Sturge-Weber Syndrome (Encephalotrigeminal Angiomatosis): Recent Advances and Future Challenges

Sturge-Weber syndrome (SWS) is a congenital, sporadically occurring, neurocutaneous syndrome that presents classically with port-wine stain, leptomeningeal angiomas, and glaucoma. The systemic implications of SWS are vast and involve not only ophthalmic manifestations but also dermatologic, neurologic, and oral manifestations. Neuroimaging, in particular, plays an important role in the diagnosis and management of this disease. Recent discoveries have been made regarding the genetic pathogenesis of SWS. In addition, recent advances have been made in the management of the 2 most common ophthalmic manifestations of SWS: diffuse choroidal hemangioma and glaucoma. Despite these new contributions to the field, many challenges still remain. The management of diffuse choroidal hemangioma is wide ranging and includes photodynamic therapy, brachytherapy, radiotherapy, and antivascular endothelial growth factor injections, but all have had limited or varied success. Although there have been recent advances in knowledge and technique, the management of glaucoma is extremely complex, given the high surgical risks for complications and a poor response rate to medical therapy. Further studies are critical to maximize our knowledge of this difficult disease.