AUTHOR AND EDITOR INFORMATION

Section 1 of 11  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• Multimedia
• References

INTRODUCTION

Section 2 of 11  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• Multimedia
• References

Background

Sturge-Weber syndrome (SWS) belongs to a group of disorders collectively known as the phakomatoses ("mother-spot" diseases). It consists of congenital hamartomatous malformations that may affect the eye, skin, and central nervous system at different times.

SWS is classified into complete trisymptomatic SWS when all 3 organ systems are involved, incomplete bisymptomatic SWS when the involvement is either oculocutaneous or neurocutaneous, and incomplete monosymptomatic SWS when there is only neural or cutaneous involvement. Patients with no cutaneous involvement appear to be spared from the ocular manifestations of the syndrome.

Clinically related features include focal or generalized motor seizures in as many as 85% of patients, some degree of mental retardation in approximately 60% of patients, and such neurologic deficits as hemiplegia and homonymous hemianopsia. Focal or generalized motor seizures usually begin in the first year of life, and profound seizure activity sometimes may be observed with resultant further neurologic and developmental deterioration. Therefore, it is desirable to diagnose and treat the disease early, before permanent damage to the brain occurs.

Progressive characteristic calcifications in the external layers of the cerebral cortex underlying the angiomatosis associated with ipsilateral cortical atrophy frequently develop and progress with age, occasionally extending anteriorly to the frontal and temporal lobes.

Pathophysiology

The hallmark of SWS is a facial cutaneous venous dilation, also referred to as nevus flammeus or port-wine stain, which is present in as many as 96% of patients and is visible at birth. The facial venous dilation appears as one or several dull red patches of irregular outline, along, but not limited to, the distribution of one or more divisions of the trigeminal nerve.

A leptomeningeal congenital venous angiomatosis, usually ipsilateral to the facial lesion and located most commonly in the meninges overlying the occipital and posterior parietal lobes, results in involvement of the central nervous system.

Frequency

United States

The incidence of SWS is unknown.

International

SWS occurs in all countries.

Mortality/Morbidity

The glaucoma associated with SWS is a significant cause of morbidity because of its early onset and resistance to conventional forms of treatment. Glaucoma has been estimated to occur in 30-70% of patients with SWS.

Race

SWS occurs in all races.

Sex

No significant sexual predilection exists.

Age

Generally, SWS is diagnosed easily at birth or in early infancy based on the external clinical signs alone. However, the development of morbidity from secondary changes and complications occurs throughout life.

Secondary glaucoma may present at any age, although early onset is the rule, with approximately 60% of glaucomas presenting at birth or early infancy and another 30% presenting during childhood. In addition, the median ages reported for onset of visual symptoms related to secondary retinal changes range from age 8-20 years.

CLINICAL

Section 3 of 11  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• Multimedia
• References

History

The 3 forms of SWS generally are diagnosed on clinical grounds by the association of the typical cutaneous, central nervous system, and ocular abnormalities.

When a typical facial vascular skin lesion is found in a newborn, it should alert the physician to perform a complete ophthalmologic and systemic assessment for the potentially serious associated disorders. Children with bisymptomatic or trisymptomatic SWS initially may seem neurologically normal and have no symptoms of glaucoma or other ocular manifestations; thus, in some instances, the diagnosis may not become clear for an extended period of time.

Physical

• Ocular signs, including a corneal diameter of more than 12 mm during the first year of life, corneal edema, tears in the Descemet membrane (Haab striae), unilateral or bilateral myopic shift, optic nerve cupping greater than 0.3, or any cup asymmetry associated with intraocular pressure above the high teens, may indicate the presence of infantile glaucoma.
• Increased conjunctival vascularity can be seen on slit lamp examination or as a pinkish discoloration seen by the naked eye. The abnormal plexus of episcleral vessels may be hidden by the overlying tissue of the Tenon capsule in infancy and only appreciated clinically in later childhood.
• Prominent tortuous conjunctival and episcleral vascular plexuses affect as many as 70% of patients with SWS and often correlate with increased episcleral venous pressure, probably resulting from arteriovenous shunts within the episcleral hemangiomas. The overlying retinal vessels may be affected, demonstrating dilation and tortuosity as well as peripheral arteriovenous communications.
• Iris heterochromia occurs in approximately 10% of patients with SWS. The more deeply pigmented iris usually is ipsilateral to the port-wine stain, signifying an increase in melanocytes number or activity.
• The diagnosis of diffuse choroidal hemangioma is based on tumor appearance on indirect binocular ophthalmoscopy.
• Ocular involvement may include eyelid hemangiomalike superficial changes (which on histology demonstrate only venous dilation), glaucoma, conjunctival and episcleral hemangiomas, diffuse choroidal hemangiomas, and heterochromia of the irides. Tortuous retinal vessels with occasional arteriovenous communications may be found.
• The facial cutaneous venous lesion usually is the first component of the syndrome to be observed, since it is visible at birth. It may be very pale at first. Although it does not increase in extent, it usually becomes darker with age. Although not a medically threatening condition in and of itself, the cosmetic deformity that the port-wine stain imposes may carry a psychological impact.
• Several possible mechanisms exist for decrease in visual function in patients with SWS.
• • As soon as SWS is first suspected or documented, a complete ophthalmologic evaluation is essential to rule out glaucoma, since the infant's eye is damaged quickly by increased intraocular pressure. The earlier glaucoma is documented and the more effectively it is controlled, the less likely secondary glaucomatous changes will occur, including buphthalmos, increased corneal diameter, tears in the Descemet membrane, corneal edema, and optic nerve damage resulting in myopia, anisometropia, amblyopia, strabismus, and visual field defects.
  • Amblyopia is an important cause of poor vision in patients with infantile glaucoma. Amblyopia usually is anisometropic from glaucoma-induced myopia or secondary to unilateral or bilateral pattern deprivation caused by cloudy corneas. Even when glaucomatous optic nerve damage is present, amblyopia may be superimposed upon the organic damage. Therefore, a trial of amblyopia therapy is indicated.
  • Diffuse choroidal hemangioma, characteristically seen in patients with SWS, is present in as many as 40-50% of patients. (A circumscribed, isolated form occurs in otherwise normal adults.) It is almost always unilateral and ipsilateral to the port-wine stain, but bilateral cases associated with bilateral nevus flammeus have been described.
  • • The choroidal hemangiomas are flat, commonly covering over one half of the fundus, involving the posterior pole, and extending into the equatorial zone.
    • Diffuse involvement of the entire uvea may be seen.
    • In some cases, the extent and character of the pathognomonic choroidal vascular lesion results in a striking reddish glow to which the descriptive term tomato-catsup fundus has been applied.
    • Some patients have a focal, often paramacular area where the angioma is more thickened and elevated.
    • The choroidal angiomatosis grows slowly and usually remains asymptomatic in childhood. During adolescence or adulthood, marked thickening of the choroid sometimes becomes evident with secondary changes to overlying ocular structures.
  • Changes in the overlying retinal pigment epithelium range from mild atrophy to focal proliferation with drusen formation to severe fibrous transformation and focal ossification. The retina over the hemangioma may be attached and well preserved, attached and degenerated, or detached.
  • Degenerative changes in the overlying retina include focal chorioretinal adhesions, loss of photoreceptors, severe cystoid degeneration of the outer layers, and marked gliosis. Widespread serous detachment, retinal leakage, and edema may occur. In its early stages, the choroidal thickening and elevation of the retina may produce an increasing ipsilateral hyperopia. With progression of secondary changes, visual loss and visual field defects may develop. Subretinal fibrosis in the macular area and cystoid macular edema are associated with the most severe visual loss.
  • The glaucoma is almost always unilateral and ipsilateral to the port-wine stain, although contralateral or bilateral glaucoma with unilateral cutaneous lesions have been reported. The occurrence of glaucoma has been noted, especially when the facial skin changes involve the upper and lower eyelids. Numerous mechanisms have been postulated to explain the pathogenesis of glaucoma in SWS. At present, the most accepted explanation for the elevated intraocular pressure is a combination of developmental angle anomalies, which have a dominant role in infantile onset glaucoma and elevated episcleral venous pressure, which is more important in later onset glaucoma.
  • Glaucomatous damage, as well as degenerative changes in the outer retinal layers and vascular abnormalities in the occipital lobe may cause visual field defects. Careful visual field perimetry is indicated.

Causes

The clinical manifestations of SWS have a common embryological basis. The primary defect is a developmental insult affecting precursors of tissues that originate in the promesencephalic and mesencephalic neural crest. Then, these affected precursors give rise to vascular and other tissue malformations in the meninges, eye, and dermis.

Although the exact nature of the insult is unknown, it has been postulated that a somatic mutation in these precursors may lead to overproduction of an angiogenic factor. Others have suggested that SWS may be due to a lethal gene surviving by mosaicism.

Incomplete SWS results from the same developmental defect, affecting only those cells whose clonal progeny are destined for the affected tissues. In contrast with the other phakomatoses in which clear-cut hereditary patterns are often evident, the influence of heredity in SWS has not been documented. To date, no gene defect has been associated with the syndrome. Several types of chromosomal abnormalities have been reported, but most patients with SWS have normal karyotypes. Most patients with SWS have a sporadic, nonfamilial disease.

DIFFERENTIALS

Section 4 of 11  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• Multimedia
• References

Other Problems to be Considered

The following disorders with similar clinical presentation to SWS must be included in the differential diagnosis:

• Klippel-Trenaunay-Weber syndrome consists of port-wine stains of the extremities and face, as well as hemihypertrophy of soft and bony tissues, in addition to all the characteristics of SWS. This syndrome is sporadic as is SWS. Also, in Klippel-Trenaunay-Weber syndrome, an association exists between hemihypertrophy and solid visceral tumors, most commonly affecting the kidney, adrenal gland, or liver.
• Beckwith-Wiedemann syndrome consists of a facial port-wine stain, macroglossia, omphalocele, and visceral hyperplasia. There is some associated risk of visceral neoplasia. Also, severe hypoglycemia resulting from pancreatic islet-cell hyperplasia is very common and may be life-threatening.

Neuroimaging findings similar to SWS may be found in several conditions and should be considered in the differential diagnosis, to include the following:

• Dyke-Davidoff-Masson syndrome is a condition in which one cerebral hemisphere is partially or completely atrophic as a result of an intrauterine or perinatal carotid artery infarction. Since the cerebral atrophy in SWS also occurs during infancy, changes similar to those of the Dyke-Davidoff-Masson syndrome, including cerebral hemiatrophy with ipsilateral calvarial diploic space enlargement, may be seen.
• Severe siderosis, prior to the injection of contrast material, has MRI findings similar to those in SWS with cerebral hemiatrophy. The typical contrast enhancement and the abnormal veins seen with contrast injection easily separate these two conditions.
• Calcification secondary to intrathecal methotrexate therapy and meningitis also must be included in the CT differential diagnosis of cortical pattern calcification. However, neither of these would demonstrate the unilateral specific geographic localization. When assessing the status of a uveal mass in a patient with SWS, the ophthalmologist must consider the possibility that the lesion may be something other than a choroidal hemangioma.
• The major clinical difficulty can be separating a hemangioma of the choroid from a choroidal melanoma. A few reports exist of patients with SWS who developed a choroidal tumor in the eye ipsilateral to the nevus flammeus that eventually proved to be a malignant melanoma rather than a hemangioma. Simultaneous occurrence of uveal melanoma and choroidal hemangioma in a patient with SWS also has been described. The reddish orange color of choroidal hemangiomas as viewed with a binocular indirect ophthalmoscope is an important diagnostic sign that differentiates them from white or creamy appearance of metastatic carcinomas and amelanotic melanomas. When uveal melanoma is suspected, fluorescein angiography and A- and B-scan ultrasonography are essential.
• Other orange fundus tumors that must be considered in the differential diagnosis of a diffuse choroidal hemangioma include serous or partly organized detachment of the retinal pigment epithelium, osteoma of the choroid, nodular scleritis, and exophytic retinal capillary hemangioma.

WORKUP

Section 5 of 11  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• Multimedia
• References

Imaging Studies

• Neuroimaging can confirm central nervous system involvement. MRI has been reported to be superior to CT scan in detecting the malformations affecting the central nervous system in SWS. However, the diagnosis often is obvious on plain skull x-ray film.
• • MRI allows recognition of abnormalities, including abnormal venous drainage and abnormal pial contrast enhancement, associated with the SWS angiomatous malformation that can confirm the diagnosis, even in very young children.
  • MRI also demonstrates cerebral volume reduction and ipsilateral choroid plexus enlargement. In addition, intravenous contrast can demonstrate the curvilinear posterior contrast enhancement of ocular choroidal angiomas.
  • On the other hand, CT scan is superior to MRI in detecting the characteristic double-lined gyriform pattern of calcifications paralleling cerebral convolutions referred to by radiologists as the railroad track sign. However, these calcifications usually are not detectable before age 1 year and may not be seen for several years.

Other Tests

• In the diagnosis of diffuse choroidal hemangioma, A- and B-scan ultrasonography may be useful diagnostic aids. B-scan ultrasonography characteristically shows a solid echogenic mass, while A-scan ultrasonography demonstrates high internal reflectivity.
• Fluorescein angiography has become a useful complementary examination.
• Angiography may reveal only an exaggerated background choroidal fluorescence early in the disease, widespread and irregular areas of hyperfluorescence secondary to diffuse leakage of dye from the surface of the tumor during the later stages of angiography, or even a diffuse multiloculated pattern of fluorescein accumulation in the outer retina characteristic of polycystic degeneration and edema in more advanced disease.
• Diffuse choroidal hemangioma may be overlooked easily on ophthalmoscopic examination because the color of the hemangioma resembles that of normal fundus, and the elevation may be minimal, especially in children.
• Comparison of the red reflex with the normal opposite eye can be helpful in confirming the diagnosis.

Procedures

• In young patients with suspected glaucoma, examination under anesthesia or deep sedation is necessary to confirm the diagnosis. Careful assessment of intraocular pressure, corneal diameter, cycloplegic refraction, axial length, gonioscopy, and optic nerve cupping, in each eye, is mandatory.

TREATMENT

Section 6 of 11  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• Multimedia
• References

Medical Care

• Local medical treatment
• • 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 SWS 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 since 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 also can 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 SWS.
• 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 SWS, with antiglaucoma medications useful primarily 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 SWS glaucoma, but the long-term results often are 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 exist. 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 SWS 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 often are unsuccessful in infants with SWS 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, since 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 SWS 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 usually is 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 SWS 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 SWS 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 generally is 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, it is not possible to attain complete reattachment of the retina. 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 SWS.
  • 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.

MEDICATION

Section 7 of 11  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• Multimedia
• References

Medical therapy with many agents, including beta-blockers, carbonic anhydrase inhibitors, and prostaglandin analogues, can be used to lower the intraocular pressure. 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 since the episcleral venous pressure is often elevated by dilated tortuous episcleral veins. Corticosteroids are used to reduce inflammation.

Drug Category: Beta-blockers

Lower IOP by decreasing the production of aqueous humor.

Drug Category: Carbonic anhydrase inhibitors

Lower IOP by decreasing aqueous production.

Drug Category: Prostaglandin analogues

Lower IOP by increasing aqueous outflow through the uveoscleral pathway.

Drug Category: Topical corticosteroids

Treatment of ocular inflammation.

Drug Category: Antineoplastic agents

Inhibit cell growth and proliferation.

FOLLOW-UP

Section 8 of 11  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• Multimedia
• References

Further Outpatient Care

• All patients 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.

Complications

• Surgical management of secondary open-angle glaucoma in patients with SWS, with filtering surgery and Seton procedures, bears an increased risk for a number of surgical complications, the most vision threatening and feared are expulsive choroidal hemorrhage and intraoperative massive choroidal effusion.
• Sudden change in the intraocular pressure gradient when the eye is opened may result in expulsive choroidal hemorrhage from the choroidal hemangioma. Treatment involves rapid closure of all scleral incisions with restoration of intraocular pressure. Transscleral drainage of suprachoroidal blood also may be indicated.
• The intraoperative formation of a massive choroidal effusion without hemorrhage also occurs frequently during filtering surgery in patients with SWS. Increased episcleral venous pressure in these patients is assumed to cause a similar increase in the venous pressure within the ciliary body and choroid.
• • During surgery, when the eye is opened and the intraocular pressure falls, rapid transudation of fluid from the intravascular to the extravascular space results. The extravasation of fluid can be massive enough to cause choroidal detachment instantaneously as well as later serous retinal detachment. Although the mechanism is probably similar to the more commonly seen benign postoperative choroidal detachment, the degree and the speed of fluid extravasation during surgery makes this entity more serious. This intraoperative event can mimic an expulsive suprachoroidal hemorrhage because of rapid fluid accumulation after the commencement of surgery; however, it differs because, if the suprachoroidal space is evacuated, clear, copious amounts of yellow fluid are found and the eye can be decompressed transiently.
  • It seems that once the intraoperative effusion is treated with immediate drainage, the postoperative prognosis becomes excellent despite the persistence of some degree of choroidal and serous retinal detachment.
• Postoperative smaller serous choroidal detachment may develop.
• Serous retinal detachment often occurs in association with choroidal effusion and hypotony. It is possible that a choroidal effusion temporarily interferes with the metabolic transport systems of the retinal pigment epithelium. These serous retinal detachments usually resolve spontaneously as the intraocular pressure normalizes.
• Various preoperative and perioperative prophylactic measures to counteract or prevent these complications have been suggested, including use of hyperosmotics, maximum antiglaucoma therapy preoperatively, prophylactic posterior sclerotomy, prophylactic radiotherapy or laser photocoagulation of the choroidal hemangioma, and electrocautery of the anterior episcleral vascular anomaly.
• Eibschitz-Tsimhoni and colleagues recently demonstrated minimal risk of subchoroidal hemorrhage or effusion in a large case series of patients with SWS undergoing filtration surgery using modern surgical techniques. The authors questioned the need for prophylactic posterior sclerotomy in patients with SWS.
• Suggested steps to minimize the intraoperative and postoperative hypotony are preplacement of scleral flap sutures, injection of a viscoelastic prior to excision of the trabecular meshwork, and tight suturing of the scleral flap with releasable sutures that could be lysed after surgery with argon laser, removed at the slit lamp, or at the time of examination under anesthesia.
• Any recent intraocular surgery predisposes the eye to the risk of bacterial endophthalmitis. Patients with filtering blebs, especially the thin avascular blebs seen with the use of mitomycin-C, are at increased risk to develop bacterial endophthalmitis months and even years after surgery. Because this risk is increased further by contact lens wear, the use of any type of contact lens in these patients is discouraged. Other potential sources of infection include normal conjunctival flora, episodes of bacterial conjunctivitis, and contaminated medicine dropper bottle tips.

Patient Education

• Support group
• • Sturge-Weber Foundation, PO Box 418, Mount Freedom, NJ, 07970-0418
  • Web site: The Sturge-Weber Foundation

MISCELLANEOUS

Section 9 of 11  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• Multimedia
• References

Medical/Legal Pitfalls

• Failure to perform a complete ophthalmologic evaluation to rule out glaucoma

MULTIMEDIA

Section 10 of 11  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• Multimedia
• References

Media file 1:  A child with Sturge-Weber syndrome that primarily affects the distribution of cranial nerve V2-3 with milder involvement of cranial nerve V1. Secondary glaucoma is evident. Ocular melanocytosis involving the sclera of both eyes is an associated finding. Image courtesy of Dr. Lamia Salah Elewa.
	View Full Size Image
Media type:  Photo

Media file 2:  Same patient as in Image 1. Close-up view of the left eye, showing the Ahmed valve implanted in the inferotemporal quadrant after multiple failed filtration procedures induced severe superior conjunctival scarring. Intraocular pressure was controlled. Image courtesy of Dr. Lamia Salah Elewa.
	View Full Size Image
Media type:  Photo

Media file 3:  Same patient as in Image 1. T1-weighted axial MRI images demonstrate left cerebral hemiatrophy associated with leptomengeal angiomatosis. Image courtesy of Dr. Lamia Salah Elewa.
	View Full Size Image
Media type:  MRI

Media file 4:  Same patient as in Image 1. Ocular ultrasound image of the posterior segment demonstrating the diffuse choroidal thickening seen in the diffuse choroidal hemangioma with "tomato-catsup fundus." Image courtesy of Dr. Lamia Salah Elewa.
	View Full Size Image
Media type:  Image

REFERENCES

Section 11 of 11

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• Multimedia
• References

• 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].
• 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].
• Cheng KP. Ophthalmological manifestations of Sturge-Weber syndrome. In: Brodensteiner JB, Roach ES, eds. Sturge-Weber Syndrome. 1999.
• Cibis GW, Tripathi RC, Tripathi BJ. Glaucoma in Sturge-Weber syndrome. Ophthalmology. Sep 1984;91(9):1061-71. [Medline].
• 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].
• 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].
• 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].
• Ritch R. Serous retinal detachment after glaucoma filtration surgery in Sturge-Weber Syndrome. J Glaucoma. 1992;1(1):58-62.
• Schirmer R. Ein fall von telangiektasie. Albrecht von Graefes Arch Ophthalmol. 1860;7:119-121.
• 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.
• 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].
• Susac JO, Smith JL, Scelfo RJ. The "tomatoe-catsup" fundus in Sturge-Weber syndrome. Arch Ophthalmol. Jul 1974;92(1):69-70. [Medline].
• 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.
• Weiss DI. Dual origin of glaucoma in encephalotrigeminal haemangiomatosis. Trans Ophthalmol Soc U K. 1973;93(0):477-93. [Medline].
• 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].

Article Last Updated: Feb 15, 2007