Figure 2.

Representative Retinal Pictures of Index Individuals from the Six Families Affected by RCBTB1-Associated iRD

(F1) Composite fundus picture of the retinal epithelium of individual V:2 shows outer retinal atrophy, which is more pronounced in the retinal periphery with predominantly spicular intraretinal pigmentation, and a better preserved macula. Overall, this is compatible with a diagnosis of RP.

(F2–F6) Fundus pictures show progressive pattern-like reticular dystrophy in the retinal periphery, fine heterogeneity of pigment epithelium alterations, and rounded spots of chorioretinal macular atrophy (which enlarge with age). (F2) Fundus picture of the left eye of II:4 at age 68 years shows features similar to those of II:2 (F6), i.e., some pigment deposits in the form of large brown spots, as well as retinal atrophy. (F3) Fundus picture of the right eye of II:1 shows central coalescent areas with chorioretinal atrophy and peripheral reticular dystrophy. (F4) Second and third panels, right column: fundus picture and autofluorescence of the right eye of II:5 (67 years) show central and peripapillary chorioretinal atrophy. (F5) Fundus picture of the right eye of II:6 at 55 years. A detailed macular view shows a discolored retina, which reflects the retinal atrophy and a few fine pigment deposits. (F6) Left: fundus picture of LE of II:2 displays features similar to those of II:4 (F2). Right: fluorescence angiography of the right eye of II:2 displays irregular hypofluorescent areas in the posterior pole.