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. 2020 Jan 28;10:1289. doi: 10.1038/s41598-019-57338-2

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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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Retinal imaging from the right eye of patients with NNO or MCOP due to mutations in MFRP. Left panel: color fundus. Middle panel: fundus autofluorescence imaging (FAF). Right panel: optical coherence tomography (OCT). F5: color fundoscopy showing crowded optic disc, mid-peripheral intraretinal hyperpigmentation with corresponding hypo-autofluorescence on FAF, foveal hypoplasia and intraretinal cystic cavities on OCT. F6: mid-peripheral hypopigmentary retinal pigment epithelium (RPE) changes with corresponding hyper- and hypo-autofluorescence on fundus autofluorescence imaging (FAF), cystic macular cavities on optical coherence tomography (OCT). F7: posterior pole and mid-peripheral hyper- and hypo-pigmentary RPE change with corresponding hyper- and hypo-autofluorescence on FAF, thickened OCT with foveal hypoplasia. F8: color fundoscopy with crowded optic disc, slight peripheral intraretinal hyperpigmentation and large posterior pole white dots corresponding with hyper- and hypo-autofluorescence on FAF imaging, foveal hypoplasia and cystic macular cavities on OCT. F9: color fundoscopy showing crowded optic disc and normal autofluorescence on FAF imaging, thickened OCT with foveal hypoplasia and occasional intraretinal cyst.