PMC3015235_01
Fundus photographs of the right (A) and left (C) eye showing a mild, granular appearance of the perifoveal RPE and normal light reflex at the fovea. Enlarged views of the fovea of the right (B) and left (D) eyes are shown.
nihms181096f1.jpg
PMC3015235_01_nihms181096f1.jpg
F1
Dilated fundus examination was notable for a mild, granular appearance of the perifoveal RPE for each eye (Figure 1 A-D).
Fluorescein angiography of the right eye at 22 seconds shows the mild, granular appearance of the perifoveal RPE with hyperfluorescence from a few window defects.
nihms181096f2.jpg
PMC3015235_01_nihms181096f2.jpg
F2
A fluorescein angiogram showed a granular perifoveal appearance with hyperfluorescence from a few window defects (Figure 2).
Autofluorescence and corresponding spectral domain OCT images through the fovea of the right (A) and left (B) eye of this patient with cone-rod dystrophy 6. The autofluorescence image of each eye shows a mild perifoveal ring of hyperfluorescence demarcated by the vertical lines. The SD-OCT image of each eye shows irregularities at the layers representing the junction of the inner segments and outer segments (IS/OS) as well as the photoreceptor outer segments. The vertical lines on the SD-OCT image correspond to the vertical lines on the autofluorescence image. The outer pair of vertical lines on the SD-OCT image also marks the boundaries of the SD-OCT abnormalities, thus demonstrating a correlation between the SD-OCT abnormalities and the area of the hyperfluorescent ring seen on autofluorescence imaging. High magnification images of each SD-OCT are shown for each eye. These images show abnormalities (black arrow) of the IS/OS junction and the photoreceptor outer segments, suggestive of loss of the structural integrity of the photoreceptors. The lower right inset image for each eye demonstrates that the layer corresponding to the retinal pigment epithelium complex is thinner at the fovea, as measured with calipers (double headed arrows).
nihms181096f4b.jpg
PMC3015235_01_nihms181096f4b.jpg
F4
These abnormalities start at the IS/OS junction and include the outer segment layer, suggesting lost or abnormal photoreceptor outer segments (Figure 4 A-B). Autofluorescence (Spectralis HRA-OCT, Heidelberg Engineering, 488 nm) images revealed a mild, perifoveal ring of hyperfluorescence (Figure 4 A-B) in each eye.