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Article

Characterization of PROM1 p.Arg373Cys Variant in a Cohort of Chinese Patients: Macular Dystrophy Plus Peripheral Bone-Spicule Degeneration.

Investigative ophthalmology & visual science - 3 May 2021

Wang Yingwei, Wang Panfeng, Li Shiqiang, Ouyang Jiamin, Jia Xiaoyun, Xiao Xueshan, Yang Junxing, Li Xueqing, Sun Wenmin, Zhang Qingjiong

Abstract excerpt

Purpose: The PROM1 p.Arg373Cys variant has been reported to cause dominant Stargardt disease, cone-rod dystrophy, and occasionally retinitis pigmentosa. This study aimed to evaluate the common phenotype associated with this variant in Chinese patients. Methods: Variants in PROM1 were collected from in-house exome data. Potential pathogenic variants were selected, verified, and then confirmed by Sanger sequencing...

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Identifiers

PMID: 34008001
DOI: 10.1167/iovs.62.6.19
PMCID: PMC8142721

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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