title: Bilateral optic nerve drusen and gliomas in Klippel-Trenaunay syndrome.
abstract: Klippel-Trenaunay syndrome (KTS) consists of a vascular nevus involving an extremity, varicosities of that extremity, and hypertrophy of bone and soft tissue. When arteriovenous malformation is also present, it is called Klippel-Trenaunay-Weber syndrome (KTWS). Ophthalmic features of these syndromes include vascular anomalies of the orbit, iris, retina, choroid, and optic nerve. We report a case of a 16-year-old girl with KTS who was found to have bilateral optic nerve and chiasmal gliomas, optic disk drusen, and acquired myelination of the retinal nerve fiber layer. These findings have not been previously reported to be associated with KTS or KTWS.
authors.affiliation: Department of Ophthalmology, University of Minnesota, Minneapolis, MN 55455, USA. bothu003@umn.edu
authors.forename: Erick D
authors.initials: ED
authors.lastname: Bothun
authors.forename: Tim
authors.initials: T
authors.lastname: Kao
authors.forename: Yan
authors.initials: Y
authors.lastname: Guo
authors.forename: Stephen P
authors.initials: SP
authors.lastname: Christiansen
mesh_terms: D000293:Adolescent; D005260:Female; D005500:Follow-Up Studies; D007839:Functional Laterality; D006801:Humans; D007715:Klippel-Trenaunay-Weber Syndrome / Q000150:complications* / Q000175:diagnosis; D008279:Magnetic Resonance Imaging; D009413:Nerve Fibers, Myelinated / Q000473:pathology*; D009897:Optic Chiasm / Q000473:pathology*; D015594:Optic Disk Drusen / Q000175:diagnosis / Q000209:etiology*; D020339:Optic Nerve Glioma / Q000175:diagnosis / Q000209:etiology*; D019574:Optic Nerve Neoplasms / Q000175:diagnosis / Q000209:etiology*; D012165:Retinal Ganglion Cells / Q000473:pathology*; D014057:Tomography, X-Ray Computed