Sturge-Weber Syndrome & Glaucoma
A port-wine birthmark around the eye or forehead can be a sign of Sturge-Weber syndrome, a condition that carries a significantly increased, often lifelong, risk of glaucoma requiring specialized care.
Overview
Sturge-Weber syndrome is a rare condition present from birth, best known for causing a port-wine stain birthmark, typically on the forehead and upper eyelid, along with abnormal blood vessel development affecting the brain's covering (leptomeningeal angiomatosis) and, frequently, the eye. When the birthmark involves the eyelid, the risk of associated glaucoma rises substantially.
The mechanism is distinct from most other glaucomas: abnormal, elevated pressure within the small veins on the surface of the eye (episcleral veins) makes it harder for the normal fluid inside the eye to drain, which raises internal eye pressure.
Symptoms
- A port-wine stain birthmark on the forehead, eyelid, or around the eye, present from birth
- In infants with early-onset glaucoma, excessive tearing, light sensitivity, and an enlarged, cloudy-appearing eye (buphthalmos), similar to congenital glaucoma
- In later-onset cases, gradual painless vision loss, as in other chronic glaucomas
- Possible associated seizures or neurologic symptoms from the brain-vessel involvement, which are managed by neurology alongside eye care
How Common Is It?
Sturge-Weber syndrome itself is rare. Among patients who have it with eyelid or periocular involvement of the port-wine stain, studies estimate that glaucoma develops in a substantial proportion — commonly cited figures range from roughly 30% to 70% — making eye involvement one of the most important complications to screen for.
Roughly half of affected patients develop glaucoma in infancy, while the other half develop it later in childhood or even adulthood, which is why monitoring doesn't stop after an initial normal exam in infancy.
Genetics & Risk Factors
Sturge-Weber syndrome is caused by a somatic mutation in the GNAQ gene, meaning it arises spontaneously in a group of cells during early development rather than being inherited from a parent or reliably passed on to future children.
The extent of the port-wine stain, particularly whether it involves the upper eyelid, correlates with the likelihood of eye and brain involvement, which is why the pattern of the birthmark itself is clinically important.
Ocular Findings on Exam
A hallmark exam finding is visibly dilated, tortuous episcleral veins on the surface of the eye, reflecting the elevated venous pressure that underlies the glaucoma mechanism.
Other possible findings include a choroidal hemangioma (an abnormal vascular growth in the back of the eye) and, in early-onset cases, an enlarged cornea and Haab's striae similar to congenital glaucoma.
Testing & Diagnosis
- Examination under anesthesia in infants and young children, as with congenital glaucoma
- Careful assessment of episcleral vein appearance
- Corneal diameter measurement and gonioscopy
- Dilated exam for choroidal hemangioma
- Brain MRI to assess the extent of leptomeningeal involvement, coordinated with neurology
- Lifelong periodic eye pressure and optic nerve monitoring, even after an initially normal exam
Treatment Options
Eye Drops
Standard IOP-lowering medications are used first-line for later-onset or milder cases.
Surgery for Early or Severe Cases
Goniotomy or trabeculotomy, similar to congenital glaucoma surgery, is often used for infants or for pressure that isn't controlled with drops alone.
Specialized Surgical Precautions
Because of the elevated episcleral venous pressure, glaucoma surgery in Sturge-Weber patients carries a higher risk of choroidal effusion or hemorrhage (fluid or blood accumulating behind the eye during surgery), so procedures are planned with specific preventive measures to reduce this risk.
Coordinated Neurology Care
Given the associated brain vessel involvement and seizure risk, eye care is coordinated with a neurology team managing the systemic aspects of Sturge-Weber syndrome.
How This Differs From Other Glaucomas
The underlying mechanism — elevated pressure in the episcleral veins on the surface of the eye, rather than disease within the trabecular meshwork itself — is distinct from most other glaucomas on this page, and it also elevates surgical risk in a specific, predictable way (choroidal effusion), requiring specialized precautions during any glaucoma surgery.
Care is also inherently multidisciplinary: because Sturge-Weber syndrome affects the brain and skin as well as the eye, glaucoma management is coordinated with neurology in a way that isolated eye conditions typically don't require.
Frequently Asked Questions
Does every child with a port-wine stain have Sturge-Weber syndrome?
No. Most port-wine stains are simple birthmarks. However, when the birthmark involves the upper eyelid and forehead (the distribution of the first branch of the trigeminal nerve), the risk of associated Sturge-Weber syndrome, including glaucoma, is meaningfully higher and warrants evaluation.
Why does this cause glaucoma?
Sturge-Weber syndrome is associated with elevated pressure in the small veins on the surface of the eye (episcleral veins), which makes it harder for fluid to drain out of the eye normally, raising internal eye pressure.
Can glaucoma appear later in life, not just at birth?
Yes. Roughly half of patients with Sturge-Weber-associated glaucoma are diagnosed in infancy, while the other half develop it later in childhood or even adulthood, so lifelong monitoring is important regardless of age at first evaluation.
Is surgery different for these patients?
Yes, it requires extra caution. The same elevated venous pressure that causes the glaucoma also increases the risk of certain surgical complications (fluid buildup behind the eye), so surgery is planned and performed with specific precautions.
See a glaucoma specialist. Dr. Robert Gunzenhauser is Harvard-educated and UCLA fellowship-trained in glaucoma, providing expert diagnosis and treatment for Sturge-Weber Syndrome Glaucoma at Inland Glaucoma Center in Upland, CA.