Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene.
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.


METHODS
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.


CONCLUSIONS
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.
Burstedt
M S
MS
Department of Clinical Sciences/Ophthalmology, University of Umeå, S-901 85 Umeå, Sweden. Ola.Sandgren@ophthal.umu.se
Forsman-Semb
K
K
Golovleva
I
I
Janunger
T
T
Wachtmeister
L
L
Sandgren
O
O
D000293:Adolescent; D000328:Adult; D000368:Aged; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D004594:Electrophysiology; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D020419:Photoreceptor Cells, Vertebrate / Q000502:physiology; D017354:Point Mutation; D012172:Retinaldehyde / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D012189:Retrospective Studies; D013548:Sweden / Q000453:epidemiology; D014792:Visual Acuity; D014794:Visual Fields
C020932:11-cis-retinal-binding protein; D002352:Carrier Proteins; D012172:Retinaldehyde