GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness.

doi:10.1016/j.ajhg.2011.12.006

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Article

GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness.

American journal of human genetics - 10 Feb 2012

Peachey Neal S, Ray Thomas A, Florijn Ralph, Rowe Lucy B, Sjoerdsma Trijntje, Contreras-Alcantara Susana, Baba Kenkichi, Tosini Gianluca, Pozdeyev Nikita, Iuvone P Michael, Bojang Pasano, Pearring Jillian N, Simonsz Huibert Jan, van Genderen Maria, Birch David G, Traboulsi Elias I, Dorfman Allison, Lopez Irma, Ren Huanan, Goldberg Andrew F X, Nishina Patsy M, Lachapelle Pierre, McCall Maureen A, Koenekoop Robert K, Bergen Arthur A B, Kamermans Maarten, Gregg Ronald G

Abstract excerpt

Complete congenital stationary night blindness (cCSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive impairment of night vision, absence of the electroretinogram (ERG) b-wave, and variable degrees of involvement of other visual functions. We report here that mutations in GPR179, encoding an orphan G protein receptor, underlie a form of autosomal-recessive...

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Identifiers

PMID: 22325362
DOI: 10.1016/j.ajhg.2011.12.006
PMCID: PMC3276656

Genes

ERG
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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GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness.PMID 22325362Read ↗

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