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

Gerald A Fishman; Edwin M Stone; Leonardo D Gilbert; Paul Kenna; Val C Sheffield

doi:10.1001/archopht.1991.01080100067044

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

Journal article

Peer reviewed

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

Gerald A Fishman, Edwin M Stone, Leonardo D Gilbert, Paul Kenna and Val C Sheffield

Archives of ophthalmology (1960), Vol.109(10), pp.1387-1393

10/1991

DOI: 10.1001/archopht.1991.01080100067044

PMID: 1929926

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Abstract

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 regional predilection for pigmentary changes in the inferior and inferonasal parts of the retina, as well as field impairment predominantly in the superior hemisphere. Characteristic electroretinographic recordings and psychophysical threshold profiles also helped to identify this phenotype that, on a relative basis, causes less severe photoreceptor cell functional impairment than often occurs in other subtypes of retinitis pigmentosa. This report documents the association of a clinically recognizable phenotype in a family with autosomal dominant retinitis pigmentosa and a specific gene defect at the molecular level.

Gene Expression

Phenotype

Mutagenesis

Humans

Middle Aged

Molecular Sequence Data

Male

Chromosome Disorders

DNA Mutational Analysis

Visual Fields

Arginine - genetics

Base Sequence

Threonine - genetics

Adult

Female

Codon - genetics

Electroretinography

Electrophoresis, Polyacrylamide Gel

Retinitis Pigmentosa - genetics

Rhodopsin - genetics

Pedigree

Chromosome Aberrations

Fundus Oculi

Genes, Dominant - genetics

Retinitis Pigmentosa - pathology

Details

Title: Subtitle: Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa
Creators: Gerald A Fishman - Department of Ophthalmology, University of Illinois, Chicago 60612
Edwin M Stone
Leonardo D Gilbert - University of Illinois Chicago
Paul Kenna - Trinity College Dublin
Val C Sheffield
Resource Type: Journal article
Publication Details: Archives of ophthalmology (1960), Vol.109(10), pp.1387-1393
DOI: 10.1001/archopht.1991.01080100067044
PMID: 1929926
NLM abbreviation: Arch Ophthalmol
ISSN: 0003-9950
eISSN: 1538-3601
Publisher: American Medical Association; United States
Grant note: P30H027748 / PHS HHS EY01792 / NEI NIH HHS EY08426 / NEI NIH HHS
Language: English
Date published: 10/1991
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983980002302771

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