Wyburn-Mason Syndrome: A Case Report

Purpose: To describe a case of Wyburn-Mason Syndrome, which is characterized by arteriovenous malformations in the central nervous system and the retina. Case summary: A 13-year-old girl who underwent neurosurgical intervention for intraventricular hemorrhage was referred to our ophthalmic clinic because brain angiogram and MRI finding revealed arteriovenous malformations (AVMs) that extended from the orbit and optic chiasm along the optic pathway. Fundus and fluorescein angiography of the left eye showed marked dilation and tortuosity of the retinal vessels. Fluorescein angiographic findings showed rapid filling of all vessels and no dye leakage. Conclusions: Retinal racemose hemangioma should be considered for Wyburn-Mason syndrome, and the finding of retinal AVMs should warrant cerebral imaging studies including MRI and angiography.