Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation.

doi:10.1016/j.exer.2021.108637

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Article

Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation.

Experimental eye research - 1 Jul 2021

Yi Zhen, Sun Wenmin, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Li Xueqing, Yu Bilin, Wang Panfeng, Zhang Qingjiong

Abstract excerpt

Leber congenital amaurosis (LCA) is the most severe form of retinopathy and cone/cone-rod dystrophy (CORD) is a common form of inherited retinopathy. Variants in GUCY2D constitute the most common cause of LCA and autosomal dominant CORD (ADCORD). The purpose of this study was to reveal novel variants and document associated phenotypes of patients with GUCY2D-associated retinopathy. Fifty-two potentially...

Topics

DNA
DNA Mutational Analysis
Electroretinography
Female
Genetic Association Studies
Guanylate Cyclase
Humans
Male
Mutation
Pedigree
Receptors, Cell Surface
Retinal Diseases
Rod Cell Outer Segment
Visual Acuity

Source

Open in PubMed

Identifiers

PMID: 34048777
DOI: 10.1016/j.exer.2021.108637

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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