Wyburn-Mason syndrome

Wyburn-Mason syndrome is an uncommon condition in which arteriovenous malformations coexist in the visual brain area, in the retina, and in some cases, in the face. As a consequence, it has recently been defined as a brain-retino-facial angiomatosis. The syndrome results from an embryonary insult in the development of the optic nerve path and the related vessels from its origin in the mesencephalon all the way to the projection to the retina where it usually causes unilateral manifestations. Here the authors present an interesting case of this ailment and a review of the literature.