Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa.

doi:10.1001/archopht.1991.01080100067044

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Article

Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Oct 1991

Fishman G A, Stone E M, Gilbert L D, Kenna P, Sheffield V C

Abstract excerpt

Eight members of a family with autosomal dominant retinitis pigmentosa were found to have a cytosine-to-guanine (C-to-G) transversion mutation in the second nucleotide of codon 58 of the rhodopsin gene, causing a substitution of the amino acid arginine for threonine. Five of these individuals were examined clinically. There was a distinct phenotypic expression of the gene defect within this family that included a...

Topics

Adult
Arginine
Base Sequence
Chromosome Aberrations
Chromosome Disorders
Codon
DNA Mutational Analysis
Electrophoresis, Polyacrylamide Gel
Electroretinography
Female
Fundus Oculi

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Gene Expression

Genes, Dominant

Humans

Male

Middle Aged

Molecular Sequence Data

Mutagenesis

Source

Open in PubMed

Identifiers

PMID: 1929926
DOI: 10.1001/archopht.1991.01080100067044

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1929926-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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