Abstract
PURPOSE: We identified genetic mutations and characterized their associated phenotypes in patients with retinitis pigmentosa. METHODS: Patients with retinitis pigmentosa were prospectively examined and screened for genetic mutations. RESULTS: A 46-year-old man with retinitis pigmentosa was found to have a heterozygous mutation in the peripherin/RDS gene (arginine-46-stop). He had late onset of symptoms and demarcated peripheral retinal atrophy. All five first-degree relatives including his parents had no detectable mutations or retinitis pigmentosa. Genotypic data were consistent with reported family structure. CONCLUSIONS: This study shows that new dominant mutations are a rare cause of isolated, or simplex, cases of retinitis pigmentosa. Identification of these mutations is helpful for genetic counseling.
Original language | English (US) |
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Pages (from-to) | 65-71 |
Number of pages | 7 |
Journal | American journal of ophthalmology |
Volume | 119 |
Issue number | 1 |
DOIs | |
State | Published - Jan 1 1995 |
Externally published | Yes |
ASJC Scopus subject areas
- Ophthalmology