Journal article
Ocular findings associated with a rhodopsin gene codon 106 mutation. Glycine-to-arginine change in autosomal dominant retinitis pigmentosa
Archives of ophthalmology (1960), Vol.110(5), pp.646-653
05/1992
DOI: 10.1001/archopht.1992.01080170068026
PMID: 1580841
Abstract
Three members of one family and one person from another family were found to have a guanine-to-adenine transition mutation in the first nucleotide of codon 106 in the rhodopsin gene that results in a glycine-to-arginine change. All affected members presented with a similar phenotype that included a regional predilection for pigmentary changes to occur in the inferior retina as well as visual field impairment predominantly in the superior hemisphere. The distribution of pigmentary changes, pattern of visual field loss, and substantial remaining electroretinographic amplitudes with normal implicit times were consistent with a form of "sector" retinitis pigmentosa. We documented the association of a distinct phenotype of autosomal dominant retinitis pigmentosa with a better visual prognosis and a specific rhodopsin gene mutation.
Details
- Title: Subtitle
- Ocular findings associated with a rhodopsin gene codon 106 mutation. Glycine-to-arginine change in autosomal dominant retinitis pigmentosa
- Creators
- Gerald A Fishman - Department of Ophthalmology, University of Illinois, Chicago 60612Edwin M StoneLeonardo D GilbertVal C Sheffield
- Resource Type
- Journal article
- Publication Details
- Archives of ophthalmology (1960), Vol.110(5), pp.646-653
- DOI
- 10.1001/archopht.1992.01080170068026
- PMID
- 1580841
- NLM abbreviation
- Arch Ophthalmol
- ISSN
- 0003-9950
- eISSN
- 1538-3601
- Publisher
- American Medical Association; United States
- Grant note
- P30H027748 / PHS HHS EY08426 / NEI NIH HHS EY0179 / NEI NIH HHS
- Language
- English
- Date published
- 05/1992
- Academic Unit
- Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
- Record Identifier
- 9983979937302771
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