Figure 1. Clinical Imaging.

A-F. Proband (III:1). Color fundus images showed perifoveal pigment atrophy in a bull's eye pattern that was pronounced in autofluorescent imaging. SDOCT revealed foveal thinning (arrows), loss of outer plexiform layer, ellipsoid and interdigitation line in both eyes with preservation of this structure outside macular. G-L. Affected Brother (III:3). A similar bull's eye pattern with marked RPE atrophy was also observed in color fundus, autofluorescent, and SD-OCT images. M- T. Manifest carrier (II:2). Fundus images showed minimal RPE alteration in her right fovea and a normal appearance in her left. AF revealed a Bull's eye pattern with peripapillary atrophy in her right eye. The left eye appeared normal. A minimal hyperautofluorescent patch was observed in the temporal macula of both eyes. This corresponded to a prominent tapetal reflex (arrow) on red free imaging with a radial pattern of hyperreflectance in the posterior and middle periphery. U. The pedigree was consistent with an x-linked inheritance pattern. The proband is indicated with an arrow. Black symbols represent clinically affected subjects with a Bull's eye pattern from cone dystrophy. Open symbols represent unaffected subjects. The carrier subject is shown with a smaller black symbol inside an open symbol. Deceased individuals are marked by a slash. (RPE – retinal pigment atrophy; SD-OCT spectral domain OCT.)