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Ocular phenotype of Bothnia Dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene.
Umeå University, Faculty of Medicine, Clinical Sciences.
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2001 In: Arch Ophthalmol, Vol. 119, no 2, 260-7 p.Article in journal (Refereed) Published
Place, publisher, year, edition, pages
2001. Vol. 119, no 2, 260-7 p.
URN: urn:nbn:se:umu:diva-3331OAI: diva2:141982
Available from: 2004-01-09 Created: 2004-01-09Bibliographically approved
In thesis
1. Bothnia dystrophy, a clinical, genetical and electrophysiological study
Open this publication in new window or tab >>Bothnia dystrophy, a clinical, genetical and electrophysiological study
2003 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

A high frequency of retinitis pigmentosa (RP) is found in Northern Sweden. In an inventory of autosomal recessive RP patients in Västerbotten County, a great number of cases with a unique phenotype was noticed, denoted Bothnia Dystrophy (BD). The aim of the study was to describe the phenotype, to determine the chromosomal location, and to identify the gene.

Patients typically show night blindness from early childhood. Symptoms of defect macular function with a decrease of visual acuity can appear in early adulthood. The retinal fundus shows irregular white spots in a central, and parafoveal pattern along the arcades. Centrally areolar maculopathy develops and round circular atrophies are observed in the periphery.

The disease was shown to be associated with a missense mutation in the RLBP1 gene resulting in an amino acid substitution (R234W) in the cellular retinaldehyde-binding protein (CRALBP). The R234W mutation was found in a homozygous state in 61 patients affected with BD. Ten patients were heterozygous for the R234W mutation, and presented a similar phenotype. No additional mutations in the coding sequence or exon-intron junctions were found. CRALBP is localised in retinal pigment epithelium (RPE), and Müller cells of the retina. In the RPE, CRALBP functions as a carrier protein for endogenous retinoids.

Dark adaptometry and electrophysiologic testing showed an initial loss of rod function followed by a progressive reduction of the cone responses in older ages. A compromised rod function, dysfunction of the Müller cells, and indications of a disturbed function of the inner retina were found. With prolonged dark adaptation, a gradual increase in retinal sensitivity to light and an improvement of the ERG components occurred. The findings indicate a prolonged synthesis of photopigments, retardation of the visual process in the retinal pigment epithelium and a loss of retinal cells probably starting at a relative early age in BD.

To evaluate the subjective visual function in BD patients, a battery of objective tests of visual function and composite score of the 25-item NEI-Visual Function Questionnaire (VFQ-25) were analyzed. We found that weighted distance logMAR visual acuity (WVA), had the strongest association with subjective visual function, and that there was a considerable loss of subjective and objective visual function with increasing age in BD patients. The prevalence of BD is as high as 1:3600 in Västerbotten County.

The possibility that recycling of retinoids localized in the RPE might be impaired in BD might give future therapeutic possibilities. Due to the large and clinically well-characterized set of patients with this disease, they constitute a suitable study group.

Place, publisher, year, edition, pages
Umeå: Umeå university, 2003. 2 p.
Umeå University medical dissertations, ISSN 0346-6612 ; 859
Ophtalmology, retinal pigment epithelium, retinitis pigmentosa, neural retina, electroretinogram, cellular retinaldehyde-binding protein, dark adaptometry, retinal degeneration, Oftalmiatrik
National Category
Research subject
urn:nbn:se:umu:diva-179 (URN)91-7305-533-6 (ISBN)
Public defence
2003-11-21, Sal B, 9 tr, Tandläkarhögskolan, Norrlands Universitetssjukhus, Umeå, 10:00 (English)
Available from: 2004-01-09 Created: 2004-01-09 Last updated: 2011-04-08Bibliographically approved

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