Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene.

ABSTRACT:

Background

Congenital cataract is a leading cause of treatable childhood blindness and both clinically and genetically heterogeneous. Among the already characterized phenotypes, coralliform cataract is a rare special form of congenital cataracts. Although previous studies had shown that mutations in the γD-crystallin (CRYGD) can result in congenital coralliform cataracts, no conclusive genotype-phenotype correlation might be drawn. Here we aimed to identify the spectrum and frequency of CRYGD gene mutations in congenital coralliform cataracts of Chinese origin.

Methods

The medical records of 392 Chinese families with congenital cataracts were reviewed between January 2011 and December 2021. The families, clinically documented to have congenital coralliform cataracts, were sc

SUBMITTER: Wang KJ 

PROVIDER: S-EPMC10362579 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature