Article
Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene.
Orphanet journal of rare diseases - 21 Jul 2023
Wang Kai-Jie, Wang Jue-Xue, Wang Jin-Da, Li Meng, Zhang Jing-Shang, Mao Ying-Yan, Wan Xiu-Hua
Abstract excerpt
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...
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