Sturge-Weber syndrome (SWS; encephalofacial angiomatosis) consists of a facial cutaneous vascular malformation (port-wine stain) with ipsilateral leptomeningeal vascular malformation. Extraocular features are summarized in Table 28-6, with examples shown in Figures 28-17 and 28-18.
Any portion of the ocular circulation may be anomalous in SWS. When the skin lesion involves the eyelids, increased conjunctival vascularity commonly produces a pinkish discoloration. An abnormal plexus of episcleral vessels is often present.
The retina sometimes shows tortuous vessels and arteriovenous communications. Choroidal hemangioma is the most significant retinal anomaly associated with SWS. The tumor is composed of well-formed choroidal vessels, which give the fundus a uniform deep-red color that has been compared to that of tomato ketchup (Fig 28-19). Sometimes only the posterior pole is involved; in other cases, the entire fundus is affected. Choroidal hemangiomas are usually asymptomatic in childhood. During adolescence or adulthood, the choroid sometimes becomes markedly thickened. Degeneration or detachment of the overlying retina may follow. No treatment has been proven to prevent or reverse such deterioration, but scattered application of laser photocoagulation may help.
Glaucoma is the most common and most serious ocular complication. It has been reported to occur in up to approximately 70% of patients with SWS. Causes of elevated intraocular pressure (IOP) include elevated episcleral venous pressure, hyperemia of the ciliary body with hypersecretion of aqueous, and developmental anomaly of the anterior chamber angle. Involvement of the skin of the upper eyelid, choroidal hemangioma, iris heterochromia, and episcleral hemangioma increase the likelihood of glaucoma. Onset of glaucoma can be at birth or later in childhood.
Table 28-6 Extraocular Features in Sturge-Weber Syndrome
Figure 28-17 Axial gadolinium-enhanced T1-weighted MR image shows vascular malformation with underlying cortical atrophy (arrow) in the left occipital lobe of a 4-month-old girl with Sturge-Weber syndrome.
Figure 28-18 Facial port-wine stain involving the left eyelids, associated with ipsilateral buphthalmos, in an infant girl with Sturge-Weber syndrome and glaucoma.
Figure 28-19 Fundus appearance in an adolescent boy with Sturge-Weber syndrome. Note the glaucomatous disc cupping and deeper red color of surrounding choroid, right eye (A), compared with the healthy fellow eye (B).
SWS glaucoma is difficult to treat. Initial therapy with topical eyedrops can be effective, especially in cases of later onset. Surgery is indicated in early-onset cases and when medical treatment is inadequate. Adequate long-term control of IOP can frequently be achieved, but multiple operations are typically necessary. A particular risk of glaucoma surgery in SWS is intraoperative or postoperative exudation or hemorrhage from anomalous choroidal vessels; this complication is caused by rapid ocular decompression. The surgeon must exercise special care with implanted glaucoma drainage devices to prevent excessive early postoperative hypotony. Postsurgical accumulation of choroidal or subretinal fluid may be dramatic, but spontaneous resorption usually occurs within 1–2 weeks.
Angle surgery (goniotomy and trabeculotomy) has been used successfully in some patients with SWS. Treatment of affected skin with a pulsed dye laser has been shown to reduce vascularity, considerably improving appearance without causing significant damage to dermal tissue.
Khaier A, Nischal KK, Espinosa M, Manoj B. Periocular port wine stain: the Great Ormond Street Hospital experience. Ophthalmology. 2011;118(11):2274–2278.e1.
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.