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Marie S. I. Burstedt, MD; Kristina Forsman-Semb, PhD; Irina Golovleva, MD, PhD; Tomas Janunger, BSc; Lillemor Wachtmeister, MD, PhD; Ola Sandgren, MD, PhD

Arch Ophthalmol. 2001;119:260-267.

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, was performed. The study included 24 individuals, all homozygous for an R234W mutation in the RLBP1 gene.

Results  Patients typically show night blindness from early childhood. In young adults, retinitis punctata albescens was observed, followed by macular degeneration and a decrease in visual acuity that led to legal blindness in early adulthood. Dark adaptometry and electrophysiologic testing showed an initial loss of rod function followed by a progressive reduction of the cone responses in older ages.

Conclusions  Bothnia dystrophy is a unique retinal dystrophy belonging to the rod-cone dystrophies and has a high prevalence in northern Sweden. Fifty-seven cases of Bothnia dystrophy have been diagnosed, indicating a prevalence as high as 1 per 4500 population in the geographic area studied. A defect ability of mutated cellular retinaldehyde-binding protein to bind retinoid probably explains the defect rod function followed by central and peripheral degeneration.

Clinical Relevance  Retinal dystrophies associated with other mutations of the RLBP1 gene, including retinitis pigmentosa of Bothnia type, might account for a considerable number of cases of autosomal recessive retinitis pigmentosa in other geographic areas as well.

From the Departments of Clinical Sciences/ Ophthalmology (Drs Burstedt, Wachtmeister, and Sandgren) and Medical Biosciences/ Medical Genetics (Drs Forsman-Semb and Golovleva and Mr Janunger), University of Umeå, Umeå, Sweden; and Department of Molecular Biology, AstraZeneca, Mölndal, Sweden (Dr Forsman).

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