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Identification of mutations associated with congenital cataracts in nineteen Chinese families

24 Feb 2025

Abstract excerpt

BACKGROUND: Congenital cataracts (CC) are one of the leading causes of impaired vision or blindness in children, with approximately 8.3-25% being inherited. The aim of this study is to investigate the mutation spectrum and frequency of 9 cataract-associated genes in 19 Chinese families with congenital cataracts. PURPOSE: To identify the gene variants associated with congenital cataracts. METHODS: This study...

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PMID: 39994538
DOI: 10.1186/s12886-025-03920-4

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