FIGURE 2.

Clinical findings from subject 5: (A) fundus photographs reveal typical signs of RCD/RP, including a waxy pallor of the optic discs, narrowed retinal vessels, and pigmentary changes outside the vascular arcardes; (B) short‐wavelength fundus autofluorescence imaging shows a patchy loss of autofluorescence in the periphery, a normal autofluorescence appearance at the fovea and some patches of loss of autofluorescence in the parafoveal region; (C) horizontal SD‐OCT scans show a loss of hyperreflective bands and a thinning of the outer nuclear layer, outside the foveal region, with a well preserved outer retina at the fovea and some intraretinal cysts parafoveal on the right eye; (D) kinetic visual fields are severely constricted for both eyes; (E) audiometry shows a loss of sensitivity for the higher frequencies for both ears.