Figure 1
From: Adult phenotype and further phenotypic variability in SRD5A3-CDG
Ocular findings. A: Waxy pallor of the optic disc with attenuated retinal vessels and bone spicule-shaped pigment deposits in the periphery (indicated with arrows) in the older patient. B: Blurry fundus due to vitreous degeneration and a posterior subcapsular cataract in the younger brother.