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Article

Phenotypic characterization of autosomal dominant progressive cone dystrophies associated with a heterozygous variant c.2512C>T of GUCY2D gene in a large kindred.

Eye (London, England) - 1 Aug 2023

Gao Yunxia, Ren Xiang, Lin Hong, Li Kang, Xiao Lirong, Wang Xiaoyue, Zeng Zhibing, Ran Ruijin, Tao Yunhan, Lin Yu, Fu Xiangyu, Yan Naihong, Zhang Ming

Abstract excerpt

PURPOSE: In this study, we described a large family presenting different manifestations of cone dystrophy at different ages associated with GUCY2D gene mutation. METHOD: Sixty-three individuals of a single kindred, including 23 affected with cone dystrophies, were recruited and received ocular examinations, including best corrected visual acuity, intraocular pressure, slit-lamp biomicroscopy, color fundus...

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Identifiers

PMID: 36509996
DOI: 10.1038/s41433-022-02355-1
PMCID: PMC10397296

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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