FIGURE 3.

CEP290-ASSOCIATED RETINAL DEGENERATION

Wide field fundus (top, left) and autofluorescence images (top, right), and optical coherence tomography image (bottom) from the right eye of a 15 year old with retinal degeneration due to two null mutations in the CEP290 gene. Note the mid-peripheral bone spicule pigmentation (Top, left and right) and relative preservation of the photoreceptor layer centrally (bottom), consistent with a clinical diagnosis of RP. At the time these images were taken, the patient had visual acuity of 20/20 and 20/25, but mid-peripheral visual field loss. Full field ERG testing showed reduced but relatively well preserved scoptopic and photopic responses.