@article{e552b42cfefa467c8b8d4d51c1684d90,
title = "Retinitis pigmentosa associated with a dominant mutation in codon 46 of the peripherin/RDS gene (arginine-46-stop)",
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.",
author = "Lam, {B. L.} and K. Vandenburgh and Sheffield, {V. C.} and Stone, {E. M.}",
note = "Funding Information: Accepted for publication Aug. 2, 1994· From the Department of Ophthalmology, University of Arkansas for Medical Sciences, Little Rock, Arkansas (Dr. Lam); and the Departments of Ophthalmology (Ms. Vandenburgh and Dr. Stone) and Pediatrics (Dr. Sheffield), University of Iowa College of Medicine, Iowa City, Iowa. This study was supported in part by the National Retinitis Pigmentosa Foundation Fighting Blindness, Baltimore, Maryland (Drs. Stone and Sheffield); the Roy J. Carver Charitable Trust, Muscatine, Iowa (Drs. Stone and Sheffield); the George Gund Foundation, Cleveland, Ohio (Dr. Stone); the C. S. O'Brien Center for Macular Diseases, Iowa City, Iowa (Dr. Stone); research grants EY08426 (Dr. Stone), P50HG00835 (Dr. Sheffield), and HG00457 (Dr. Sheffield) from the Public Health Service, Baltimore, Maryland; and a development grant to the University of Arkansas and an unrestricted grant to The University of Iowa from Research to Prevent Blindness, Inc., New York, New York. Dr. Stone is a Research to Prevent Blindness Dolly Green Scholar. Reprint requests to Byron L. Lam, M.D., 4301 W. Markham, Slot 523, Little Rock, AR 72205; fax: (501) 686-7037.",
year = "1995",
doi = "10.1016/S0002-9394(14)73815-2",
language = "English (US)",
volume = "119",
pages = "65--71",
journal = "American Journal of Ophthalmology",
issn = "0002-9394",
publisher = "Elsevier USA",
number = "1",
}