Sturge-Weber syndrome (SWS; also known as encephalofacial angiomatosis) is a phakomatosis characterized by ipsilateral facial cutaneous hemangioma (port-wine stain), ipsilateral choroidal cavernous hemangioma, and ipsilateral leptomeningeal angioma associated with cerebral calcifications, seizures, focal neurologic deficits, and a variable degree of cognitive impairment. The condition is usually unilateral but can present bilaterally in rare instances. There is no race or sex predilection, and no inheritance pattern has been established. Glaucoma occurs in up to 70% of children with SWS and is more common when the cutaneous hemangioma involves the upper eyelid skin (Fig 6-11). Glaucoma is also more common in patients with choroidal hemangioma, iris heterochromia, and/or episcleral hemangioma. When glaucoma is seen in infants with this syndrome, congenital angle dysgenesis (similar to that seen in cases of PCG) is thought to be responsible. In these cases, treatment typically consists of angle surgery. However, these surgeries generally have a lower success rate in cases of SWS than in cases of PCG. Glaucoma that develops after the first decade of life may be caused by elevated episcleral venous pressure. Trabeculectomy, or preferably tube shunt surgery, should be performed with caution because of the increased risk of choroidal effusion and choroidal hemorrhage in these patients.
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.