Table 1
Clinical correlates in Wyburn–Mason syndrome
| Aetiology | Not regarded as hereditary |
|---|---|
| Adapted from Albert and Jacobiec.8 | |
| Onset | Adolescence to early adulthood; usually becomes symptomatic before age 30 years |
| Skin | Vascular facial naevi in up to 50% of patients, usually ipsilateral to affected eye. |
| CNS | AV communication of the midbrain may cause cerebral or subarachnoid haemorrhage. |
| Signs of midbrain lesion, hemiplegia, or hemiparesis, cerebellar dysfunction, Parinaud’s syndrome. | |
| Mental changes affecting intelligence and memory. | |
| Seizures in only 5% of patients | |
| Systemic | Associated AV communications of the lungs and spinal cord reported (rare) |
| Eye | Retinal AV communication (retinal AV aneurysm) unilateral, usually non-progressive. |
| Pulsating exophthalmos, proptosis. | |
| Visual loss: secondary to retinal or vitreous haemorrhage, vascular leakage in the macular region, or nerve fibre loss secondary to mechanical compression of the optic nerve or anterior visual pathway. | |
| Ptosis or partial ophthalmoplegia secondary to third nerve involvement in the midbrain | |
