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Article

Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB.

Investigative ophthalmology & visual science - 1 Sept 2008

Zeitz Christina, Gross Alecia K, Leifert Dorothee, Kloeckener-Gruissem Barbara, McAlear Suzanne D, Lemke Johannes, Neidhardt John, Berger Wolfgang

Abstract excerpt

PURPOSE: Mutations in RHO, PDE6B, and GNAT1 can lead to autosomal dominant congenital stationary night blindness (adCSNB). The study was conducted to identify the genetic defect in a large Swiss family affected with adCSNB and to investigate the pathogenic mechanism of the mutation. METHODS: Two affected cousins of a large Swiss family were examined clinically by standard methods: funduscopy, EOG, ERG, and dark...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18487375
DOI: 10.1167/iovs.08-1717

Genes

RHO
ERG
GNAT1
PDE6B

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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