Genetic spectrum of congenital cataract with optional ocular and multisystem abnormalities.

ABSTRACT:

Purpose

To identify disease-causing gene variants in 114 probands with congenital cataract (CC), either isolated or accompanied by additional ocular abnormalities and multisystem disorders.

Methods

A total of 114 probands with CC who accept cataract surgery between 2021 and 2022 were enrolled. All probands and available family members underwent a comprehensive ophthalmologic examinations and received clinical diagnoses. Medical history and examination data were collected. Whole-exome sequencing (WES) was performed for all probands, and candidate variants were further validated by co-segregation analysis.

Results

Among 114 probands, 49 presented with isolated CC, and 11 exhibited CC combined with systemic abnormalities such as congenital heart disease (CHD), laryngeal

SUBMITTER: Zhang H 

PROVIDER: S-EPMC12648866 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature