Incidence of Sturge-Weber syndrome and associated ocular involvement in Olmsted County, Minnesota, United States

Abstract

Background: Sturge-Weber syndrome (SWS) is a rare sporadic syndrome characterized by nevus flammeus (port-wine stain, PWS) in the trigeminal nerve distribution, diffuse choroidal hemangioma, and brain leptomeningeal hemangioma. We are unaware of previous reports of SWS incidence in the United States. This study investigated SWS incidence and associated ocular involvement in Olmsted County, Minnesota.Materials and methods: The Rochester Epidemiology Project database was used to identify SWS cases from January 1, 2000-December 31, 2017. Incidence of SWS was calculated using the Olmsted County census population. A literature review of studies investigating SWS-associated ocular involvement was also performed.Results: There were 13 patients with SWS in Olmsted County classified as type 1 (31%) or type 2 (69%). Age and sex-adjusted incidence of SWS was 0.19/100,000/year. Race was predominantly Caucasian (85%), with sex female (69%) or male (31%). All patients had PWS, mostly with unilateral distribution in the V1 and/or V2 region (85%). Two cases (15%) had associated Klippel-Trenaunay syndrome. The most common ocular features included: dilated episcleral vessels (46%), glaucoma (46%), retinal detachment (23%), DCH (7.7%), strabismus (31%), and refractive error (38%). PWS in the V1 distribution was associated with all cases of glaucoma, DCH, and neurological involvement. Severe visual impairment (>0.6 LogMAR, Snellen equivalent ≤20/100) was found in (23%) at final follow-up, and one patient (8%) required enucleation for uncontrolled glaucoma.Conclusions: SWS affects approximately 0.19/100,000/year in Olmsted County. Early diagnosis, intervention, lifelong follow-up, and multidisciplinary approach should be used to optimize systemic and ocular outcomes.

Keywords: GNAQ gene; SWS in Olmsted County; Sturge–eber syndrome (SWS); epidemiology; incidence of Sturge–Weber syndrome; ocular involvement.

Figure 1.

Patients in the Rochester Epidemiology Project (REP) database with Sturge Weber Syndrome (SWS). Eight unique ICD-9, ICD-10, and HICDA codes were searched to capture all patients with SWS diagnosis. Patients with unrelated diagnoses (** infantile hemangioma, PWS elsewhere, skin nevi or other lesions, hemangiomas elsewhere), or other phakomatosis syndromes (ataxia telangiectasia, neurofibromatosis, tuberous sclerosis, or Von Hippel-Lindau) were eliminated, leaving 18 patients with possible SWS. Five cases were excluded due to insufficient data and/or imaging to confirm ocular and/or neurological involvement with PWS leaving us with 13 cases for analysis. Only six patients were included in incidence calculations.