What is the definition of Wyburn-Mason Syndrome?

Wyburn Mason's syndrome is a condition in which blood vessels do not form correctly in both the retina of one eye and a part of the brain.  These malformed blood vessels are called arteriovenous malformations (AVM).  Wyburn Mason's syndrome is present from birth (congenital) and the cause is unknown.  Individuals with this condition may have additional AVMs in other parts of the body, particularly the face.  The symptoms of this condition are quite variable and depend on the size, location, and shape of the AVMs.  Affected individuals may have no symptoms or may experience headaches, problems with vision, seizures, or partial paralysis (hemiparesis).  Treatment usually consists of periodic visits to the doctor to see if the AVMs are changing over time.

What are the alternative names for Wyburn-Mason Syndrome?

  • Arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes
  • Wyburn Mason syndrome
  • Bonnet-Decaume-Blanc syndrome
  • CAMS2
  • Cerebrofacial arteriovenous metameric syndrome type 2

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