PMC4405538_01
Initial presentation. (A,B) Color fundus photograph shows white multifocal placoid lesions with atrophic and pigmentary retinal pigment epithelium changes, predominantly in the right eye. (C) Fluorescein angiography of the right eye in the early phase. (D) Fluorescein angiography of the right eye in the late phase.
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F1
Hyperpigmentation, atrophy, and RPE mottling were observed, predominantly in the right eye (Figure 1A-B). The degree of hyperfluorescence increased over the course of the angiogram, with late staining (Figure 1C-D).
Follow-up at 3 years. (A) Fundus appearance of the right eye shows central pigmented lesions with diffuse retinal pigment epithelial atrophic changes. (B) Fundus autofluorescence reveals diffuse areas with decreased autofluorescence and centrally located lesions with absent autofluorescence, corresponding to the marked reduction of retinal sensitivity. (C) Spectral-domain optical coherence tomography at the fixation point indicated by the white dashed line in B shows hypertrophic lesions with accentuated hyperreflectivity at the level of the retinal pigment epithelium and partial disruption of the inner segment/outer segment junction. (D) Fundus photography of the left eye shows that the cream-colored lesions have resolved, leaving a diffuse area of pigmentary and atrophic changes. (E) Diffuse areas of decreased autofluorescence that co-localized with slight reductions in sensitivity are observed. (F) Spectral-domain optical coherence tomography reveals normal macular structure with an intact outer retinal layer.
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F2
Over the next 3 years, the lesions appeared to be fading, replaced by hyperpigmentation and atrophy (Figures 2A and 2D, page 76). Fundus autofluorescence (FAF) imaging of the right eye revealed areas of decreased fluorescence with absent autofluorescence areas corresponding to the pigmented lesion, indicating decreased visual function (Figure 2B). A spectral-domain optical coherence tomography (SD-OCT) scan of the fixation point revealed a disruption with partial disappearance of the inner/outer segment (IS/OS) line (Figure 2C). Although slightly decreased autofluorescence and foveal sensitivity were noticed in the left eye, the SD-OCT findings were nearly normal (Figure 2E-F).
(A) A montage of adaptive optics scanning laser ophthalmoscopy images from the right eye is superimposed on the fundus autofluorescence image with MP1 sensitivities. (B) Enlarged composite adaptive optics scanning laser ophthalmoscopy images of the regions outlined with a dashed white line in A reveal hyperreflective regions with dark annuli. (b1-b4) Higher-magnification views of the boxed regions of the larger montage images in A. (b1) A nearly continuous and regular cone mosaic pattern. (b2-b4) Dark areas devoid of normal wave-guiding cones and highly reflective regions are observed in the magnified image. (C) Spectral-domain optical coherence tomography at the point indicated by white dashed line in B, demonstrating dark areas correlate with the absence of an inner/outer segment junction and hyperreflective regions consistent with the dome-shaped hyperreflective deposit. The area with disrupted and/or abnormal cells in b2 is depicted by a white dashed line, and the left side of the white dashed line shows a less compact distribution of cones including dark lesions which are indicated by white lines. Through the comparison with other images, b3 may only include the disrupted and/or abnormal cells. Typical dark lesions in b2 and b4 are indicated by white lines.
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F3
AO-SLO of the right eye revealed an island of coarse, hyperreflective speckles surrounded by a dark annulus without any cones (Figure 3A-B, markers b2-b4, page 77), indicating a reduction of foveal sensitivity corresponding to the pigmented lesions (Figure 3A). AO-SLO images (Figure 3B-C). AO-SLO images of the left eye included some dark areas where the cone cells were damaged or lost (Figures 4A and 4C, page 78).
(A) A montage of adaptive optics scanning laser ophthalmoscopy (AO-SLO) images from the left eye is superimposed on the fundus autofluorescence image with MP1 sensitivities. (B) Enlarged composite AO-SLO images of the regions outlined with dashed white lines in A. Markers b1-b3 indicate higher-magnification views of the boxed regions of the larger montage images in A. (b1 shows grossly continuous and normal cone mosaic patterns, but b2 and b3 reveal that normal cone cells are not observed within the dark lesions because they have been damaged or lost. (C) Spectraldomain optical coherence tomography at the point indicated by the white dashed line in B shows normal macular structure with an intact outer retinal layer. Typical dark lesions in b2 and b3 are indicated by white lines.
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F4
AO-SLO images (Figure 3B-C). AO-SLO images of the left eye included some dark areas where the cone cells were damaged or lost (Figures 4A and 4C, page 78). These patterns were not observed in areas of the retina that were less affected and were clearly differentiated from artifacts or blood vessels (Figure 4B). SD-OCT images of the dark lesions showed intact IS/OS junctions and macular structures with a grossly normal appearance (Figure 4C) that were not associated with decreased foveal sensitivity (Figure 4A).