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Article

A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene.

Acta ophthalmologica - 1 May 2012

Sergouniotis Panagiotis I, Robson Anthony G, Li Zheng, Devery Sophie, Holder Graham E, Moore Anthony T, Webster Andrew R

Abstract excerpt

PURPOSE: To describe the clinical phenotype and the molecular pathology in a group of patients with congenital stationary night blindness due to mutations in GRM6, a gene encoding the ON bipolar metabotropic glutamate receptor 6 (mGluR6). METHODS: Nine patients from seven families (age range, 7-75; median, 10 years) with a clinical diagnosis of autosomal recessive complete congenital stationary night blindness...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22008250
DOI: 10.1111/j.1755-3768.2011.02267.x

Genes

GRM6
ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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