Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family.

doi:10.1186/s12886-021-02166-0

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Article

Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family.

BMC ophthalmology - 20 Nov 2021

Wang Yafang, Liu Shu, Zhai Yuanqi, Liu Yang, Wan Xiaoling, Wang Wenqiu, Wang Fenghua, Sun Xiaodong

Abstract excerpt

BACKGROUND: Cone-rod dystrophy (CORD) is a group of inherited retinal dystrophies, characterized by decreased visual acuity, color vision defects, photophobia, and decreased sensitivity in the central visual field. Our study has identified a novel pathogenic variant associated with X-linked cone-rod dystrophy (XLCORD) in a Chinese family. METHODS: All six family members, including the proband, affected siblings,...

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PMID: 34800980
DOI: 10.1186/s12886-021-02166-0
PMCID: PMC8605601

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