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. 2022 Jan 18;23(3):1014. doi: 10.3390/ijms23031014

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© 2022 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).

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Clinical findings in a patient harbouring p.(Trp431*) and p.(Asp262Gly) in ABCA4. Mac-ular affection, fundus flecks and peripapillary sparring (diagnostic triad) are shown on (A) colour fundus image, (B) fundus infrared image and (C) FAF image. On corresponding (C1,C2) SD-OCT images, (arrowheads) hyperautofluorescent flecks, (arrow) RPE atrophy and (rectangle) peripapillary sparing can also be observed. Patient’s best corrected Snellen decimal visual acuity was 0.1 on both eyes. Scale bars: 200 µm. Source: Eye Hospital, University Medical Centre Ljubljana.