Parapapillary Optic Nerve Head Drusen in Leber Congenital Amaurosis

Ophthalmic Surgery, Lasers & Imaging Retina
Vinod Kumar, Prasad Gupta

Abstract

A 20-year-old male who was known to have Leber congenital amaurosis was assessed. Best-corrected visual acuity was counting fingers in both eyes (OU). Anterior segment OU revealed poorly reacting pupils and nystagmoid movements. Dilated fundus examination revealed widespread bone spicule pigmentation with "macular coloboma" OU (Figure a and b). Short-wave autofluorescence showed hyperautofluorescent buried optic nerve head drusen and generalized hypoautofluorescence OU (Figure c and d). Additionally, the left eye showed parapapillary drusen resulting from calcification of swollen and disrupted axons at a remote location in the parapapillary area (blue arrows; Figure b and d). The presence of buried optic nerve head drusen OU gives a clue to the diagnosis of parapapillary drusen, which can be easily mistaken for retinal astrocytoma. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:554.].

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