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Article

Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation.

Documenta ophthalmologica. Advances in ophthalmology - 1 Jun 2014

Kuniyoshi Kazuki, Sakuramoto Hiroyuki, Yoshitake Kazutoshi, Abe Kosuke, Ikeo Kazuho, Furuno Masaaki, Tsunoda Kazushige, Kusaka Shunji, Shimomura Yoshikazu, Iwata Takeshi

Abstract excerpt

PURPOSE: To report the longitudinal clinical course of three Japanese patients from two families with Leber congenital amaurosis/early-onset retinal dystrophy (LCA/EORD), and the results of next-generation DNA sequences on them. PATIENTS AND METHODS: The patients were three Japanese children: a 4...

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Source

Identifiers

PMID: 24752437
DOI: 10.1007/s10633-014-9436-z

Genes

RDH12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24752437-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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