Abstract
Abstract Purpose The retinal diseases in the RP group associated with affected recycling of retinoids in the visual cycle is now being recognized in populations worldwide. The RLBP1 mutations are here summarized and the phenotype known so far is presented. Methods A presentation of literature in the RLBP1 mutations and the phenotype of Bothnia Dystrophy (BD) with ophthalmologic findings and full‐field electroretinography (ERGs) findings after 24 hours of dark adaptation are presented. Results The phenotype (BD) in this group is described, an early progressive maculopathy, retinitis punctata albescens (RPA) as well as peripheral retinal degenerative changes is found. An extremely prolonged dark adaptation (24h) in the BD disease is presented and the full‐field ERG (24h) show the rod b‐wave and the mixed rod‐cone a‐wave responses reached normal but delayed amplitudes in the ERGs, the increase of the oscillatory response up to normal level was found and no recovery of the cone response was found. Conclusion The phenotypes of RLBP 1 mutations worldwide and in Sweden show similarities in the expression and may be represented by the phenotype of BD. The unique findings of extremely prolonged DA and a significant and additional capacity of recovery of rod function and activity in the inner retinal layer and a continuous but slow regeneration of rod photopigment seems to occur at least up to 24h. The visual process in the RPE is retarded but also the Müller cells of the retina seem to be involved. The findings support an extremely slow synthesis of photopigments and an irreversibly disturbed cone function early in BD.
Published Version
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