Contributor: Gordon K. Klintworth
Sturge-Weber syndrome (encephalotrigeminal angiomatosis) is a phakomatosis consisting of congenital vascular malformations manifested by nevus flammeus and capillary hemangiomas [hemangioma - capillary] of the brain and meninges. Other manifestations of the syndrome that sometimes occur include intracranial calcification, mental retardation, contralateral hemiplegia, and epilepsy. The condition is usually unilateral. The affected eye may exhibit heterochromia iridis (darker iris than the opposite eye). The ocular adnexa may also appear darker than normal due to a capillary hemangioma of the episclera, conjunctiva, and eyelid. A hemangioma of the choroid [hemangioma - choroid] is common and glaucoma frequently develops as a late complication. If it develops glaucoma is usually ipsilateral, but in the occasional patient with bilateral vascular anomalies the glaucoma can involve both eyes. The anterior chamber angle of the affected eye appears normal and resembles that in eyes with primary infantile glaucoma [glaucoma - primary infantile] suggesting that the two conditions share a common developmental anomaly. Factors contributing to the glaucoma include anomalous development of the anterior chamber angle structures and elevated episcleral venous pressure. In the glaucomatous eyes episcleral hemangiomas are extremely common and the episcleral venous pressure is high suggesting that arteriovenous shunts in the episcleral hemangioma elevate the venous pressure and hence raise intraocular pressure. A web site provides information for patients on Sturge-Weber syndrome (http://www.sturge-weber.com).