Article
Clinical features of autosomal dominant retinitis pigmentosa with rhodopsin gene codon 17 mutation and retinal neovascularization in a Japanese patient.
American journal of ophthalmology - 15 Feb 1993
Hayakawa M, Hotta Y, Imai Y, Fujiki K, Nakamura A, Yanashima K, Kanai A
Abstract excerpt
A 49-year-old Japanese man had autosomal dominant retinitis pigmentosa with a point mutation in codon 17 of the rhodopsin gene, resulting in a threonine-to-methionine change, and retinal neovascularization in both eyes. Pigmentary degeneration mainly in the inferior area of the fundus, and severe...
Topics
- Adaptation, Ocular
- Base Sequence
- Codon
- DNA
- Electroretinography
- Female
- Fluorescein Angiography
- Genes, Dominant
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Neovascularization, Pathologic
- Oligonucleotide Probes
- Pedigree
- Phenotype
- Polymerase Chain Reaction