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. 2020 Mar 26;10:5497. doi: 10.1038/s41598-020-62119-3

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© The Author(s) 2020

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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Fundus and autofluorescence findings of four representative cases with EYS-associated retinal disease (EYS-RD). (A) A 43-year-old female (2-III:2) diagnosed with retinitis pigmentosa (RP) harbouring homozygous variants (c.[2528 G > A];[2528 G > A], p.[(Gly843Glu)];[(Gly843Glu)]) in the EYS gene, showing retinal atrophic changes along the vessel arcade. (B) A 17-year-old male (22-II:2) diagnosed with RP harbouring homozygous variants (c.[4957dupA];[4957dupA], p.[(Ser1653Lysfs*2)];[(Ser1653Lysfs*2)]) in the EYS gene, showing retinal atrophic changes outside the vessel arcade. (C) A 50-year-old female (11-II:1) diagnosed with cone-rod dystrophy (CORD) harbouring two pairs of homozygous variants (c.[2528 G > A;c.7394 C > G];[2528 G > A;c.7394 C > G], p.[(Gly843Glu);(Thr2465Ser)];[(Gly843Glu);(Thr2465Ser)]) with relatively high allele frequency (AF) in the EYS gene, showing retinal atrophic changes within the vessel arcade. (D) A 39-year-old male (23-II:1) diagnosed with CORD harbouring compound heterozygous variants (c.[4957dupA];[8805 C > A], p.[(Ser1653Lysfs*2)];[(Tyr2935*)]) in the EYS gene, showing retinal atrophic changes within the vessel arcade.