Sturge-Weber syndrome (SWS) is one of the phakomatoses (“birthmarks”), the congenital or heritable conditions characterized by hamartomas and/or neoplasms throughout the body. The other phakomatoses include Neurofibromatosis, Tuberous sclerosis, ataxia-telangiectasia, Von Hippel Lindau syndrome and Wyburn-Mason syndrome.
The hallmark of SWS is the generally unilateral hemangiomas of the ipsilateral face, eye, meninges and brain. Hemangiomas are vascular hamartomas, being a benign congenital tissue malformation made up of cells in their normal location but malformed or misarranged. SWS is associated with an increased risk of glaucoma; an elevated intraocular pressure (IOP) secondary to either structural changes in the angle or an increased episcleral venous pressure. Progressive neurological changes in SWS can lead to epilepsy, hemiparesis and mental retardation.
SWS does not show a definitive inheritance pattern. There appears to be no predilection for either race or gender. The condition is usually diagnosed at birth because of the facial appearance.
In cases where glaucoma occurs very early in life, tearing and photophobia are likely symptoms.
(a) Congenital facial hemangioma, also known as nevus flammeus or a port-wine stain. The hemangioma of the face typically corresponds to the territory of the first and second divisions of the trigeminal nerve. Facial hypertrophy of the area may occur (Figure 1). If the hemangioma involves the upper eyelid, glaucoma is more likely.
(b) Choroidal hemangioma is seen in about half of SWS cases (see also Choroidal Hemangioma). Diagnosis of the diffuse orange-red choroidal hemangioma may be assisted by a comparison of fundus background color with the fellow eye, ultrasound examination and fluorescein angiography.
(c) Glaucoma may develop in approximately one third of cases, and in about two thirds of these, onset is in the first two years of life. An early rise in IOP can lead to buphthalmos, with an enlarged eye and cloudy cornea (Figure 1). Infantile glaucoma may lead to strabismus, amblyopia and anisometropia.
(d) Other potential ocular signs include conjunctival and episcleral vascular abnormalities and telangiectasia (Figure 2), iris heterochromia and secondary exudative retinal detachment.
SWS is rare, its actual prevalence being unknown.
There may a reduced life expectancy in those patients who exhibit the full spectrum of the disease, in particular severe epilepsy and mental retardation. Glaucoma in SWS can prove refractory to treatment with a poor prognosis.
Other even less common conditions may show a facial hemangioma e.g. Klippel-Trenaunay-Weber syndrome. Choroidal hemangioma should be differentiated from choroidal melanoma and a serous detachment of the retinal pigment epithelium.
Congenital Glaucoma, Other phakomatoses listed above.
An attempt to manage glaucoma, if present, may be initially made with aqueous suppressants. Alternatively, these medications can be used as an adjunct therapy following surgical intervention.
Laser and incisional surgery
Cases where the angle structures are anomalous may benefit from goniotomy. Filtration surgery may also be considered. Laser photocoagulation, radiation therapy and photodynamic therapy have been used to treat retinal detachment and enhance the resolution of sub-retinal fluid.
Refractive correction or therapy
Treatment of any strabismus and amblyopia should be initiated.
Careful review is indicated for the development of glaucoma and retinal detachment. Neurological and dermatological manifestations may also require review.
Sturge-Weber syndrome in a young boy. The left eye is enlarged and cornea cloudy due to glaucoma. The facial haemangioma occupies the distribution of all three divisions of the trigeminal and some degree of tissue hypertrophy is present. Courtesy LV Prasad Eye Institute, Hyderabad, India.
Conjunctival and episcleral vascular abnormalities and telangiectasia.