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: Erick D Bothun, Tim Kao, Yan Guo, Stephen P Christiansen
• Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus (J AAPOS) Vol. 15 Issue 1 Pg. 77-9 (Feb 2011) ISSN: 1528-3933 [Electronic] United States
• PMID: 21315629 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2011 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.

Topics

• Adolescent
• Female
• Follow-Up Studies
• Functional Laterality
• Humans
• Klippel-Trenaunay-Weber Syndrome (complications, diagnosis)
• Magnetic Resonance Imaging
• Nerve Fibers, Myelinated (pathology)
• Optic Chiasm (pathology)
• Optic Disk Drusen (diagnosis, etiology)
• Optic Nerve Glioma (diagnosis, etiology)
• Optic Nerve Neoplasms (diagnosis, etiology)
• Retinal Ganglion Cells (pathology)
• Tomography, X-Ray Computed