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Article

A novel mutation in the RPE65 gene causing Leber congenital amaurosis and its transcriptional expression in vitro.

PloS one - 1 Jan 2014

Mo Guoyan, Ding Qin, Chen Zhongshan, Li Yunbo, Yan Ming, Bu Lijing, Song Yanping, Yin Guohua

Abstract excerpt

The retinal pigment epithelium-specific 65 kDa protein is an isomerase encoded by the RPE65 gene (MIM 180069) that is responsible for an essential enzymatic step required for the function of the visual cycle. Mutations in the RPE65 gene cause not only subtype II of Leber congenital amaurosis (LCA) but also early-onset severe retinal dystrophy (EOSRD). This study aims to investigate a Chinese case diagnosed as...

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Identifiers

PMID: 25383945
DOI: 10.1371/journal.pone.0112400
PMCID: PMC4226570

Genes

RPE65

Variants

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

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