestinian populations and to assess genotype-phenotype correlation.

Methods

Retrospective study in a multidisciplinary center for visual impairment, located in a tertiary medical center. Medical charts of families who underwent genetic counseling because of BPC in a family member were reviewed. Clinical characteristics and genetic tests results were obtained from medical records of affected subjects.

Results

Twenty-two families (47 patients) underwent genetic counseling

SUBMITTER: Yahalom C 

PROVIDER: S-EPMC11458781 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature