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Article

[Molecular genetic study of congenital stationary night blindness].

Nippon Ganka Gakkai zasshi - 1 Nov 2004

Nakamura Makoto, Miyake Yozo

Abstract excerpt

PURPOSE: Molecular genetic study was conducted on patients with fundus albipunctatus, incomplete and complete types of congenital stationary night blindness(CSNB), and Oguchi disease. RESULTS: Mutations in the RDH5 gene were identified in all 10 patients with typical clinical features of fundus albipunctatus. Mutations in the gene were also detected in patients with fundus albipunctatus associated with cone...

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Source

Identifiers

PMID: 15584351

Genes

NYX
RDH5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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