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- Burstedt, Marie S I, et al.
(författare)
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Retinal function in Bothnia dystrophy. An electrophysiological study.
- 2003
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Ingår i: Vision Research. - 0042-6989 .- 1878-5646. ; 43:24, s. 2559-2571
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Tidskriftsartikel (refereegranskat)abstract
- Using prolonged dark adaptometry, standard dark adaptation (DA) and prolonged DA full-field electroretinograms (ERGs), we analysed the retinal function in patients with Bothnia dystrophy (BD), a variant of recessive retinitis punctata albescens (RPA). A compromised rod and cone function, a likely dysfunction of the Müller cells, and indications of disturbed neuronal function of the inner retina, were found. With prolonged DA, 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 (RPE), and a loss of retinal cells, probably starting at a relatively early age in BD.
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- Köhn, Linda, et al.
(författare)
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PITPNM3 is an uncommon cause of cone and cone-rod dystrophies.
- 2010
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Ingår i: Ophthalmic Genetics. - : Informa Healthcare. - 1381-6810 .- 1744-5094. ; 31:3, s. 139-140
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Tidskriftsartikel (refereegranskat)abstract
- The first mutation in PITPNM3, a human homologue of the Drosophila retinal degeneration (rdgB not not) gene was reported in two large Swedish families with autosomal dominant cone dystrophy. To establish the global impact that PITPNM3 has on retinal degenerations we screened 163 patients from Denmark, Germany, the UK, and USA. Four sequence variants, two missence mutations and two intronic changes were identified in the screen. Thus, mutations in PITPNM3 do not appear to be a major cause of cone or cone-rod dystrophy.
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