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

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

Abstract 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...

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Bibliographic Details
Main Authors: Yafang Wang, Shu Liu, Yuanqi Zhai, Yang Liu, Xiaoling Wan, Wenqiu Wang, Fenghua Wang, Xiaodong Sun
Format: Article
Language:English
Published: BMC 2021-11-01
Series:BMC Ophthalmology
Subjects:
Cone-rod dystrophy
RPGR
Mutation
Online Access:https://doi.org/10.1186/s12886-021-02166-0

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