Optic Neuropathy with Features Suggestive of Optic Neuritis in Cerebrotendinous Xanthomatosis

Figure 1

The patient’s enlarged right Achilles tendon (arrow), which indicated xanthoma (A). Funduscopic examination showed mild swelling in the nasal side of the right optic disc (B). Humphrey 30-2 visual field examination revealed a cecocentral scotoma in the right eye (C). OCT of the right eye demonstrated intact thickness of the retinal nerve fiber layer (RNFL) in the macula (D) and increased thickness of the peripapillary RNFL (E). Fluorescein angiography exhibited profuse dye leakage on the right optic disc (B).