FIGURE 1.

Clinical findings from subject 1: (A) fundus photography. Midperipheral is a zone of atrophy resembling a bull's eye maculopathy. The retinal vasculature is mildly attenuated. Nasally and superior of the optic disc intraretinal pigmentation as bone spicules are present. The retinal vasculature was mildly attenuated, and intraretinal pigmentation as bone spicules could be observed, mostly located nasally and superior to the optic disc. The peripheral retina was relatively preserved. (B) FAF. A normal foveal autofluorescence, a hyper‐autofluorescent perifoveal border, two concentric zones with consecutive one hypo‐autofluorescent and a larger hyper‐autofluorescent area, a confluent pattern of hypo‐autofluorescence around the vascular arcades and a normal autofluorescent peripheral retina. FAF imaging showed a normal foveal autofluorescence demonstrating the foveal sparing in this subject, a hyper‐autofluorescent perifoveal border, two concentric zones with consecutive one hypo‐autofluorescent and a larger hyper‐autofluorescent area, a confluent pattern of hypo‐autofluorescence around the vascular arcades and a normal autofluorescent peripheral retina. (C) On OCT, there was a thinned retina due to the loss of the outer retinal layers in the perifoveal area without cystoid spaces. Full‐field electroretinography (ERG) showed combined scotopic and photopic dysfunction, which was more pronounced for the scotopic responses, indicating rod‐cone dysfunction. (D) A ring scotoma between 10° and 20°. Central visual field testing showed a ring scotoma between 10° and 20°. Goldmann's peripheral visual field detected only a mild reduction of the peripheral borders.