• Sturge–Weber syndrome (SWS), also called encephalotrigeminal angiomatosis, is a congenital dermato-oculo-neural syndrome.

– Cutaneous nevus flammeus in distribution of trigeminal nerve branches

– Ipsilateral glaucoma and diffuse choroidal hemangioma may occur.

– Ipsilateral meningeal hemangiomatosis


• Frequency is estimated at 1 in 50,000 live births

• No apparent gender or racial predilection



• Typically sporadic with no genetic inheritance pattern

• Rare familial clusters reported but inheritance pattern unclear


Embryonal developmental anomaly due to errors in mesodermal and ectodermal development


• Ophthalmic features:

– Diffuse choroidal hemangioma (50% of patients) ipsilateral to facial nevus flammeus characterized by a much more saturated reddish appearance compared with contralateral eye (“tomato-catsup fundus”)

– Retinal vascular tortuosity and serous retinal detachment may occur.

– Telangiectasia of conjunctival and episcleral vessels

– Glaucoma (up to 70% of patients) ipsilateral to facial nevus flammeus especially when eyelids are involved may result from elevated episcleral venous pressure, angle malformation, or both.

– Buphthalmos may result in cases of congenital glaucoma.

– Iris heterochromia

– Anisometropic amblyopia

• Cutaneous features:

– Facial nevus flammeus (“port-wine stain”): unilateral flat to thickened zone of dilated telangiectatic cutaneous capillaries appearing light pink to deep purple in coloration

– Involves region innervated by first branch (most common), first and second branches, or all three branches (least common) of trigeminal nerve

– Localized hypertrophy of ipsilateral nasal and buccal mucosa may occur.

• CNS features:

– Ipsilateral leptomeningeal hemangiomatosis

– May be associated with cortical atrophy, seizures (80% of patients), recurrent stroke-like episodes, and developmental delay

– Recurrent headaches (30–50% of patients), contralateral hemiparesis, hemiplegia, and hemianopsia may also occur.


Diagnostic Procedures/Other

• MRI (preferred modality) or CT scans of the brain may be used to detect leptomeningeal hemangiomatosis, which is present from birth.

– Granular calcification of parenchymal brain tissue adjacent to cortical atrophy can often be seen on CT scan.

• Ultrasonography: B-scan mode shows generalized choroidal thickening; A-scan demonstrates high internal reflectivity.

Pathological Findings

• Facial nevus flammeus: dilated telangiectatic cutaneous capillaries in the dermis lined by single layer of endothelial cells

• Diffuse choroidal hemangioma:

– Cavernous vascular channels lined by mature endothelial cells and supported by thin intervascular fibrous septa

– May contain small, capillary-type vessels

– Terminate indistinctly in periphery without sharp margins

– Fibrous transformation of retinal pigment epithelium and calcification may occur.

– Sensory retina overlying hemangioma often thickened and cystic


• Klippel–Trenaunay–Weber syndrome: characteristics of SWS plus port-wine stains of extremities and hemihypertrophy of soft and bony tissues

• Beckwith–Wiedemann syndrome: facial port-wine stain, macroglossia, omphalocele, visceral hyperplasia with severe hypoglycemia due to pancreatic islet cell hyperplasia


• Facial nevus flammeus: dermatologic vascular-specific pulsed-dye laser therapy

• Diffuse choroidal hemangioma: treatment usually considered when associated with macular edema or serous retinal detachment

– Photodynamic therapy

– Low-dose radiation therapy (external beam, proton beam, plaque radiotherapy, gamma knife radiotherapy, stereotactic radiotherapy)

• Glaucoma: topical drops

– First line: beta-blocker

– Second line: carbonic anhydrase inhibitor

– Third line: prostaglandin analog

– If medical therapy fails, see “Surgery/Other Procedures

• CNS manifestations:

– Seizures treated with anticonvulsants

– Aspirin may be beneficial in patients with recurrent stroke-like episodes

Use with caution in children as aspirin use is associated with Reye syndrome

Varicella and annual influenza immunizations recommended to lower risk of Reye syndrome


General Measures

• Address refractive error with glasses or contact lens.

• Treat amblyopia, which is typically anisometropic due to glaucoma-induced myopia.


• Subtotal hemispherectomy has been performed for intractable seizures or progressive mental deterioration.

• Trabeculectomy, aqueous tube shunt procedure, goniotomy, trabeculotomy, laser trabeculoplasty, or cyclodestructive procedures may be necessary to manage glaucoma if topical therapy is inadequate.

• Strabismus surgery as needed following completion of amblyopia therapy.



• Ophthalmologist

• Neurologist

• Neurosurgeon if intractable seizures

• Dermatologist

Patient Monitoring

See “Follow-up


• Sturge–Weber Foundation (

• Sturge–Weber Syndrome Community (


Life expectancy appears to be significantly reduced especially in patients with profound mental retardation and intractable seizures compared with those with more limited disease.


• Visual loss due to amblyopia, glaucoma, or serous retinal detachment

• Progressive mental deterioration

• Seizures


• Oakes WJ. The natural history of patients with the Sturge-Weber syndrome. Pediatr Neurosurg 1992;18:287–290.

• Patrianakos TD, Nagao K, Walton DS. Surgical management of glaucoma with the Sturge-Weber syndrome. Int Ophthalmol Clin 2008;48:63–78.

• Singh AD, Kaiser PK, Sears JE. Choroidal hemangioma. Ophthalmol Clin N Am 2005;18:151–161.

• Sullivan TJ, Clarke MP, Morin JD. The ocular manifestations of the Sturge-Weber syndrome. J Pediatr Ophthalmol Strabismus 1992;29:349–356.



228.09 Hemangioma of other sites

362.17 Other intraretinal microvascular abnormalities

759.6 Other congenital hamartoses, not elsewhere classified


• Suspect glaucoma when the port-wine stain involves the eyelids.

• Neuroimaging should be performed especially in patients with choroidal hemangiomas since leptomeningeal hemangiomas are almost always present in these cases.

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Nov 9, 2016 | Posted by in OPHTHALMOLOGY | Comments Off on Syndrome

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