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Ocular Findings Associated With a Rhodopsin Gene Codon 106 Mutation
- Source :
- Archives of Ophthalmology. 110:646
- Publication Year :
- 1992
- Publisher :
- American Medical Association (AMA), 1992.
-
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.
- Subjects :
- Adult
Male
Rhodopsin
genetic structures
Fundus Oculi
Biology
Retinitis pigmentosa
medicine
Humans
Amino Acid Sequence
Codon
Gene
Genes, Dominant
Genetics
Retina
medicine.diagnostic_test
DNA
Middle Aged
medicine.disease
Phenotype
eye diseases
Pedigree
Visual field
Ophthalmology
medicine.anatomical_structure
Mutation
Mutation (genetic algorithm)
biology.protein
sense organs
Visual Fields
Retinitis Pigmentosa
Electroretinography
Subjects
Details
- ISSN :
- 00039950
- Volume :
- 110
- Database :
- OpenAIRE
- Journal :
- Archives of Ophthalmology
- Accession number :
- edsair.doi.dedup.....176033f0fdb682c0641908ed4f4c89f6
- Full Text :
- https://doi.org/10.1001/archopht.1992.01080170068026