By Linda Rozell-Shannon, MS, President and Founder of the Vascular Birthmarks Foundation (www.birthmark.org). Medical Editing by Dr. Aaron Fay of the Mass. Eye and Ear and VBF’s leading eye specialist.

The purpose of this article is to provide some plain-language facts for individuals affected by glaucoma, which is the most serious eye problem of Sturge Weber Syndrome (SWS). Note: SWS is a condition that involves 3 components: vascular malformation or stain of the eye, skin, and the central nervous system. You can have eye problems, even glaucoma, and not have SWS.

· Glaucoma is the most common serious eye problem of SWS, with a reported incidence of 30-70%. It is defined as an increase in intraocular pressure which causes pathological changes in the optic disk and typical defects in the field of vision.

· The reason for this increased eye pressure (glaucoma) may be the result of either the outflow obstruction by a vascular malformation of the front area of the eye, the choroid or elevated venous pressure associated with an episcleral vascular malformation/stain.

· Eye problems for individuals with Sturge-Weber Syndrome and/or a Port Wine Stain but NO Sturge Weber Syndrome is usually a result of a vascular malformation or stain of the conjunctiva (delicate area that lines eyelids), episclera (white eyeball tissue), retina (an inner lining or membrane of the eyeball) and choroid, (area that furnishes blood to the retina). These are conditions that affect the eye itself. There can also be eyelid enlargement from a vascular stain, called tissue hypertrophy. This hypertrophy may or may not affect the function of the eye. Tissue hypertrophy can cause a significant astigmatism and visual impairment. So, there are two types of eye problems, those that affect the function and health of the eye, and those that affect the tissue around that eye (and may or may not result in functional problems for the eye).

· Most eye physicians (ophthalmologists) and vascular birthmark experts agree that an eye problem can occur if there is a vascular stain on the eyelids.

· A condition where the involved eye can have a darker colored iris (Heterochromia) may occur in Sturge-Weber Syndrome individuals.

· Various experts’ report that nearly 50% of all infants diagnosed with a port wine stain on the eyelid will be at risk for glaucoma. Involvement of the upper eyelid has the highest association with SWS.

· Glaucoma associated with SWS usually affects only one eye, but in rare cases can affect both eyes.

· Individuals with upper and/or lower eyelid involvement but no glaucoma are still at risk for late-onset glaucoma. It can occur in late childhood or adulthood.

· 60% of the glaucoma in SWS cases is diagnosed in early infancy (when the eye is susceptible to the stretching effects of increased intraocular pressure—glaucoma). These infants can have enlarged corneal diameters and myopia (actual eye enlargement called Buphthalmos). For the other 40%, glaucoma begins later in childhood or early adulthood. When it is late onset, there is usually no eye enlargement.

· Most doctors agree that the management of glaucoma associated with SWS is difficult. Lifelong anti-glaucoma drugs with a potential for systemic side effects are frequently needed and often multiple surgical procedures are needed.

· Infants and young children with glaucoma who present with corneal clouding, which is due to the high pressure from the increase in blood flow, seldom respond adequately to the antiglaucoma medications over a long period of time. Thus, for this age group, medication is usually combined with surgery. Older patients can usually be managed with medication alone.

· Treatment of SWS should always involve an ophthalmologic physician who is a glaucoma expert and is familiar with this syndrome. Eye exams should be conducted under anesthesia and performed at least every six months.

· The management of glaucoma in SWS relies on a combination of drug therapy and surgery. The lifelong use of multiple types of antiglaucoma medications and repeated surgical procedures is the norm. The drug industry is continually improving antiglaucoma medications, with fewer systemic side effects. Additionally, new surgical approaches to improve the success of filtration surgery; along with the development of surgical procedures to lower episcleral venous pressure will greatly improve the management of complications associated with eye problems and SWS.

REFERENCES:

Cheng, Kenneth P., MD “Ophthalmologic Manifestations of Sturge-Weber Syndrome”
From Sturge-Weber Syndrome, edited by John B. Bodensteiner, MD. 1999. (Sturge Weber Syndrome Foundation).

Bodensteiner, John B., MD “Sturge-Weber Syndrome” From Facial Plastic Surgery Clinis of North America. Volume 9, Number 4, November 2001, as edited by Dr. Marcelo Hochman.

Mulliken, John B., MD and Young, Anthonly E., MD. Vascular Birthmarks: Hemangiomas and Malformations. WB Saunders Company. 1988.

April 2005