ABSTRACT
Wyburn–Mason syndrome is associated with unilateral retinal racemose hemangioma. Rarely, it presents with bilateral and symmetrical grade of malformation. We describe a 37-year old male, who presented with Wyburn–Mason syndrome presenting with bilateral but asymmetrical retinal hemangioma. The eye with advanced grade of hemangioma was complicated with exudation, intraretinal fluid, neurosensory detachment, and reduced vision. He was treated with one intravitreal injection of bevacizumab, after which both the intraretinal fluid and neurosensory detachment resolved. His vision improved and was maintained till 1 year of follow-up.
ABSTRACT
PURPOSE: To describe a case of Wyburn-Mason Syndrome, which is a rare phakomatosis, and its associated optical coherence tomography findings. CASE SUMMARY: A 5-year-old boy was referred to our clinic for decreased vision in his right eye. He had nevus flammeus on his right forehead, upper eyelid, and cheek. His best corrected visual acuity was hand motion in the right eye, in which a relative afferent pupillary defect was noted. Fundus examination of the right eye showed marked dilation and tortuosity of retinal vessels, which could not be discriminated between arteries and veins on the posterior pole. Optical coherence tomography showed multiple large intraretinal vessels without involvement of the internal limiting membrane. Cerebral angiography revealed arteriovenous malformations (AVMs) and feeder vessels from the internal carotid artery to the ophthalmic artery, extending to the ethmoidal artery in the nasal cavity. CONCLUSIONS: Wyburn-Mason syndrome is a rare phakomatoses and shows unique retinal AVM. Misdiagnosis or undertreatment of Wyburn-Mason syndrome can lead to serious complications. Patients with facial nevus flammeus should undergo thorough ocular examinations to rule out this disorder. Optical coherence tomography is a useful method for understanding structural features of retinal vascular malformations in Wyburn-Mason syndrome.
Subject(s)
Child, Preschool , Humans , Male , Arteries , Arteriovenous Malformations , Carotid Artery, Internal , Cerebral Angiography , Cheek , Diagnostic Errors , Eyelids , Forehead , Hand , Membranes , Methods , Nasal Cavity , Neurocutaneous Syndromes , Nevus , Ophthalmic Artery , Port-Wine Stain , Pupil Disorders , Retinal Vessels , Retinaldehyde , Tomography, Optical Coherence , Vascular Malformations , Veins , Visual AcuityABSTRACT
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.