Figure 2

Ophthalmic features in patient B. A – C) Fundus images of the right eye showing pronounced asteroid hyalosis (A). Pigment epithelial atrophy and moderate pigmentary retinopathy are present in the mid-periphery. The macula, optic disc and retinal vessles are normal (B). Areas resembling pigmented and nonpigmentet small congenital hypertrophy of the retinal pigment epithelium were present (C). D) Optical coherence tomography showing a normal macula (top) but peripheral retinal pigment layer degeneration and disturbances in the photoreceptor layer (bottom).