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Article

Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.

American journal of human genetics - 1 Nov 2009

van Genderen Maria M, Bijveld Mieke M C, Claassen Yvonne B, Florijn Ralph J, Pearring Jillian N, Meire Francoise M, McCall Maureen A, Riemslag Frans C C, Gregg Ronald G, Bergen Arthur A B, Kamermans Maarten

Abstract excerpt

Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive impaired night vision and variable decreased visual acuity. We report here that six out of eight female probands with autosomal-recessive complete CSNB (cCSNB) had mutations in TRPM1, a retinal transient receptor potential (TRP) cation channel gene. These data...

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Share to Chromosome Deletion
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Mutation, Missense

Share to Night Blindness

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Share to Retinal Rod Photoreceptor Cells

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Source

Open in PubMed Open full text

Identifiers

PMID: 19896109
DOI: 10.1016/j.ajhg.2009.10.012
PMCID: PMC2775826

Genes

TRPM1
GRM6

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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