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Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations
Umeå University, Faculty of Medicine, Department of Clinical Sciences, Ophthalmology.
Umeå University, Faculty of Medicine, Department of Medical Biosciences.
Umeå University, Faculty of Medicine, Department of Medical Biosciences, Pathology.
Umeå University, Faculty of Medicine, Department of Clinical Sciences, Paediatrics.
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2013 (English)In: Acta Ophthalmologica, ISSN 1755-375X, E-ISSN 1755-3768, Vol. 91, no 5, 437-444 p.Article in journal (Refereed) Published
Abstract [en]

Purpose: To evaluate phenotypes caused by different RLBP1 mutations in autosomal recessive retinitis pigmentosa of Bothnia type. Methods: Compound heterozygotes for mutations in the RLBP1 gene [c.677T>A]+[c.700C>T] (p.M226K+p.R234W), n=10, aged 7-84years, and homozygotes c.677T>A (p.M226K), n=2, aged 63 and 73years, were studied using visual acuity (VA), low-contrast VA, visual fields (VFs) and optical coherence tomography (OCT). Retrospective VA and VFs, standardized dark adaptation and full-field electroretinograms (ERGs) were analysed and prolonged dark adaptometry and ERG (at 24hr) were performed. Results: Progressive decline of VA and VF areas was age-dependent. Retinal degenerative maculopathy, peripheral degenerative changes and retinitis punctata albescens (RPA) were present. Early retinal thinning in the central foveal, foveal (O 1mm), and inner ring (O 3mm) in the macular region, with homogenous, high-reflectance RPA changes, was visualized in and adjacent to the retinal pigment epithelium/choriocapillaris using OCT. Reduced dark adaptation and affected ERGs were present in all ages. Prolonged dark adaptation and ERG (at 24hr), an increase in final threshold, and ERG rod and mixed rod/cone responses were found. Conclusions: The two RLBP1 genotypes presented a phenotypical and electrophysiological expression of progressive retinal disease similar to that previously described in homozygotes for the c.700C>T (p.R234W) RLBP1 mutation. The uniform phenotypical expression of RLBP1 mutations is relevant information for the disease and of importance in planning future treatment strategies.

Place, publisher, year, edition, pages
2013. Vol. 91, no 5, 437-444 p.
Keyword [en]
electroretinogram, optical coherence tomography, prolonged dark adaptation, retinitis pigmentosa, retinitis punctata albescens, RLBP1
National Category
Family Medicine
URN: urn:nbn:se:umu:diva-79415DOI: 10.1111/j.1755-3768.2012.02431.xISI: 000321626000031OAI: diva2:645526
Available from: 2013-09-04 Created: 2013-08-19 Last updated: 2013-09-04Bibliographically approved

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Burstedt, MarieJonsson, FridaKöhn, LindaBurstedt, MagnusGolovleva, Irina
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