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. 2019 Aug 1;14:187. doi: 10.1186/s13023-019-1163-9

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© The Author(s). 2019

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Fig. 1 — Model of the localization of retinal ciliopathy proteins for each patient included in the study. Four ciliary compartments can be defined in photoreceptors: the distal cilium, the connecting cilium or proximal cilium, the basal body and the periciliary complex. The distal cilium is occupied by MAK. Proteins in the connecting cilium include CEP290and C2orf71. BBS1 is in the basal bodies domain. USH2A and CLRN1 protein is located at the periciliary complex. FAM161A protein was found in the connecting cilium and basal body [3, 4]