Figure 2.

Family trees and colour imaging, fundus autofluorescence (FAF), and spectral domain optical coherence tomography (SD-OCT) imaging of patients I, II and III. The top panel shows the pedigrees of each family, the arrow indicates the proband. (A) Imaging of Patient I showing a dense concentric band of pigment and atrophy, extending from the arcades into the mid peripheral retina (i,ii); increased autofluorescence signal at both maculae (iii,iv), and central preservation of the retina on optical coherence tomography (v,vi). (B) Imaging of Patient II showing concentric pigment clumping in the mid peripheral retina that is more pronounced in the temporal and nasal regions (i,ii); mildly increased AF at both maculae and decreased AF extending from the vascular arcades into the midperiphery (iii,iv); significant focal thickening at the fovea in the ellipsoid zone (EZ) and, in the right eye, an incipient lamellar hole (v,vi). (C) Imaging of patient III shows a concentric band of atrophy, pigment, and white dots extending from the arcades into the mid peripheral retina (i,ii); with an increased autofluorescence signal at both maculae (iii,iv), and central preservation of the retina on optical coherence tomography (v,vi). (vii–viii) in each panel are OCT images with segmentation highlighting the ganglion cell layer in purple and the inner plexiform layer in blue (see Supplementary Table S2 for measurements).