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Article

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

Investigative ophthalmology & visual science - 2 Sept 2025

Chen Shuowei, Yi Zhen, Zheng Yuxi, Jiang Yi, Guo Dongwei, Jia Xiaoyun, Li Shiqiang, Xiao Xueshan, Zhang Qingjiong, Sun Wenmin

Abstract excerpt

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...

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Source

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Identifiers

PMID: 41025874
DOI: 10.1167/iovs.66.12.69
PMCID: PMC12489859

Genes

GPR143

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 9 Sept 2026.

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