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. Author manuscript; available in PMC: 2021 Apr 28.
Published in final edited form as: Ann Eye Sci. 2020 Sep 15;5:25. doi: 10.21037/aes-20-81

Figure 4.

Figure 4

Retinal Imaging of Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy (LCA/EOSRD). (A-E) Fundus autofluorescence (FAF) imaging with corresponding horizontal trans-foveal optical coherence tomography (OCT). (A) GUCY2D - LCA/EOSRD; relatively preserved outer retinal structure on OCT and normal appearing FAF. (B) CEP290 - LCA/EOSRD; preserved foveal architecture on OCT, despite profound functional loss, and FAF imaging with a perifoveal hyperautofluorescent ring. (C) CRB1 - LCA/EOSRD; nummular pigmentation, maculopathy, relative preservation of para-arteriolar RPE on FAF, and intraretinal cystoid spaces on OCT. (D) RDH12 - LCA/EOSRD; FAF shows a centrally decreased signal with atrophy extending peripherally in a variegated watercolour-like fashion. OCT shows severe loss of structure and macular atrophy. (E) RPE65 - EOSRD; reduced signal on FAF imaging and OCT showing preserved structure at the central macula. (F) NMNAT1 - LCA; near infrared imaging and corresponding OCT scan, of a patient with severe and extensive maculopathy.