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Article

Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.

American journal of human genetics - 1 Nov 2009

Li Zheng, Sergouniotis Panagiotis I, Michaelides Michel, Mackay Donna S, Wright Genevieve A, Devery Sophie, Moore Anthony T, Holder Graham E, Robson Anthony G, Webster Andrew R

Abstract excerpt

Complete congenital stationary night blindness (cCSNB) is associated with loss of function of rod and cone ON bipolar cells in the mammalian retina. In humans, mutations in NYX and GRM6 have been shown to cause the condition. Through the analysis of a consanguineous family and screening of nine additional pedigrees, we have identified three families with recessive mutations in the gene TRPM1 encoding transient...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19878917
DOI: 10.1016/j.ajhg.2009.10.003
PMCID: PMC2775833

Genes

TRPM1
GRM6
NYX

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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