What treatment options are available for patients with Sturge-Weber syndrome?

Medical care in Sturge-Weber syndrome (SWS) includes antiepileptic medications for seizure control, symptomatic and prophylactic therapy for headache, glaucoma treatment to reduce the intraocular pressure (IOP), and laser therapy for port-wine stain (PWS).

How does Sturge-Weber cause glaucoma?

These observations suggest that glaucoma in Sturge-Weber syndrome is caused by elevated episcleral venous pressure. Most likely, veins draining aqueous from the canal of Schlemm are part of an intrascleral or episcleral hemangioma. The canal of Schlemm itself may be part of the hemangioma.

How does port-wine stain cause glaucoma?

Glaucoma and Other Eye Problems Sometimes a port-wine birthmark on the eyelids creates pressure inside the eye. This is called glaucoma.

What syndrome is associated with port wine stain?

Sturge-Weber syndrome is a disease that affects the skin and nervous system (neurocutaneous) and is associated with Port Wine Stain, red vascular markings on the face and other parts of the body (shown here on the legs).

What is NCT of eye?

The Non Contact Tonometer (NCT), casually referred to as the air puff machine, is a device that measures intraocular pressure. In simpler terms, the air puff measures the pressure of the fluid inside your eye.

What is the prevalence of glaucoma in Sturge-Weber syndrome?

Forty percent of patients develop glaucoma later in childhood or in adulthood. 2,3,9 Congenital glaucoma in Sturge-Weber syndrome is often associated with immature angle development, similar to the angle development seen in primary congenital glaucoma.

What is the pathophysiology of Sturge Weber syndrome?

Sturge-Weber Syndrome and Secondary Glaucoma. These disorders are characterized by hamartomas, which are congenital tumors arising from tissue that is normally found at the involved site. Unlike other phakomatoses, SWS has no hereditary pattern and is caused by a somatic mutation in the GNAQ gene.

What is the prognosis of Sturge-Weber syndrome (SWS)?

Standard treatment for Sturge-Weber syndrome includes laser treatment for the Port-wine stain, anticonvulsants, and medical or surgical treatment for the glaucoma. Prognosis depends on the extent of leptomeningeal involvement and the severity of the glaucoma.

Does Xalatan increase IOP in Sturge-Weber syndrome?

A 10-year-old white male with Sturge-Weber syndrome was referred for evaluation of glaucoma. The patient had developed elevated IOP in his left eye at 6 years of age, and therapy with topical glaucoma medications had maintained an IOP in the high teens. At the time of his presentation, the patient was taking Xalatan (Pfizer Inc.,