PMC3913974_01
Photographs of the right (A) and left (B) eyes. Fundus autofluorescent (FAF) images of the right (C) and left (D) eyes are also shown. The FAF image shows a hypofluorescent lesion in the foveal and perifoveal areas consistent with bull's eye retinopathy. A prominent hypofluorescent lesion is visible in the left eye, indicating a marked atrophy of the retinal pigment epithelium layer. The bull's eye pattern of depigmentation is also evident on fundus photography and fundus autofluorescent images.
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F1
Dilated fundoscopy revealed tilting of the optic nerves in both eyes, consistent with myopia, and a ring-shaped area of RPE depigmentation in the parafoveal area of the left eye (Fig. 1). In the left eye, a prominent hypofluorescent lesion was also noticed on FAF imaging, reflecting marked atrophy of the RPE layer (Fig. 1).
Adaptive optics scanning laser ophthalmoscope (AO-SLO) montage (A,B) and spectral-domain optical coherence tomography (SD-OCT) (C,D) images of both eyes. The vertical SD-OCT images from both the right (A) and left (B) eyes show loss of photoreceptor inner segment/outer segment junctions (moth eaten appearance).
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F2
Unlike the anatomically disrupted areas, which corresponded to the bull's eye lesion, the central fovea had normal thickness and structure on SD-OCT in both eyes (Fig. 2).
Adaptive optics scanning laser ophthalmoscope (AO-SLO) montage from the left eye (A) matched with the corresponding red free image. Magnified AO-SLO images (B,C) are also shown. (B) shows the area indicated by the white box on the montage. For comparison, (C) shows an age-matched normal retina in the same location. As shown in (B), disruptions in the cone mosaic, where cones were missing or lost, is apparent. These disruptions were not present in the normal subject. Additionally, in (B), cones appear to be asymmetrical in shape and size with variable brightness. Scale bar in (B) and (C) = 25 microm.
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F3
In addition, the observed cones were asymmetrical in shape and size and varied in brightness (Fig. 3).
Correlation of structural and functional defects. Humphrey visual field (A) revealed a significant central defect. The adaptive optics scanning laser ophthalmoscope (AO-SLO) montage from the right eye (B) was matched with the infrared image. Images (C), (D), and (E) are magnified AO-SLO images of the locations of visual field defects (white boxes). Images (F), (G), and (H) are images in the same location from an age-matched normal retina. The location and cone density for each figure is shown. The AO-SLO images (C), (D), and (E), show the cone mosaic disruption and dark patchy lesions where cones are missing or lost. Image D had the lowest cone density, and was lower than observed in a normal subject (F,G,H). Cones in images (C), (D), and (E) were asymmetric in shape and size and exhibited variable brightness. Scale bar in (C), (D), and (E) = 25 microm. SR = superior retina; IR = inferior retina; NR = nasal retina.
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F4
When we matched the disrupted areas on the AO-SLO images with the visual field test, the areas with abnormal cone mosaic patterns and low cone density corresponded with the location of visual field defects on HVF (Fig. 4).