Ocular Manifestations of Congenital/Inherited Diseases

This 38-year-old man had unexplained poor vision in his left eye all his life and was told that he had some type of congenital vascular anomaly. He had no neurocutaneous problems. The photographs demonstrate a complex arteriovenous malformation with dilated loops of veins extending out from the nerve head into the periphery and heading back toward the disc. Also note the direct vascular channels connecting arterioles to venules. MRI demonstrated a vascular malformation in the left suprasellar cistern. Disease/Diagnosis: Wyburn-Mason Syndrome.