eMedicine Specialties > Ophthalmology > Phakomatoses

Sturge-Weber Syndrome: Treatment & Medication

Author: Monte A Del Monte, MD, Skillman Professor of Pediatric Ophthalmology, Professor of Ophthalmology, Pediatrics and Communicable Diseases, Director of Pediatric Ophthalmology and Strabismus, W K Kellogg Eye Center, University of Michigan Medical School
Coauthor(s): Maya Eibschitz-Tsimhoni, MD, Assistant Professor of Ophthalmology, Pediatric Ophthalmology and Adult Strabismus, Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan Medical Center
Contributor Information and Disclosures

Updated: Feb 19, 2010

Treatment

Medical Care

• Local medical treatment of Sturge-Weber syndrome (SWS)
  • For small degrees of anisometropia, full optical correction of both eyes or at least full correction of the refractive difference between the eyes is desirable.
  • In higher degrees of anisometropia or if the child develops strabismus, treatment to prevent amblyopia and to treat strabismus should be initiated.
  • Anisometropic amblyopia may require occlusion therapy along with correction of the refractive error.
  • In some patients, a contact lens may be required to treat fusion difficulty due to aniseikonia.
• Systemic medical treatment
  • Medical treatment of Sturge-Weber syndrome glaucoma usually fails with time; however, it may be tried initially since a significant reduction in intraocular pressure, at least temporarily, may be seen and may be helpful to clear the cornea and, thus, to facilitate surgical therapy in patients awaiting surgery and in younger patients to delay filtration surgery. This is especially important because the technical difficulties operating on a smaller eye are excessive as well as the increased tendency for scarring at the site of the scleral flap in the younger patient reduces long-term success.
  • Medical therapy can also be used as an adjunctive to surgery. Topical antiglaucoma therapy for extended periods of time is sometimes helpful postoperatively to further reduce borderline intraocular pressure elevations without the need for reoperation. Initial medical therapy with a topical beta-blocker, followed sequentially with the addition of a carbonic anhydrase inhibitor (systemic in infants and topical in older children) and topical prostaglandin (latanoprost [Xalatan]) is a reasonable protocol in patients with Sturge-Weber syndrome.
  • In recent years, few patients with diffuse choroidal hemangiomas associated with a bullous nonrhegmatogenous retinal detachment have been treated with radiation therapy, such as brachytherapy or external beam irradiation. Preliminary reports of such therapy suggest that radiation therapy may be a reasonable alternative to photocoagulation, the currently preferred therapy, in selected patients. However, the ultimate risk-to-benefit ratio of this form of therapy is still unknown. Furthermore, the precise indications and contraindications for such treatment currently are unknown.

Surgical Care

Most ophthalmologists consider surgical therapy as the mainstay of glaucoma therapy in patients with Sturge-Weber syndrome,² with antiglaucoma medications primarily useful as an adjunct. However, the selection of surgical technique remains controversial. Goniotomy, trabeculotomy, trabeculectomy, combined trabeculotomy-trabeculectomy, argon laser trabeculoplasty, Nd:YAG laser goniotomy, and seton procedures all have been used in patients with Sturge-Weber syndrome glaucoma, but the long-term results are often disappointing with any of these procedures, and no procedure exhibits the success as when initially performed for primary infantile glaucoma.

Because of the rarity of the condition, the published series of treated cases have been uncontrolled, and no standard guidelines are available. The objective of therapy is rapid and permanent lowering of the intraocular pressure into the normal range (generally <20 mm Hg) or to a level slightly higher but without progression of other signs, such as corneal enlargement, increased myopia, or increased optic nerve cupping.

Postoperative care frequently requires repeated examination under anesthesia in infants and young children to assess surgical success. If continued borderline intraocular pressure elevation is found, then a trial of adjunctive medical therapy with close follow-up care may be continued safely as long as no evidence for progression of glaucoma damage is observed. However, if intraocular pressure remains clearly elevated or evidence for progressive glaucomatous damage is detected, then repeat glaucoma surgery should be performed.

The anesthesiologist should be aware that the patient has Sturge-Weber syndrome because the presence of a spinal cord or brain hemangioma may increase the risk of intracerebral bleeding or disseminated intravascular coagulation with anesthesia. In addition, an anesthesia protocol should be planned to prevent the development of hypertension, which could result in hemorrhage.

• Goniotomy or trabeculotomy is believed by some to be the treatment of choice in early onset glaucoma in infancy when the probable mechanism for pressure elevation is an abnormal outflow angle. These procedures are often unsuccessful in infants with Sturge-Weber syndrome or are only successful after being repeated several times and with the addition of adjunct medical therapy. Even shorter duration of pressure control is the rule in patients older than 4 years. Nevertheless, some authors prefer to perform these procedures initially because they are sometimes successful and goniotomy also is thought to be less likely to cause complications (especially expulsive choroidal hemorrhage or choroidal effusion) that are associated with a precipitous drop in intraocular pressure.
• With glaucoma onset in the older age group when the outflow angle appears clinically normal, glaucoma filtering surgery, either full thickness or partial thickness (trabeculectomy), is more likely to be successful because it bypasses any component of the glaucoma possibly caused by elevated episcleral venous pressure. Combined trabeculotomy-trabeculectomy may be a reasonable compromise in the older patient with Sturge-Weber syndrome in view of the possible combination of angle abnormality and raised episcleral pressure in causing the glaucoma.
  • Adjunctive antimetabolites in conjunction with a filtering surgery may create a more satisfactory degree of intraocular pressure control in this patient population, by slowing wound healing and scar formation. The most commonly used clinical agents are 5-fluorouracil (5-FU) and mitomycin-C. 5-FU usually is given as a series of subconjunctival injections postoperatively. Mitomycin-C is usually applied intraoperatively, using a sponge saturated with mitomycin solution.
  • Postoperative subconjunctival injections usually are impossible in very young patients; thus, intraoperative application of mitomycin-C most frequently is required in these patients. Both 5-FU and mitomycin-C are associated with thinner more cystic blebs and may carry a higher rate of complications, such as wound leaks, chronic hypotony, and possibly late endophthalmitis.
  • Corticosteroids should be used after filtration surgery to diminish postoperative inflammation and scaring of the bleb. A sub-Tenon injection of a short-acting corticosteroid (eg, dexamethasone, triamcinolone) at the completion of surgery and the use of topical corticosteroid drops or ointment after surgery are recommended.
• Cyclocryotherapy is difficult to control and has a high complication rate. Therefore, it should be used only when all other procedures have failed or are not feasible, to save useful vision or to prevent or relieve severe pain. New types of cyclodestructive procedures, such as Nd:YAG transscleral laser and therapeutic ultrasonic cyclodestructive procedures, have had only limited trial in pediatric and Sturge-Weber syndrome glaucoma, and their potential for long-term success as well as complications are not fully understood in the young patient.
• Seton devices also are being used when routine filtering surgery has failed. Encouraging initial results have been reported using various posterior tube shunt implant devices, but long-term follow-up results are not yet available.
• Nd:YAG laser goniotomy and argon laser trabeculoplasty have been used to a limited extent in pediatric glaucoma, but favorable results in some patients with Sturge-Weber syndrome have been reported.
• Any significant strabismus that is still present after the completion of amblyopia therapy, refractive lens correction, and orthoptics is treated best with eye muscle surgery. Avoiding or careful cauterization of the dilated subconjunctival and episcleral vessels during strabismus surgery is important to prevent bleeding and scarring to preserve the conjunctiva and anterior sclera for future glaucoma procedures.
• Unfortunately, no surgical or medical treatment has been shown to be very effective in preventing or reversing the visual deterioration associated with the secondary changes of ocular structures overlying the diffuse choroidal hemangioma.
  • Management of affected eyes emphasizes the reduction of subretinal fluid as the main therapeutic aim in an attempt to stabilize or reverse, if possible, further visual impairment caused by nonrhegmatogenous retinal detachment. However, no reliable treatment of the retinal detachment that develops in these patients has been found, and, even in the exceptional case in which the retina can be reattached, fibrous metaplasia of the retinal pigment epithelium and cystoid degeneration of the retina overlying the choroidal hemangioma prevent good visual result. Many such eyes eventually become blind and painful and must be enucleated.
  • Attempts at repairing the nonrhegmatogenous retinal detachment variously involve cryotherapy and diathermy, xenon arc or argon laser photocoagulation, subretinal fluid drainage, and radiation therapy. A critical factor in a successful outcome appears to be the early initiation of treatment.
  • Laser photocoagulation is generally considered to be the preferred therapeutic intervention. Placement of light photocoagulation scars over the entire tumor is completed in an attempt to strengthen the adhesion between the retina and the underlying pigment epithelium and, thus, prevent the spread of the retinal detachment. This form of treatment has afforded limited success. However, retinal detachment often recurs even after photocoagulation therapy, and, in some patients, complete reattachment of the retina is not possible. Furthermore, treatment success with large hemangiomas, as well as of diffuse, infiltrating tumors of the macula, is limited.
  • External drainage of subretinal fluid with or without scleral buckling in conjunction with xenon photocoagulation has been used to treat diffuse choroidal hemangiomas associated with large exudative retinal detachments in Sturge-Weber syndrome.
  • Pars plana vitrectomy, endolaser, and internal drainage of subretinal fluid can be performed. Cryotherapy and penetrating diathermy are of limited use because of the posterior location of the tumor.
• Treatment of the cutaneous port-wine stain with dye laser photocoagulation has been helpful in reducing the cosmetic blemish from the cutaneous vascular dilatation.³

Medication

Medical therapy in patients with Sturge-Weber syndrome involves many agents, including beta-blockers, carbonic anhydrase inhibitors, and prostaglandin analogues, that can be used to lower the intraocular pressure (IOP). Medical therapy is used as an initial treatment, especially in late-onset glaucoma, with surgical therapy initially used in early-onset cases. Aqueous suppressants are typically used for initial medical therapy. Prostaglandin analogues may not be as effective in these patients because the episcleral venous pressure is often elevated by dilated tortuous episcleral veins. Corticosteroids are used to reduce inflammation.

Beta-blockers

These agents lower IOP by decreasing the production of aqueous humor.

Levobunolol 0.25% or 0.5% (Betagan)

Nonselective beta-adrenergic blocking agent that lowers IOP by reducing aqueous humor production.

Carbonic anhydrase inhibitors

These agents lower IOP by decreasing aqueous production.

Dorzolamide 2% (Trusopt); Brinzolamide 1% (Azopt)

Both act by inhibition of carbonic anhydrase in the ciliary processes, which decreases aqueous humor formation.

Prostaglandin analogues

These agents lower IOP by increasing aqueous outflow through the uveoscleral pathway.

Latanoprost 0.005% (Xalatan)

May decrease IOP by increasing outflow of aqueous humor.

Topical corticosteroids

These agents are used to treat ocular inflammation.

Prednisolone acetate 1% (Pred Forte)

Inhibits the edema, fibrin deposition, capillary dilation, and phagocytic migration of the acute inflammatory response as well as capillary proliferation. Causes the induction of phospholipase A2 inhibitory proteins.

Dexamethasone (Decadron, AK-Dex)

Decreases inflammation by suppressing migration of polymorphonuclear leukocytes and reducing capillary permeability.

Triamcinolone (Kenalog-40, Amcort)

For inflammatory reactions responsive to steroids. Decreases inflammation by suppressing migration of polymorphonuclear leukocytes and reversing capillary permeability.

Antineoplastic agents

These agents inhibit cell growth and proliferation.

5-Fluorouracil (Efudex, Fluoroplex)

Interferes with DNA synthesis by blocking methylation of deoxyuridylic acid, inhibiting thymidylate synthetase and subsequently cell proliferation.

Mitomycin (Mutamycin)

Interferes with DNA synthesis by alkylation and cross-linking the strands of DNA.

• Search for CME/CE on This Topic »

• Sturge-Weber Syndrome (Neurology)
• Sturge-Weber Syndrome (Radiology)
• Pheochromocytoma (Endocrinology)
• Dermatologic Manifestations of Neurologic Disease (Dermatology)

• A 7-Week-Old Infant With a Large Facial Hemangioma
• How Do You Determine Down Syndrome When Considering Adoption From Another Country?