PMC3898029_01
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.
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F1
In both patients, eye examination showed bilateral horizontal nystagmus, bilateral posterior subcapsular cataract, bilateral optic disk hypoplasia, thinning of the retinal arterioles, bilateral optic atrophy, and retinal bone spicule pigmentation (Figure 1).