PMC5179294_01
CHM proband fundi: A-B, Color fundus photograph demonstrating atrophy of the choroid and RPE, with subretinal fibrosis present centrally in the left eye (B). C-D, Fundus autofluorescence showing an island of preserved RPE in the macula in the right eye (C) and corresponding fibrosis in the left eye (D).
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F1
Fundus exam and fundus autofluorescence (FAF) revealed significant atrophy of the choroid with the exception of a crescent-shaped region of preservation in the macula (Figure 1A and 1C). Additionally, white subretinal fibrosis was present centrally in the left eye (Figure 1B).
CHM proband OCT: A-B, Horizontal OCT scan through macula revealing RPE atrophy and loss of overlying photoreceptor and outer nuclear layer. Foveal thickening and cystoid macular edema is present in the right eye (A). Central subretinal fibrosis is seen in the left eye (B). C-H, En-face OCT angiography- 3x3 mm en-face images at the level of the deep retinal vasculature, showing preserved flow (C&F); choriocapillaris, showing loss of flow in the choriocapillaris with prominence of choroidal vessels (D&G); choroid, showing prominence of medium and large size vessels secondary to loss of choriocapillaris and RPE cells (E&H).
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F2
OCT demonstrated diffuse RPE atrophy as well as loss of overlying photoreceptor and outer nuclear layer (Figures 2A and 2B). Foveal thickening, outer retinal tubulations, and cystoid macular edema were present on the right (Figure 2A), while central subretinal fibrosis was present on the left (Figure 2B). En-face OCT angiography (Zeiss Meditec Cirrus 5000, Dublin, CA) showed prominent choroidal vasculature secondary to the relative absence of choriocapillaris and RPE on the 3x3 mm slabs (Figures 2E and 2H). In contrast to the relatively preserved deep retinal vasculature on en-face OCT angiography (Figures 2C and 2F), there was dramatically decreased flow in the choriocapillaris (Figures 2D and 2G), which appeared to correspond to areas of RPE atrophy visible on FAF.
PMC5179294_02
Obligate CHM carrier fundi: A-B, Fundus photographs showing patchy peripheral pigmentary mottling with areas of hypopigmentation and pigment clumping. C-D, Fundus autofluorescence revealing corresponding hyperfluorescence in hypopigmented areas.
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F3
Slit-lamp exam was unremarkable, but fundus exam revealed patchy peripheral pigmentary mottling with areas of hypopigmentation and pigment clumping in both eyes (Figure 3A and 3B). FAF imaging showed corresponding hyperfluorescence in areas with pigmentary change (Figure 3C and 3D).
Obligate CHM carrier OCT: A-B, Horizontal OCT scans through macula revealing subtle RPE and ellipsoid zone changes. C-H, En-face OCT angiography- 3x3 mm en-face images at the level of the deep retinal vasculature with preserved flow (C&F); choriocapillaris (D&G) and choroid (E&H) slabs with subtle areas of flow void (yellow arrows).
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F4
Horizontal OCT scan through the macula demonstrated subtle abnormalities in the RPE and ellipsoid zone in both eyes (Figure 4A and 4B). OCT angiography of the deep retinal vasculature revealed no obvious abnormalities (Figure 4C and 4F), while slabs through the choriocapillaris and choroid showed flow voids more prominent in the right than the left eye. (Figures 4D-E, G-H, yellow arrows). Overall, the choriocapillaris was significantly more preserved in the mother than in her son; thus the larger choroidal vessels were not as well visualized on OCT angiography.