Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His).

doi:10.1001/archopht.1991.01080010094039

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Article

Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His).

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

Berson E L, Rosner B, Sandberg M A, Dryja T P

Abstract excerpt

Ocular findings are presented from 17 unrelated patients with a form of autosomal dominant retinitis pigmentosa and the same cytosine-to-adenine transversion in codon 23 of the rhodopsin gene corresponding to a substitution of histidine for proline in the 23rd amino acid of rhodopsin (designated rhodopsin, Pro-23-His). On average, these patients (mean age, 37 years) had significantly better visual acuity and...

Topics

Adolescent
Adult
Base Sequence
Codon
Dark Adaptation
Electroretinography
Female
Fundus Oculi
Histidine
Humans
Male
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Oligonucleotide Probes

Pedigree

Polymerase Chain Reaction

Proline

Source

Open in PubMed

Identifiers

PMID: 1987956
DOI: 10.1001/archopht.1991.01080010094039

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1987956-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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