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Article

RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis.

Ophthalmic genetics - 1 Jun 2016

Katagiri Satoshi, Hayashi Takaaki, Kondo Mineo, Tsukitome Hideyuki, Yoshitake Kazutoshi, Akahori Masakazu, Ikeo Kazuho, Tsuneoka Hiroshi, Iwata Takeshi

Abstract excerpt

PURPOSE: To investigate genetic and clinical features of patients with Leber congenital amaurosis (LCA) caused by RPE65 mutations. METHODS: Five Japanese families with LCA were recruited. We performed complete ophthalmic examinations, with optical coherence tomography, fundus autofluorescence imaging, and full-field electroretinography (ERG). Genetic analysis was performed with whole-exome sequencing analysis and...

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Identifiers

PMID: 25495949
DOI: 10.3109/13816810.2014.991931

Genes

RPE65
ERG

Variants

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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