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. 2021 Apr 21;9:664317. doi: 10.3389/fcell.2021.664317

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Copyright © 2021 Ascari, Rendtorff, De Bruyne, De Zaeytijd, Van Lint, Bauwens, Van Heetvelde, Arno, Jacob, Creytens, Van Dorpe, Van Laethem, Rosseel, De Pooter, De Rijk, De Coster, Menten, Rey, Strazisar, Bertelsen, Tranebjaerg and De Baere.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Representative ophthalmological pictures of individuals from F1 and F3 carrying CEP78 structural variants. (I) F1, II:1. (I-A) Color fundus photograph of LE with normal optic disk, minimal narrowing of retinal arterioles, RPE mottling around the temporal vascular arcades, no bone spiculae. (I-B) BAF of the RE with hyperautofluorescent ring surrounding the fovea and granular hypo-autofluorescence around the temporal vascular arcades. (I-C) Spectral-domain OCT of the LE depicting loss of perifoveal photoreceptor layer and better foveal quality with loss, however, of integrity of photoreceptor outer segments. (II) F3, II:1. (II-A) Eye fundus of the left eye with perifoveal fine, granular, yellowish material upon close inspection. Normal aspect of optic disk, peripheral retina, and retinal vessels. (II-B) Close-up of the macular area, demonstrating the fine, granular, yellowish material encircling the fovea. (II-C) BAF of the LE without obvious abnormalities. (II-D) Fluorescein angiography of the LE with normal fluorescence. (II-E) Near-infrared imaging of the LE (hyperintense circular area is an artifact). (II-F) Spectral-domain OCT of the LE, revealing a mottled aspect of the ellipsoid zone and subfoveal collection of fluffy material. Enlarged and flat foveal depression. BAF, blue-light autofluorescence imaging; OCT, spectral-domain optical coherence tomography; RE, right eye; LE, left eye; RPE, retinal pigment epithelium.