Wyburn-Mason syndrome, also known as Bonnet-Dechaume-Blanc syndrome, is a rare condition characterized by arteriovenous malformations in the retina and optic nerve of one eye and in the CNS (thalamus, hypothalamus and cerebral cortex). The associated maxillofacial lesions lead to asymmetries or typical deformations of the face.

This condition is considered to be congenital, nonhereditary, and without sex or race predilection. Wyburn-Mason syndrome is caused by an anomaly in organogenesis, however the etiology and risk factors are unknown.

The visual symptoms are caused by arteriovenous malformations and depend on the size and location of malformations (retina, optical nerve, chiasma).

Fluorescein angiography shows stable arteriovenous malformations and generally without leakage.

Differential Diagnosis

• Capillary hemangioma