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. 2021 Apr 20;105(9):1272–1279. doi: 10.1136/bjophthalmol-2020-318544

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© Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

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Representative cases from the four categories. Fundus photographs and fundus autofluorescence (FAF) images showing characteristic phenotypical features of the four categories are demonstrated: ABCA4 retinopathy, EYS retinopathy, RP1L1 retinopathy and normal. Fundus photographs: ABCA4 retinopathy: macular atrophy and yellowish flecks at the level of RPE; EYS retinopathy: peripheral retinal atrophy, vessel attenuation and pigmentation at the level of RPE; RP1L1 retinopathy: normal fundus appearance; normal: normal appearance. FAF images: ABCA4 retinopathy: an area of low AF density at the macula and foci of abnormal AF; EYS retinopathy: diffuse abnormality of low AF in the peripheral retina and a ring of AF enhancement at the macula; RP1L1 retinopathy: abnormal AF density at the fovea; normal: normal appearance. FAF, fundus autofluorescence; RPE, retinal pigment epithelium.