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. 2019 Dec;5(6):a004481. doi: 10.1101/mcs.a004481

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© 2019 Ragi et al.; Published by Cold Spring Harbor Laboratory Press

This article is distributed under the terms of the Creative Commons Attribution-NonCommercial License, which permits reuse and redistribution, except for commercial purposes, provided that the original author and source are credited.

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Figure 1. — Retinal phenotype of a patient with Leber congenital amaurosis (LCA) due to compound heterozygous mutations in the PROM1 gene. (A) Wide-angle fundus photograph of the right and left eyes showing thinning of the vessels. No pigmentary clumps were seen. (B) Short-wavelength autofluorescence images showing absent signal on the periphery and a bull's eye appearance at the fovea. (C) SD-OCT unveils a blurred ellipsoid zone line at the fovea that is absent on the periphery in both eyes. The internal layers are well delineated.