Encephalotrigeminal Angiomatosis (Sturge-Weber Syndrome, Klippel-Trenaunay-Weber Syndrome): A Review.

Abstract

Sturge-Weber syndrome (SWS) (encephalotrigeminal angiomatosis) is a phakomatosis associated with port-wine stains of the face, seizures, mental retardation, and usually ipsilateral meningeal vascular malformations. The classic form affects leptomeninges, eyes, and face. Although the precise etiology and pathogenesis are unclear, the postulated defect is primary venous dysplasia with failure of the primordial embryonic venous plexus to regress. A spontaneous somatic mutation in fibroblast fibronectin gene expression in the vascular malformation may occur during embryonic development. Ocular involvement is characterized by conjunctival, episcleral, retinal, and choroidal vascular abnormalities. The vascular lesions have been inconsistently described as angiomas, hemangiomas, and vascular malformations. Based on the endothelial cellular activity, they can be considered vascular malformations (or port-wine stains), which never regress spontaneously. Congenital, developmental, and adult-onset glaucoma are often seen when the malformations involve the distribution of the first branch of the trigeminal nerve.Both mechanical and vascular causes have been proposed to account for the development of glaucoma. The mechanical theory is based on obstruction of aqueous outflow secondary to developmental anterior chamber angle abnormalities, and the vascular theory is based primarily on elevated episcleral venous pressure. Management of glaucoma in patients with SWS is often challenging and is aimed at controlling intraocular pressure and preventing progressive visual loss and blindness. It also carries an increased risk for surgical complications. This review summarizes the literature regarding the genetics, clinical features, and management of ocular complications of SWS with special focus on glaucoma.