Wyburn-Mason syndrome

Wyburn-Mason syndrome

Neurocutaneous disordersracemose angioma (Wyburn-Mason syndrome): midbrain and retinal arteriovenous malformations.

When encountering patients with markedly dilated and tortuous retinal vessels, Wyburn-Mason syndrome (WMS) or racemous angiomatosis (phacomatosis) is commonly thought of as the archetypal entity that can produce these findings.

Kisilevsky et al. described a patient with Cantu syndrome with phenotypical findings identical to those seen in patients with WMS and want to highlight this as another entity that can present with tortuous and dilated retinal vessels 1).

As with other intracranial and intraocular vascular lesions (e.g., arteriovenous malformation in Wyburn-Mason syndrome, retinal hemangioblastoma in von Hippel Lindau disease, and choroidal hemangioma in Sturge-Weber syndrome), the presence of a vascular lesion in either location should prompt evaluation for additional pathology 2).



Kisilevsky E, Kohly RP, Margolin EA. Dilated and tortuous retinal vessels as a sign of Cantu syndrome. Ophthalmic Genet. 2019 Oct;40(5):453-454. doi: 10.1080/13816810.2019.1666415. Epub 2019 Oct 4. PubMed PMID: 31584310.

Torres G, Kini AT, Al Othman B, Lee AG. Familial Cavernous Hemangioma. J Neuroophthalmol. 2019 Mar 18. doi: 10.1097/WNO.0000000000000778. [Epub ahead of print] PubMed PMID: 30893269.

Leave a Reply