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Article

Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness.

Nature genetics - 1 Jul 1993

Dryja T P, Berson E L, Rao V R, Oprian D D

Abstract excerpt

A number of mutations in the rhodopsin gene have been shown to cause both dominant and recessive retinitis pigmentosa. Here we describe another phenotype associated with a defect in this gene. We discovered a patient with congenital stationary night blindness who carries the missense mutation Ala292Glu. When coupled with 11-cis-retinal in vitro, Ala292Glu rhodopsin is able to activate transducin in a...

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PMID: 8358437
DOI: 10.1038/ng0793-280

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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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