PMC5179284_01
A, Color fundus montage photographs at presentation showing vascular tortuosity and macular atrophy with pigment mottling and intra-retinal pigment migration in the periphery. B, Fundus autofluorescence showing hypo-autofluorescent round shaped areas of RPE atrophy. C, OCT showing areas with attenuated outer retinal layers and hyper-reflective choroid secondary to RPE atrophy.
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F1
Dilated fundus exam revealed bilateral vascular tortuosity and macular atrophy with pigment mottling and intra-retinal pigment migration in the periphery (Figure 1a). Fundus autofluorescence showed multiple hypo-autofluorescent round shaped areas of macular retinal pigment epithelium (RPE) atrophy (Figure 1b). Spectral domain OCT revealed a hyper-reflective choroid secondary to RPE atrophy (Figure 1c).
A, Color fundus montage photographs 4 years later showing increased macular atrophy with pigment mottling and intra-retinal pigment migration in the periphery. B, Fundus autofluorescence showing increased areas of hypo-autofluorescence. C, OCT showing increased attenuation of outer retinal layers and outer retinal tubulations with hyper-reflective choroid secondary to RPE atrophy.
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F2
While the anterior segment examination remained unchanged, the dilated fundus exam revealed increased macular retinal and RPE atrophy (Figure 2a). Fundus autofluorescence showed marked spread in hypo-autofluorescent areas (Figure 2b), while OCT revealed more diffuse areas of RPE thinning now with outer retinal tubulations (Figure 2c).
6 x 6 mm en-face OCT angiography at the level of the choriocapillaris showing enhanced visualization of choroidal vasculature.
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F3
Additionally, OCT angiography revealed enhanced visualization of the choroidal vasculature secondary to RPE atrophy (Figure 3).
ERG at 4 years follow up (DTL) showing an extinguished scotopic response, decreased maximal response, decreased single flash photopic response, and delayed and decreased 30-Hz flicker (note decreased scale compared to normal in patient's ERG for single flash photopic and 30-Hz flicker).
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F4
ERG at this time revealed loss of scotopic response yielding a flat wave, decreased maximal response with apparent electronegative curve with 11.5 candela-seconds per meter squared intensity flashes, as well as delayed (33 milliseconds) and decreased 30-Hz flicker responses (approximately 25 microvolts of peak amplitudes bilaterally) (Figure 4).