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Article

Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants.

Molecular vision - 1 Jan 2018

Katagiri Satoshi, Hosono Katsuhiro, Hayashi Takaaki, Kurata Kentaro, Mizobuchi Kei, Matsuura Tomokazu, Yoshitake Kazutoshi, Iwata Takeshi, Nakano Tadashi, Hotta Yoshihiro

Abstract excerpt

Purpose: To report genetic and clinical features of two unrelated Japanese patients with early onset flecked retinal dystrophy. Methods: Patients underwent comprehensive ophthalmic examinations that included electroretinography (ERG) after 30 min and 24 h of dark adaptation (DA). Disease-causing gene variants were identified with whole exome sequencing (WES), with identified candidates confirmed with direct...

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Identifiers

PMID: 29681726
PMCID: PMC5893010

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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