Pigmentation Pattern of Iris and Fundus in 75 Chinese Families With GPR143-Associated Ocular Albinism.

ABSTRACT:

Purpose

Ocular albinism is an X-linked recessive genetic disorder that exhibits highly heterogeneous phenotypes involving significant visual deficits and pigmental changes in the eye due to GPR143 variants. The aim of this study is to describe the phenotypic spectra of patients with ocular albinism based on the identification of GRP143 variants in a large Chinese cohort.

Methods

GPR143 variants were selected from an in-house data set. Potential pathogenic variants were evaluated using multiple bioinformatic analyses and validated by Sanger sequencing. Clinical data of individuals with likely pathogenic variants in GPR143 were thoroughly analyzed.

Results

Forty-six hemizygous variants (18 missense, 8 stop-gain, 8 splicing, 5 frameshift, 6 deletion, and 1 in-frame inser

SUBMITTER: Chen S 

PROVIDER: S-EPMC12489859 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature