Article
Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene.
Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Feb 2001
Burstedt M S, Forsman-Semb K, Golovleva I, Janunger T, Wachtmeister L, Sandgren O
Abstract excerpt
OBJECTIVE: To describe the phenotype of Bothnia dystrophy, an autosomal recessive retinal dystrophy with an R234W mutation in the RLBP1 gene 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,...
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