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. 2020 Jun 2;10:8998. doi: 10.1038/s41598-020-65763-x

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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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Quantitative fundus autofluorescence (qAF) in patients carrying mutations in visual cycle (VC) or phototransduction (PT) genes. (a) Representative qAF color maps acquired from patients carrying mutations in VC and PT genes together with age-matched healthy control subjects. Autofluorescence is very low or non-detectable in the presence of mutations in visual cycle genes. (b) qAF-unit values are plotted as a function of age in association with mutations in visual cycle genes (blue circles) and phototransduction genes (green circles). qAF-unit values acquired from patients with mutations in visual cycle genes are negligible and values for phototransduction genes are within the normal range or below normal regardless of age. Genes are indicated.