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Article

Genotyping microarray for CSNB-associated genes.

Investigative ophthalmology & visual science - 1 Dec 2009

Zeitz Christina, Labs Stephan, Lorenz Birgit, Forster Ursula, Uksti Janne, Kroes Hester Y, De Baere Elfride, Leroy Bart P, Cremers Frans P M, Wittmer Mariana, van Genderen Maria M, Sahel José-Alain, Audo Isabelle, Poloschek Charlotte M, Mohand-Saïd Saddek, Fleischhauer Johannes C, Hüffmeier Ulrike, Moskova-Doumanova Veselina, Levin Alex V, Hamel Christian P, Leifert Dorothee, Munier Francis L, Schorderet Daniel F, Zrenner Eberhart, Friedburg Christoph, Wissinger Bernd, Kohl Susanne, Berger Wolfgang

Abstract excerpt

PURPOSE: Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous retinal disease. Although electroretinographic (ERG) measurements can discriminate clinical subgroups, the identification of the underlying genetic defects has been complicated for CSNB because of genetic heterogeneity, the uncertainty about the mode of inheritance, and time-consuming and costly mutation scanning...

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Source

Identifiers

PMID: 19578023
DOI: 10.1167/iovs.09-3548

Genes

CABP4
ERG
GNAT1
GRM6
NYX
RHO
SAG

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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