Ocular manifestations in autosomal dominant retinitis pigmentosa with a Lys-296-Glu rhodopsin mutation at the retinal binding site.

doi:10.1136/bjo.78.5.353

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Article

Ocular manifestations in autosomal dominant retinitis pigmentosa with a Lys-296-Glu rhodopsin mutation at the retinal binding site.

The British journal of ophthalmology - 1 May 1994

Owens S L, Fitzke F W, Inglehearn C F, Jay M, Keen T J, Arden G B, Bhattacharya S S, Bird A C

Abstract excerpt

A lysine to glutamic acid substitution at codon 296 in the rhodopsin gene has been reported in a family with autosomal dominant retinitis pigmentosa. This mutation is of particular functional interest as this lysine molecule is the binding site of 11-cis-retinal. The clinical features of a family...

Topics

Adolescent
Adult
Aged
Binding Sites
Dark Adaptation
Electroretinography
Female
Fundus Oculi
Genes, Dominant
Humans
Lysine
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Mutation

Night Blindness

Pedigree

Retinaldehyde

Retinitis Pigmentosa

Source

Open in PubMed Open full text

Identifiers

PMID: 8025068
DOI: 10.1136/bjo.78.5.353
PMCID: PMC504786

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8025068-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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