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. 2021 Apr 9;21:168. doi: 10.1186/s12886-021-01919-1

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© The Author(s) 2021

Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. 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 in a credit line to the data.

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Fig. 4 — Imaging of the proband’s younger sister (II/4). Images (a to f) at review aged 56, at 38 years after diagnosis. Optos imaging showing atrophic maculae (a and b). Autofluorescence (AF) shows loss of signal centrally corresponding to atrophy with a surrounding band of increased AF within the arcades (c and d. optical coherence tomography (OCT) imaging showing the temporal extent of the loss of the ellipsoid zone demarcated by yellow arrows. e and f. Images (g to l) showing increased atrophy after a 4-year interval. Optos imaging shows increased bilateral macular atrophy (g and h). AF imaging shows extension of patchy AF surrounding the central atrophy with a small preserved foveal remnant (i and j). OCT showing further extension of the loss of the ellipsoid zone demarcated by the yellow arrows