Figure 6.

Longitudinal findings of a patient (Family 17-II:3 JU0514) with autosomal recessive cone-rod dystrophy. Multimodal retinal imaging findings of the left eye are shown at ages of 46, 51, 53, 57, and 67 years. Fundus photography shows macular atrophy with foveal sparing (arrowheads) at 46 years of age (A), and gradual enlargement toward not only the mid-peripheral retina, but also the fovea, resulting in an increasingly smaller area of foveal sparing (arrowheads) (B–D). At 67 years of age, retinal atrophy presented at the posterior pole and peripheral retina and the area of foveal sparing disappeared (E). Fundus autofluorescence and hypo-autofluorescence (AF) reveal hypo-AF within arcade vessels and hypo-fluorescence at the macular, with hyper-fluorescence surrounding the area, indicating severe retinal atrophy (D,E). OCT reveals progressive thinning of the outer retinal layers and retinal pigment epithelium, including the fovea (D,E). Full-field electroretinography (ERG) was performed at the ages of 53 and 67 years. ERG initially shows preserved rod responses and severely decreased cone responses (F). Fourteen years later, ERG reveals more progressive deterioration of rod responses than cone responses (F).