(I–R) Retinal imaging, including multicolor scanning laser fundal images of the eyes, of the three affected siblings in family 2 (II:1, II:4, and II:5) shows granular alterations of the retinal pigment epithelium and subtle spicule formation, particularly around the major vascular arcades, and arteriolar attenuation (I, II:1; J, II:4; K, II:5). Autofluorescence images show stippled hypo-autofluorescence areas concentrated around the arcades (L, II:1) and hyper-autofluorescence around fovea (M, II:4; N, II:5). Horizontal optical coherence tomography scans demonstrate thinning of the outer nuclear layer and loss of ellipsoid and external limiting membrane lines with preservation of inner retinal lamination in all three siblings (O, II:1; P, II:4; Q, II:5). A horizontal optical coherence tomography scan of a healthy control individual is shown for comparison (R).