Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene
MSI Burstedt, K Forsman-Semb… - Archives of …, 2001 - jamanetwork.com
Objective To describe the phenotype of Bothnia dystrophy, an autosomal recessive retinal
dystrophy with an R234W mutation in theRLBP1gene encoding cellular retinaldehyde-
binding protein. Design Medical records were reviewed retrospectively. Ophthalmologic
examination, including kinetic perimetry and, in selected cases, adaptometry, color vision
tests, fluorescein angiography, and electrophysiologic studies, was performed. The study
included 24 individuals, all homozygous for an R234W mutation in theRLBP1gene. Results …
dystrophy with an R234W mutation in theRLBP1gene encoding cellular retinaldehyde-
binding protein. Design Medical records were reviewed retrospectively. Ophthalmologic
examination, including kinetic perimetry and, in selected cases, adaptometry, color vision
tests, fluorescein angiography, and electrophysiologic studies, was performed. The study
included 24 individuals, all homozygous for an R234W mutation in theRLBP1gene. Results …