TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

doi:10.1016/j.ajhg.2009.10.013

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Article

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

American journal of human genetics - 1 Nov 2009

Audo Isabelle, Kohl Susanne, Leroy Bart P, Munier Francis L, Guillonneau Xavier, Mohand-Saïd Saddek, Bujakowska Kinga, Nandrot Emeline F, Lorenz Birgit, Preising Markus, Kellner Ulrich, Renner Agnes B, Bernd Antje, Antonio Aline, Moskova-Doumanova Veselina, Lancelot Marie-Elise, Poloschek Charlotte M, Drumare Isabelle, Defoort-Dhellemmes Sabine, Wissinger Bernd, Léveillard Thierry, Hamel Christian P, Schorderet Daniel F, De Baere Elfride, Berger Wolfgang, Jacobson Samuel G, Zrenner Eberhart, Sahel José-Alain, Bhattacharya Shomi S, Zeitz Christina

Abstract excerpt

Night vision requires signaling from rod photoreceptors to adjacent bipolar cells in the retina. Mutations in the genes NYX and GRM6, expressed in ON bipolar cells, lead to a disruption of the ON bipolar cell response. This dysfunction is present in patients with complete X-linked and autosomal-recessive congenital stationary night blindness (CSNB) and can be assessed by standard full-field electroretinography...

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Identifiers

PMID: 19896113
DOI: 10.1016/j.ajhg.2009.10.013
PMCID: PMC2775830

Genes

TRPM1
GRM6
NYX
ERG

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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