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. 2014 May 1;94(5):760–769. doi: 10.1016/j.ajhg.2014.04.003

Figure 1.

Figure 1

Color Fundus Photographs, Fundus Autofluorescence Images, and Foveal Optical Coherence Tomographs of the Right Eyes of Subjects CD1, CD2, CD3, and CD5

Images from subjects CD1 (aged 35 years; A), CD2 (aged 45 years; B), and CD5 (aged 53 years; D) are highly similar. Fundus autofluorescence imaging revealed a high-density concentric perifoveal ring surrounding irregular foveal autofluorescence in subjects CD1, CD2, and CD5; outside this ring, normal signal was observed (A, B, and D). In subject CD3 (aged 46 years; C), hypoautofluorescent patches were noted in the fovea and parafovea; this was combined with irregular autofluorescence outside the foveal region, suggesting more generalized retinal pigment epithelial dysfunction (C). Optical coherence tomography revealed abnormalities consistent with photoreceptor loss; they were either confined to the foveal region (subjects CD1, CD2, and CD5) or observed throughout the scan (subject CD3). Scale bars represent 200 μm.