Wyburn-Mason Syndrome: A Narrative Review

Wyburn-Mason syndrome is a rare congenital disorder characterized by arteriovenous malformations (AVMs) in the retina, brain, and occasionally the skin. The syndrome results from embryonic vascular abnormalities and presents with a wide spectrum of clinical manifestations, classified into three groups based on severity. Diagnosis relies heavily on imaging techniques, with optical coherence tomography (OCT) and cerebral angiography playing crucial roles. Management is typically conservative due to the stability of most AVMs, but intervention may be necessary when the rupture risk of intracranial AVMs exceeds 2.2% per year. Treatment options include endovascular embolization, surgical resection, and emerging therapies like intravitreal injections. This review emphasizes the importance of a multidisciplinary approach involving ophthalmologists, neurologists, and interventional radiologists, as well as regular monitoring of asymptomatic AVMs to optimize patient outcomes and quality of life.