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Article

A Gene Scan Study of RPE65 in Chinese Patients with Leber Congenital Amaurosis.

Chinese medical journal - 20 Nov 2017

Liu Jing, Bu Juan

Abstract excerpt

BACKGROUND: Leber congenital amaurosis (LCA) is a visual disease which is caused by RPE65 mutations and results in retinal degeneration and severe vision loss in early infancy. According to previous researches, mutations of the RPE65 gene account for 16% of all cases of LCA. This study aimed to identify RPE65 gene mutations in Chinese patients with LCA. METHODS: We recruited 52 sporadic patients from Peking...

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Identifiers

PMID: 29133760
DOI: 10.4103/0366-6999.218007
PMCID: PMC5695057

Genes

RPE65

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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