Sturge-Weber Syndrome Treatment & Management

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.

Medical treatment of glaucoma in Sturge-Weber syndrome usually fails with time. Most ophthalmologists consider surgical therapy to be the mainstay of glaucoma therapy in patients with Sturge-Weber syndrome.^[5]

Although, as stated, medical treatment of Sturge-Weber syndrome glaucoma usually fails with time, it may be tried initially. This is because a significant reduction in intraocular pressure may be seen, at least temporarily, and may be helpful in clearing the cornea, thus facilitating surgical therapy. Moreover, it can be used to delay filtration surgery in younger patients. This is especially important, because the technical difficulties of operating on a smaller eye are excessive, and there is an increased tendency for scarring at the site of the scleral flap in the younger patient, reducing the chances for long-term surgical success.

Medical therapy can also be used as an adjunct 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.

A 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 for this form of therapy is still unknown. Furthermore, the precise indications and contraindications for such treatment currently are unknown.

As previously stated, most ophthalmologists consider surgical therapy to be the mainstay of glaucoma therapy in patients with Sturge-Weber syndrome,^[5] with antiglaucoma medications primarily useful as treatment adjuncts. However, the selection of surgical technique remains controversial.^[6] Goniotomy, trabeculotomy, trabeculectomy, combined trabeculotomy-trabeculectomy, argon laser trabeculoplasty, neodymium:yttrium-aluminum-garnet (Nd:YAG) laser goniotomy, and seton procedures have been used in patients with Sturge-Weber syndrome glaucoma. However, the long-term results are often disappointing with any of these procedures as they are associated with a high failure rate compared with the same procedure performed for primary infantile glaucoma.

Because Sturge-Weber–associated glaucoma is relatively rare, no controlled series of cases comparing one intervention to another have been published, nor are standard treatment guidelines 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.

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 successful only after being repeated several times and with the addition of adjunctive medical therapy. 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 used 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. Mitomycin-C and 5-FU 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 scarring 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 for 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, and 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 carefully cauterizing the dilated subconjunctival and episcleral vessels during strabismus surgery is important to prevent bleeding and scarring, so that the conjunctiva and anterior sclera are preserved 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, 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, to 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 with 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.^[7]

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 of 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.

All patients with Sturge-Weber syndrome (SWS) must have regular ophthalmologic examinations for life, even when no ocular abnormalities are detected initially, to avoid later loss of vision secondary to late-onset glaucoma.