Figure 3.

Intrafamilial variation in RHO-associated dystrophy caused by the p.Gly106Arg variant. Two siblings are presented with changes reflecting early and presymptomatic pericentral change (Case 1) and generalized RP (Case 2). (A,D) Widefield color images, (B,E) macular OCT line scan centered on the fovea, and (C,F) fundus autofluorescence are presented for the left eye for both cases. Manual Goldmann kinetic perimetry is presented from the left eye for both cases (G, Case 1; H, Case 2). The case number and age of the patient is noted in the figure, and a description of the corresponding clinical features and results of testing can be found in Table 1 and Table 2. Clinical imaging for the sibling’s mother (Case 9) is presented, including color imaging (I), OCT (J), and fundus autofluorescence (K), demonstrating a pericentral pattern of anatomic involvement, with a predominant inferior sectoral band of atrophy, as seen in other patients with p.Gly106Arg-associated dystrophy in this case series.