Ocular findings associated with rhodopsin gene codon 17 and codon 182 transition mutations in dominant retinitis pigmentosa

Gerald A Fishman; Edwin M Stone; Val C Sheffield; Leonardo D Gilbert; Alan E Kimura

doi:10.1001/archopht.1992.01080130056026

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Ocular findings associated with rhodopsin gene codon 17 and codon 182 transition mutations in dominant retinitis pigmentosa

Journal article

Peer reviewed

Ocular findings associated with rhodopsin gene codon 17 and codon 182 transition mutations in dominant retinitis pigmentosa

Gerald A Fishman, Edwin M Stone, Val C Sheffield, Leonardo D Gilbert and Alan E Kimura

Archives of ophthalmology (1960), Vol.110(1), pp.54-62

01/1992

DOI: 10.1001/archopht.1992.01080130056026

PMID: 1731723

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Abstract

Six members of a family with autosomal dominant retinitis pigmentosa were found to have a cytosine-to-thymine transition mutation in the second nucleotide of codon 17 in the rhodopsin gene that resulted in a threonine to methionine change. Three members from another family with autosomal dominant retinitis pigmentosa showed a guanine-to-adenine transition mutation in the first nucleotide of codon 182 in the rhodopsin gene that resulted in a glycine to serine change. Each of these two mutations presented with a similar phenotype because both showed a regional predilection for pigmentary changes to occur in the inferior part of the retina as well as field impairment predominantly in the superior hemisphere. Electroretinographic amplitudes were more substantial than usually encountered in other forms of retinitis pigmentosa, a finding consistent with the better visual prognosis in patients with either of these two mutations. This article documents the association of two similar phenotypes of autosomal dominant retinitis pigmentosa with specific gene defects at a molecular level.

Phenotype

Polymerase Chain Reaction

Mutation

Electroretinography

Electrophoresis, Polyacrylamide Gel

Humans

Middle Aged

Retinitis Pigmentosa - genetics

Male

Amino Acids - genetics

Visual Acuity

Dark Adaptation

Rhodopsin - genetics

Genes, Dominant

DNA - analysis

Pedigree

Visual Fields

Adolescent

Adult

Female

Aged

Codon - genetics

Fundus Oculi

Retinitis Pigmentosa - pathology

Details

Title: Subtitle: Ocular findings associated with rhodopsin gene codon 17 and codon 182 transition mutations in dominant retinitis pigmentosa
Creators: Gerald A Fishman - Department of Ophthalmology, University of Illinois, Chicago 60612
Edwin M Stone
Val C Sheffield
Leonardo D Gilbert
Alan E Kimura
Resource Type: Journal article
Publication Details: Archives of ophthalmology (1960), Vol.110(1), pp.54-62
DOI: 10.1001/archopht.1992.01080130056026
PMID: 1731723
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: 01/1992
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983979901902771

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