Anna Vetter, Annette Zimpfer, Björn Schneider, Andreas Erbersdobler, Tobias Brockmann, Thomas Fuchsluger, Claudia Brockmann
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Abstract
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.
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