Vetter Anna, Zimpfer Annette, Schneider Björn, Erbersdobler Andreas, Brockmann Tobias, Fuchsluger Thomas, Brockmann Claudia
Institut für Pathologie, Universitätsmedizin Rostock, Strempelstr. 14, 18057, Rostock, Deutschland.
Klinik und Poliklinik für Augenheilkunde, Universitätsmedizin Rostock, Rostock, Deutschland.
Pathologie (Heidelb). 2025 Feb;46(1):51-55. doi: 10.1007/s00292-024-01373-y. Epub 2024 Oct 29.
We report on a 19-year-old patient with Sturge-Weber syndrome (SWS), accompanied by a Naevus flammeus, secondary glaucoma, and glaucomatous optic atrophy of the right eye. The painful and blind eye was enucleated. Histopathological analysis revealed a circumscribed choroidal hemangioma around the optic nerve and a smaller extrascleral hemangioma. Molecular genetic testing excluded GNA11, GNAQ, or GNAS mutations. Our work illuminates the clinical, histological, and molecular genetic aspects of this rare case, contributing to the differential diagnosis of ocular conditions in patients with SWS.
我们报告了一名19岁的患有斯特奇-韦伯综合征(SWS)的患者,伴有葡萄酒色斑、继发性青光眼和右眼青光眼性视神经萎缩。疼痛且失明的眼睛被摘除。组织病理学分析显示视神经周围有一个局限性脉络膜血管瘤和一个较小的巩膜外血管瘤。分子基因检测排除了GNA11、GNAQ或GNAS突变。我们的工作阐明了这一罕见病例的临床、组织学和分子遗传学方面,有助于SWS患者眼部疾病的鉴别诊断。