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. 2017 Nov 20;128(1):190–206. doi: 10.1172/JCI95161

Figure 1. Spectrum of disease severity in patients with CNGB1-associated RP.

Figure 1

Color fundus montages and corresponding AF images of the left eye of patient 1 (p.Phe1051Leufs*12 homozygous) (A), patient 6 (p.Leu849Profs*3; p.Lys175Glnfs*4) (B), and the right eyes of patient 7 (p.Cys632*; p.Phe1051Leufs*12) (C) and patient 8 (p.Arg762Cys homozygous), illustrating typical presentations of RP features: (B–D) waxy pallor of the optic disc, severe attenuation of the retinal vasculature (white arrowheads), and bone-spicule pigment clumping in the mid-periphery (insets). (A) The left macula of patient 1 (p.Phe1051Leufs*12 homozygous) shows largely unremarkable features for retinal degeneration. REC+ thickness is defined as all visiblelayers between the inner nuclear layer-outer nuclear layer (INL/ONL) complex and the Bruch’s membrane-choroidal (BM/Choroid) interface.