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• W2018311211 abstract "Retinal dystrophy in Bardet–Biedl Syndrome (BBS) is caused by defective genes that are expressed within ciliated cells such as photoreceptors. The purpose of this study was to characterize and compare the retinal structure and lamination of two groups of patients, carrying mutations in BBS1 or BBS10. Eight patients with BBS (ages 11.9–28.5 years) and mutations in BBS1 (4/8) or BBS10 (4/8) were tested. A high-resolution hand-held probe Fourier-domain optical coherence tomography system (Fd-OCT) was used for retinal image acquisition. Macular scans were evaluated with respect to structure, retinal layering and photoreceptor integrity. Micro-structural in-vivo analysis showed abnormalities within retinal layers but preserved retinal lamination. Photoreceptor integrity was disrupted in all patients. Macular scans from patients with BBS10 mutations most often showed ‘deposits’ adjacent and anterior to Bruch’s membrane. Age, genotype and presence of macular changes did not correlate with the structural changes observed. Retinal dystrophy in BBS is reflected by major changes in the outer retinal layers. This is the first report of in-vivo micro-structural analysis of retinal layers in patients with BBS. Mutations in different BBS genes seem to be associated with similar micro-structural changes in retinal layers." @default.
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• W2018311211 date "2008-02-01" @default.
• W2018311211 modified "2023-10-10" @default.
• W2018311211 title "Retinal morphology in patients with BBS1 and BBS10 related Bardet–Biedl Syndrome evaluated by Fourier-domain optical coherence tomography" @default.
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• W2018311211 doi "https://doi.org/10.1016/j.visres.2007.08.024" @default.
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