PMC6110976_01
A, B. Ultra-wide-field color images suggest subtle pigment mottling in the macula, with unremarkable vascular networks, optic nerves, and retinal periphery. C, D. Ultra-wide-field fluorescein angiography shows normal filling and no leakage. E, F. Fundus autofluorescence demonstrates symmetric areas of hyperautofluorescence slightly temporal to the fovea in both eyes
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F1
The vitreous, retinal vessels, and peripheral retina were unremarkable in both eyes (Figure 1: A, B). Ultra-widefield fluorescein angiography was also unremarkable in both eyes (Figure 1: C, D). Fundus autofluorescence showed symmetric areas of hyperautofluorescence slightly temporal to the fovea, bilaterally (Figure 1: E, F).
A, C. Near-infrared reflectance shows a bullseye pattern with concentric rings of hypo- and hyperreflectivity in both eyes. B, D. Optical coherence tomography B-scans show a diffused nodular thickening and irregularities of the central ellipsoid zone associated with thinning and poor delineation of the inter-digitation zone in both eyes. The choroid appears thickened in both eyes
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F2
The scanning laser ophthalmoscopy near infrared reflectance (NIR) images revealed a bullseye pattern with concentric rings of hypo- and hyper-reflectivity, bilaterally, (Figure 2, A, C) and the optical coherence tomography (OCT) B-scans demonstrated diffused nodular thickening and irregularities of the central ellipsoid zone associated with thinning and poor delineation of the inter-digitation zone. The choroid appeared thickened. (Figure 2, B, D).
A. Full-field ERG shows reduced cone amplitudes, normal rod responses, and normal implicit times in both eyes. B. Multi-focal ERG shows reduced amplitudes throughout the macula in both eyes
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F3
Full-field ERG showed reduced cone amplitudes, normal rod responses, and normal implicit times in both eyes (Figure 3: A). Multifocal ERG revealed reduced amplitudes throughout the macula in both eyes (Figure 3: B).
Adaptive optics scanning light ophthalmoscope images of the patient reveal multiple dark spots in the cones mosaic, not seen in the controls, consistent with loss or non-waveguiding photoreceptors at increasing eccentricities from the foveal center in both eyes (0.5, 3, 5, 7 degrees from Umbo).
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F4
OCT (Figure 4). OCT angiography demonstrated normal flow in the superficial and deep retinal capillary layers and choriocapillaris. (Figure 5: A-F).
En face OCT angiography (OCT-A) of the central 3x3 mm taken at 1-week follow-up shows normal microvasculature in the right eye (A, B, C) and the left eye (D, E, F). A and D are segmented at the level of the superficial retinal capillary plexus. B and E are segmented at the level of the deep retinal capillary plexus. C and F are segmented at the level of the choriocapillaris.
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F5
OCT (Figure 4). OCT angiography demonstrated normal flow in the superficial and deep retinal capillary layers and choriocapillaris. (Figure 5: A-F).
Examination 3 months following presentation. A, C. Near infrared reflectance (NIR) of the right eye (A) and the left eye (C) B, D. The OCT B-scans at the level of the corresponding area on panels A and C (green lines) evidence partial restoration of the ellipsoid zone with residual mottling. E, F. The optic nerve OCT scans demonstrate normal nerve fiber layer thickness in both eyes.
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F6
The outer retinal changes partially improved leaving some diffuse mottling of the ellipsoid zone layer with absence of the interdigitation zone layer on OCT scans. (Figure 6: A-D) The optic nerve scans showed normal values of retinal nerve fiber layer thickness. (Figure 6: E, F)