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Article

Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.

American journal of human genetics - 5 May 2016

Vincent Ajoy, Audo Isabelle, Tavares Erika, Maynes Jason T, Tumber Anupreet, Wright Thomas, Li Shuning, Michiels Christelle, Condroyer Christel, MacDonald Heather, Verdet Robert, Sahel José-Alain, Hamel Christian P, Zeitz Christina, Héon Elise

Abstract excerpt

Congenital stationary night blindness (CSNB) is a heterogeneous group of non-progressive inherited retinal disorders with characteristic electroretinogram (ERG) abnormalities. Riggs and Schubert-Bornschein are subtypes of CSNB and demonstrate distinct ERG features. Riggs CSNB demonstrates selective rod photoreceptor dysfunction and occurs due to mutations in genes encoding proteins involved in rod...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27063057
DOI: 10.1016/j.ajhg.2016.03.021
PMCID: PMC4867910

Genes

GNB3
ERG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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