Port-wine vascular malformations and glaucoma risk in Sturge-Weber syndrome

Ivey Eye Institute, London Health Sciences Centre, University of Western Ontario, London, Ontario, Canada.
Journal of AAPOS: the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus (Impact Factor: 1.14). 09/2009; 13(4):374-8. DOI: 10.1016/j.jaapos.2009.04.007
Source: PubMed

ABSTRACT Treatment of the capillary vascular malformation (port-wine stain) in Sturge-Weber syndrome with the use of a laser is helpful cosmetically. However, concerns have been raised that laser obliteration of port-wine stains may result in ocular hypertension. The aim of this study was to review clinical features and management of ocular complications of SWS and assess the effects of dermatological laser treatment on the incidence of glaucoma or ocular hypertension.
This retrospective cohort study was conducted in an institutional setting. All patients had involvement of the face. Patients who underwent skin laser to the port-wine vascular malformation were analyzed further. Ocular involvement, glaucoma, and skin laser treatment and the relationship to ocular hypertension/glaucoma were observed.
Forty-one Sturge-Weber syndrome patients with port-wine vascular malformation were analyzed. Glaucoma was observed in 24 patients (58.5%) at mean age of 2.9 years (range, 0.0-16.5). Of these, 18 (75.0%) were treated with medical therapy, and 10 (41.7%) required trabeculectomy, with 2 of these requiring Seton implant. Of the 41 patients, 28 (68.3%) underwent laser to face/forehead. Mean age of laser commencement was 5 years (range, 0.4-16.5). Thirteen did not undergo laser treatment. Fourteen of the 28 and 10 of the 13 developed ocular hypertension/glaucoma.
This retrospective review did not find evidence to suggest that laser treatment of port-wine vascular malformations causes glaucoma or that it can worsen a preexisting ocular hypertension or glaucoma. Statistical analysis was inconclusive.

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    ABSTRACT: Introduction: Sturge-Weber syndrome (SWS) presents in infancy with a facial port-wine birthmark associated with malformed leptomeningeal blood vessels and a choroid ‘angioma’ of the eye. It is a rare neurocutaneous disorder which occurs sporadically and is not inherited. Areas covered: Patients with SWS brain involvement have seizures, strokes and stroke-like episodes, and a range of the neurologic impairments. The mainstays of current treatment have included laser therapy for the birthmark, control of glaucoma through eye drops or surgery, and the use of anticonvulsants and low-dose aspirin. Surgical resection may be offered to those whose seizures are medically refractory. Endocrine, medical rehabilitation and cognitive co-morbidities are important to manage. SWS is not inherited, and the somatic mosaic mutation in the GNAQ gene, encoding the protein Gαq, has recently been identified. Impaired blood flow, coupled with impaired vascular innervation and function, contribute to neurologic deterioration over time in many patients. Expert opinion: Discovery of the causative somatic mosaic mutation suggests new insights into the pathophysiology of this vascular malformation disorder, and potential novel treatment strategies for future study. The mutation results in constitutive over-activation of the Ras-Raf-MEK-ERK pathway and inhibitors of this pathway may in the future prove useful in the treatment of SWS.
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    ABSTRACT: Sturge-Weber syndrome (SWS) is rare congenital disorder presenting facial port-wine stains (PWS) eye abnormalities and cerebrovascular malformations. The frequency of SWS is estimated at 1 in 50 000. Cerebrovascular abnormalities can be responsible for seizures, hemiparesis, mental retardation and ophthalmologic abnormalities cause intraocular pressure, glaucoma. Etiopathogenesis of SWS remains elusive. We present a case of a 7-year-old girl with SWS type II. A port-wine stain involves the upper right part of half face and has been associated with glaucoma of both eyes. In the Department of Dermatology in 2009-2012 we performed 23 procedures within 2 months. We have been using PDL laser at wavelength 595 nm and very good cosmetic results were achieved. Given positive treatment effects, the laser therapy of port-wine stains is a method of selection. Port-wine stains in the course of SWS requires a large number of laser treatment.
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