Figure  5. .

Clinical characteristics of affected members of F1 and F3, revealing a novel NR2E3-related clinical subtype of adRP. A, Late-stage phenotype in patient III:15 of F1 at age 62 years; composite autofluorescence (AF) (left) and composite fundus (right) of right eye (RE). Note small, relatively well-preserved macular area on fundus picture—although bull’s-eye pattern of hyperautofluorescence can be seen on AF in that area, with two hyperfluorescent rings that have virtually merged into one; also note severe narrowing of retinal vasculature. B, Early-stage phenotype in patient IV:24 of F1 at age 13 years; composite of AF (top) and fundus (bottom left) and late-phase fluorescein angiography (FA) of posterior pole of RE. Note the presence of two hyperautofluorescent rings on AF: one in bull’s-eye pattern around the fovea, another in midperiphery beyond temporal vascular arcades and nasal to optic disc (OD). Also note diffuse chorioretinal atrophy in areas corresponding to hyperautofluorescent rings visible on fundus and angiography picture. The small darker spot above the superior temporal vascular arcade on AF corresponds to a small retinal hemorrhage unrelated to RP phenotype. Discrete narrowing of retinal vasculature is also shown. C, Midstage phenotype in patient IV:23 of F1 at age 31 years. Composite AF (left) and composite fundus pictures (right) of posterior pole of left eye (LE) shows a bull’s-eye pattern with one small, discrete, intensely hyperautofluorescent ring around the fovea and a second, more diffusely hyperautofluorescent ring within area of temporal vascular arcades. Also note nummular areas of hypoautofluorescence above temporal vascular arcade, corresponding to areas of outer retinal atrophy; a dark string-like opacity superotemporal between vascular arcades which corresponds to a floater; marked attenuation of retinal vasculature; choroidal vasculature shining through due to diffuse chorioretinal atrophy, without intraretinal pigmentation; and a good-quality fovea. D, Midstage phenotype in patient IV:9 of F3. Clockwise from right, composite infrared image (IR) of fundus of RE, late phase FA and fundus picture of posterior pole, and optical coherence tomography (OCT) of central macular area of RE at age 16 years. Note cystic degeneration of fovea on IR, fundus picture, and OCT, without progressive fluorescein diffusion (leakage), unlike cystic macular edema, on FA, but identical to cystic degeneration seen in ESCS. IR further shows two whiter concentric rings in bull’s-eye pattern around the fovea, with the larger ring located just inside the temporal vascular arcades; also note sparse spicular pigmentation in inferior periphery and mild attenuation of retinal vasculature. E, Midstage phenotype in patient IV:19 of F1 at age 29 years; composite AF of RE. Note three concentric rings around posterior pole: one in a bull’s-eye pattern around fovea, a second at level of temporal vascular arcades and nasal to OD, and a third in periphery (only depicted inferiorly); hypoautofluorescence due to outer retinal degeneration beyond the peripheral hyperautofluorescent ring; and moderate vascular attenuation.