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Article

A common NYX mutation in Flemish patients with X linked CSNB.

The British journal of ophthalmology - 1 May 2009

Leroy B P, Budde B S, Wittmer M, De Baere E, Berger W, Zeitz C

Abstract excerpt

AIMS: The Schubert-Bornschein type of complete congenital stationary night blindness (CSNB) is a genetically heterogeneous retinal disorder. It is characterised by a non-progressive disease course, often associated with high myopia and nystagmus. So far, mutations in two genes, NYX (nyctalopin) and GRM6 (metabotropic glutamate receptor 6) have been associated with this form of CSNB. The purpose of this study was...

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Share to DNA Mutational Analysis
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Share to Genetic Diseases, X-Linked

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18617546
DOI: 10.1136/bjo.2008.143727

Genes

NYX
GRM6

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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