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. 2019 Jan;60(1):282–293. doi: 10.1167/iovs.18-25624

Figure 2.

Figure 2

Clinical imaging. Proband (II:1). Family pedigree shown with arrow indicating proband (A). Sanger sequence analysis of exon 8 of affected individual (B, top) compared with control (B, bottom). Color montage fundus photos of OD (C) and OS (D) showing regions of vascular attenuation and peripheral pigmentary changes. Optical coherence tomography (OCT) imaging of the macula of OD (E) and OS (F) indicating generalized retinal atrophy. Goldmann perimetry of OD (G) and OS (H) indicating significant scotomas throughout with peripheral islands of vision. Mother (I:2). Color montage fundus photos from mother in the OD (I) and OS (J) showing significant vascular attenuation, peripheral pigmentary changes, and regions of choroidal atrophy. OCT imaging of the macula of mother from the OD (K) and OS (L) indicate generalized retinal atrophy along with formation of epiretinal membrane in OS. Goldmann perimetry from mother in OD (M) and OS (N) indicate significant scotomas with peripheral islands of vision. Sibling (II:2). Fundus photo of the posterior pole from OD of sibling (O) indicate vascular attenuation with pigmentary changes. OCT imaging of macula of OD from sibling indicate significant retinal atrophy (P). Goldmann perimetry from sibling indicate significant central scotoma with preservation of peripheral islands of vision (Q).