Wyburn-Mason Syndrome

A 6-year-old boy presented with light perception vision and an afferent pupillary defect in the right eye. Dilated fundus examination disclosed large, dilated, and tortuous vessels (Fig 1A). Optical coherence tomography showed intraretinal and subretinal fluid (Fig 1B, arrow) along the maculopapillary bundle. Magnetic resonance imaging revealed right optic canal/orbital apex enhancement (Fig 1C, arrow) and small serpiginous vessels with flow-voids along the posterior orbit (Fig 1D, arrow). Ophthalmologic and neuroradiologic findings were consistent with Wyburn-Mason syndrome – a congenital, sporadic, unilateral, asymptomatic disorder without racial or gender predilection characterized by retinal/intracranial arteriovenous malformations.