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. 2022 Sep 17;8:387. doi: 10.1038/s41420-022-01185-0

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© The Author(s) 2022

Open Access This 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 license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license 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 license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 1 — A Five generation pedigree denoting the presence of ocular disease. Males and females, are represented by squares and circles, respectively. The symbols of affected family members are filled. B Fundus images of the proband’s left (L) and right (R) eye taken at the time of case registration 2011, on follow-up 2012 and again in 2014. Waxy pallor disc (marked by white arrow head), pigmentary deposits (marked by one sided arrow) and attenuated arterioles (marked by double sided arrow). C SD-OCT images of the proband’s retinal layers: left (L) and right eye (R) were taken on follow-up 2012 (left two panels) and follow-up 2014 (right two panels). Mild central hyper reflectivity suspicious of scars were marked with arrows. Thinning of the retinal layers was observed.