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.

背景： Sturge-Weber 综合征 (SWS) 是一种罕见的散发性综合征，其特征是三叉神经分布中的火痣（葡萄酒色斑，PWS）、弥漫性脉络膜血管瘤和脑软脑膜血管瘤。我们不知道美国以前关于 SWS 发病率的报告。本研究调查了明尼苏达州奥姆斯特德县的 SWS 发病率和相关的眼部受累情况。

材料和方法：罗切斯特流行病学项目数据库用于识别 2000 年 1 月 1 日至 2017 年 12 月 31 日的 SWS 病例。使用奥姆斯特德县人口普查人口计算 SWS 的发病率。还对调查 SWS 相关眼部受累的研究进行了文献综述。

结果：奥姆斯特德县有 13 名 SWS 患者被分类为 1 型 (31%) 或 2 型 (69%)。SWS的年龄和性别调整发病率为0.19/100,000/年。种族主要是高加索人（85%），性别为女性（69%）或男性（31%）。所有患者均患有 PWS，大部分在 V1 和/或 V2 区域呈单侧分布（85%）。两例 (15%) 与 Klippel-Trenaunay 综合征相关。最常见的眼部特征包括：扩张的巩膜外血管 (46%)、青光眼 (46%)、视网膜脱离 (23%)、DCH (7.7%)、斜视 (31%) 和屈光不正 (38%)。V1 分布中的 PWS 与所有青光眼、DCH 和神经系统受累病例相关。在最后一次随访中（23%）发现了严重的视力障碍（>0.6 LogMAR，Snellen 等效≤20/100），一名患者（8%）因未控制的青光眼需要摘除。

结论： SWS 在奥姆斯特德县影响大约 0.19/100,000/年。应使用早期诊断、干预、终身随访和多学科方法来优化系统和眼部结果。