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.

Adult

1 gtt in affected eye qd/bid

Pediatric

Administer as in adults

May cause bradycardia and asystole when used in combination with systemic beta-blockers

Documented hypersensitivity; congestive heart failure; asthma; cardiac conduction defects; breastfeeding; sinus bradycardia greater than first-degree AV block

Pregnancy

C - Safety for use during pregnancy has not been established.

Precautions

Product may have sulfites, which may cause allergic-type reactions in certain susceptible persons

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.

Adult

1 gtt to affected eye bid/tid

Pediatric

Not established

Possible toxicity associated with high-dose salicylate therapy

Pregnancy

C - Safety for use during pregnancy has not been established.

Precautions

Caution in patients with renal and hepatic impairment

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.

Adult

1 gtt in affected eye hs; higher frequency administrations may decrease effectiveness

Pediatric

Not established

Coadministration with eye drops containing the preservative thimerosal may reduce effects (administer at intervals of 5 min between applications)

Pregnancy

B - Fetal risk not confirmed in studies in humans but has been shown in some studies in animals

Precautions

Do not administer while wearing contact lenses; may increase brown pigment in iris and change eye color gradually (unknown effect); caution in aphakia and inflammatory ocular conditions

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.

Adult

1 gtt 1-6 times/d after glaucoma filtering surgery

Pediatric

Administer as in adults

Documented hypersensitivity; contraindicated in most viral diseases of the cornea and conjunctiva

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

Development of secondary ocular infection has occurred with long-term use


Dexamethasone (Decadron, AK-Dex)

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

Adult

Inject 0.5 mL of 4 mg/mL solution (2 mg total) sub-Tenon at end of case or prn severe inflammation

Pediatric

Administer as in adults

Effects decrease with coadministration of barbiturates, phenytoin and rifampin; dexamethasone decreases effect of salicylates and vaccines used for immunization

Documented hypersensitivity; active bacterial or fungal infection

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

Increases risk of multiple complications, including severe infections; monitor adrenal insufficiency when tapering drug; abrupt discontinuation of glucocorticoids may cause adrenal crisis; hyperglycemia, edema, osteonecrosis, myopathy, peptic ulcer disease, hypokalemia, osteoporosis, euphoria, psychosis, myasthenia gravis, growth suppression, and infections are possible complications of glucocorticoid use


Triamcinolone (Kenalog-40, Amcort)

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

Adult

Inject 0.5 mL of 40 mg/mL (20 mg total) sub-Tenon in adjacent quadrant for severe inflammation; may repeat in 2-4 wk

Pediatric

Administer as in adults

Coadministration with barbiturates, phenytoin, and rifampin decreases effects of triamcinolone

Documented hypersensitivity; fungal, viral, and bacterial skin infections

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

Multiple complications (eg, severe infections, hyperglycemia, edema, osteonecrosis, myopathy, peptic ulcer disease, hypokalemia, osteoporosis, euphoria, psychosis, myasthenia gravis, growth suppression) may occur; abrupt discontinuation of glucocorticoids may cause adrenal crisis

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.

Adult

Applied at time of surgery to scleral bed, or inject 0.1 cc injected subconjunctivally in adjacent quadrant at weekly intervals after trabeculectomy surgery

Pediatric

Not established

Documented hypersensitivity; potentially serious infections

Pregnancy

X - Contraindicated; benefit does not outweigh risk

Precautions

Incidence of inflammatory reactions may occur with occlusive dressings; porous gauze dressing may be applied for cosmetic reasons without increase in reaction; patients should expect inflammatory reaction with crusting


Mitomycin (Mutamycin)

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

Adult

Apply 0.4 mg/cc topically to bare sclera at trabeculectomy site for >1-5 min

Pediatric

Administer as in adults

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

May contribute to development of secondary infections

More on Sturge-Weber Syndrome

Overview: Sturge-Weber Syndrome
Differential Diagnoses & Workup: Sturge-Weber Syndrome
Treatment & Medication: Sturge-Weber Syndrome
Follow-up: Sturge-Weber Syndrome
Multimedia: Sturge-Weber Syndrome
References

References

  1. [Guideline] American Association of Neuroscience Nurses. Care of the patient with seizures. 2nd ed. Glenview (IL): American Association of Neuroscience Nurses; 2007.

  2. [Best Evidence] [Guideline] Patrianakos TD, Nagao K, Walton DS. Surgical management of glaucoma with the sturge weber syndrome. Int Ophthalmol Clin. 2008;48(2):63-78. [Medline].

  3. Sharan S, Swamy B, Taranath DA, et al. Port-wine vascular malformations and glaucoma risk in Sturge-Weber syndrome. J AAPOS. Aug 2009;13(4):374-8. [Medline].

  4. Eibschitz-Tsimhoni M, Lichter PR, Del Monte MA, et al. Assessing the need for posterior sclerotomy at the time of filtering surgery in patients with Sturge-Weber syndrome. Ophthalmology. Jul 2003;110(7):1361-3. [Medline].

  5. Govori V, Gjikolli B, Ajvazi H, Morina N. Management of patient with Sturge-Weber syndrome: a case report. Cases J. Dec 23 2009;2:9394. [Medline].

  6. Audren F, Abitbol O, Dureau P. Non-penetrating deep sclerectomy for glaucoma associated with Sturge-Weber syndrome. Acta Ophthalmol Scand. Oct 2006;84(5):656-60. [Medline].

  7. Board RJ, Shields MB. Combined trabeculotomy-trabeculectomy for the management of glaucoma associated with Sturge-Weber syndrome. Ophthalmic Surg. Nov 1981;12(11):813-7. [Medline].

  8. Cheng KP. Ophthalmological manifestations of Sturge-Weber syndrome. In: Brodensteiner JB, Roach ES, eds. Sturge-Weber Syndrome. 1999.

  9. Cibis GW, Tripathi RC, Tripathi BJ. Glaucoma in Sturge-Weber syndrome. Ophthalmology. Sep 1984;91(9):1061-71. [Medline].

  10. Iwach AG, Hoskins HD, Hetherington J, Shaffer RN. Analysis of surgical and medical management of glaucoma in Sturge-Weber syndrome. Ophthalmology. Jul 1990;97(7):904-9. [Medline].

  11. MacDonald IM, Bech-Hansen NT, Britton WA, et al. The phakomatoses: recent advances in genetics. Can J Ophthalmol. Feb 1997;32(1):4-11. [Medline].

  12. Parsa, CF. Sturge-Weber Syndrome:A Unifified Pathophysiologic Mechanism. Curr Treat Options Neurol. 2008;10:47-54. [Medline].

  13. Ritch R. Serous retinal detachment after glaucoma filtration surgery in Sturge-Weber Syndrome. J Glaucoma. 1992;1(1):58-62.

  14. Schirmer R. Ein fall von telangiektasie. Albrecht von Graefes Arch Ophthalmol. 1860;7:119-121.

  15. Sturge, WA. A case of partial epilepsy, apparently due to a lesion of one of the vaso-motor centers of the brain. Trans Clin Soc Lond. 1897;12:162-167.

  16. Sullivan TJ, Clarke MP, Morin JD. The ocular manifestations of the Sturge-Weber syndrome. J Pediatr Ophthalmol Strabismus. Nov-Dec 1992;29(6):349-56. [Medline].

  17. Susac JO, Smith JL, Scelfo RJ. The "tomatoe-catsup" fundus in Sturge-Weber syndrome. Arch Ophthalmol. Jul 1974;92(1):69-70. [Medline].

  18. Weber FP. Right-sided hemi-hypotrophy resulting from right-sided congenital spastic hemiplegia with a morbid condition of the left side of the brain, revealed by radiograms. Neurol Psychopathol. 1922;3:134-139.

  19. Weiss DI. Dual origin of glaucoma in encephalotrigeminal haemangiomatosis. Trans Ophthalmol Soc U K. 1973;93(0):477-93. [Medline].

  20. Witschel H, Font RL. Hemangioma of the choroid. A clinicopathologic study of 71 cases and a review of the literature. Surv Ophthalmol. May-Jun 1976;20(6):415-31. [Medline].

Further Reading

Keywords

Sturge-Weber syndrome, SWS, encephalotrigeminal hemangiomatosis, port wine stain, port-wine stain, nevus flammeus, phakomatoses, iris heterochromia, choroidal hemangioma, glaucoma, amblyopia, treatment, diagnosis, symptoms

Contributor Information and Disclosures

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
Monte A Del Monte, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Ophthalmology, American Association for Pediatric Ophthalmology and Strabismus, American Medical Association, Association for Research in Vision and Ophthalmology, International Society for Genetic Eye Diseases and Retinoblastoma, Pan-American Association of Ophthalmology, and Phi Beta Kappa
Disclosure: Nothing to disclose.

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
Maya Eibschitz-Tsimhoni, MD is a member of the following medical societies: American Academy of Ophthalmology and Association for Research in Vision and Ophthalmology
Disclosure: Nothing to disclose.

Medical Editor

Gerhard W Cibis, MD, Clinical Professor, Director of Pediatric Ophthalmology Service, Department of Ophthalmology, University of Kansas, Kansas City
Gerhard W Cibis, MD is a member of the following medical societies: American Academy of Ophthalmology, American Association for Pediatric Ophthalmology and Strabismus, and American Ophthalmological Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

Managing Editor

J James Rowsey, MD, Former Director of Corneal Services, St Luke's Cataract and Laser Institute, Florida
J James Rowsey, MD is a member of the following medical societies: American Academy of Ophthalmology, American Association for the Advancement of Science, American Medical Association, Association for Research in Vision and Ophthalmology, Florida Medical Association, Pan-American Association of Ophthalmology, Sigma Xi, and Southern Medical Association
Disclosure: Nothing to disclose.

CME Editor

Lance L Brown, OD, MD, Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri
Disclosure: Nothing to disclose.

Chief Editor

Hampton Roy Sr, MD, Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences
Hampton Roy Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, and Pan-American Association of Ophthalmology
Disclosure: Nothing to disclose.

 
 
HONcode

We subscribe to the
HONcode principles of the
Health On the Net Foundation

All material on this website is protected by copyright, Copyright© 1994- by Medscape.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.