Suzanne de Bruijn

220 Chapter 4 Figure S6. Detailed Retinal Imaging with Fundus Autofluorescence (FAF) and Optical Coherence Tomography (OCT). The blue arrow heads mark the temporal border of the ring of increased signal where present. The yellow arrow heads mark areas of cystoid macular edema (A, B, C) . The orange arrow heads mark on the OCT scans the border of the residual ellipsoid zone (EZ). Bone spicules are visible in the mid periphery on FAF in cases (A, B, D) . (A) Affected individual from family NL1 (NL-SV1). (B) Affected individual from family UK13 (UK-SV6). Affected individuals shown in (C) and (D) are from UK1 (UK- SV2). Two consecutive generations are shown, mother (C) and daughter (D) . Note the slow structural disease progression indicated by these cases, with minimal change in the BCVA, due to sparing of the foveal EZ (orange arrow heads). The ring of increased signal decreases in size over time (blue arrow heads), with small areas of decreased signal (atrophy) developing and increasing in these same regions over time (green arrow heads). yr, years old; BCVA, best corrected visual acuity; LogMAR, Logarithm of the minimum angle of resolution.