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Wyburn-Mason Syndrome is a rare, non-inherited vascular disorder characterized by the presence of large, abnormal tangles of blood vessels (arteriovenous malformations or AVMs) affecting the eye, the brain, and sometimes the skin.
read more about wyburn mason syndrome ...The cause is unknown, but the condition involves a developmental error during foetal life that leads to the abnormal formation of arteries and veins. The defects bypass the normal network of capillaries, creating a high-pressure shunt between the arteries and veins. This systemic malformation can occur anywhere but is clustered in the visual pathway. The condition is not inherited, but congenital (present at birth).
Symptoms depend on the location and size of the malformations. Brain AVMs can cause headaches, seizures, and a severe risk of hemorrhage (bleeding). Skin and mucosal lesions may be present on the face. The high-pressure shunts can lead to rapid neurological deficits if they bleed.
Wyburn-Mason Syndrome severely impacts eye health, as the AVMs are often located in the retina, orbit, or brain. Retinal AVMs can cause bleeding, vein occlusion, and reduced vision. Orbital AVMs can cause proptosis (bulging of the eye), severe swelling, and pain, often leading to total vision loss.
Diagnosis relies on specialized imaging. Fluorescein angiography is used to visualize the abnormal retinal vessels. Magnetic Resonance Imaging (MRI) and CT angiography are necessary to map the AVMs in the brain and orbit, as these malformations pose a significant risk of rupture.
Necessary treatment focuses on preventing rupture and managing symptoms. Treatment often involves embolization (blocking the vessels with surgical material) or radiation therapy to shrink the AVMs. Surgery may be performed when the malformations are easily accessible and threaten life or vision.
The malformations are permanent, but they can be managed with embolization or radiation to prevent rupture.
Yes, AVMs in the brain carry a significant risk of hemorrhage, which is a type of hemorrhagic stroke.
The disorder is usually unilateral (affecting one eye and one side of the brain).
If you see a "cluster of red vessels" on the white of your eye or have unexplained seizures, consult a neurologist. Wyburn-Mason involves "Racemose Angiomas" (tangled vessels) in the retina and brain. A doctor must perform an MRI to ensure these vessels aren't at risk of bleeding into the brain.
AAO. Wyburn-Mason Syndrome (aao.org). 2024.
NINDS. Arteriovenous Malformations (ninds.nih.gov). 2024.
Mayo Clinic. Brain AVM (mayoclinic.org). 2024.
StatPearls. Wyburn-Mason Syndrome (ncbi.nlm.nih.gov). 2024.