Blindness, deafness, quadriparesis, and a retinal malformation: the ravages of neurofibromatosis 2.

Abstract

Advances in molecular biology have established that the diseases once collectively referred to as neurofibromatosis are actually genetically distinct and clinically heterogenous conditions. This realization has led to separate definitions for neurofibromatosis (NF) type 1 and 2. Although ophthalmologic manifestations of NF1 have long been recognized, the distinguishing ocular features of NF2 have only recently received attention. We describe an inferior retinopapillary malformation with an overlying glial hamartoma in a deaf, quadriparetic patient with NF2. Magnetic resonance (MR) imaging initially showed bilateral vestibular schwannomas and a large cervical ependymoma. Over six years of follow-up, the patient developed multiple intracranial meningiomas.

• Authors: G A Rettele, M C Brodsky, L M Merin, C Teo, C M Glasier
• Journal: Survey of ophthalmology (Surv Ophthalmol) 1996 Sep-Oct Vol. 41 Issue 2 Pg. 135-41 ISSN: 0039-6257 [Print] United States
• PMID: 8890439 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Adult
• Blindness (pathology)
• Brain Neoplasms (diagnosis)
• Deafness (pathology)
• Ear Neoplasms (diagnosis)
• Ependymoma (diagnosis)
• Hamartoma (diagnosis)
• Humans
• Magnetic Resonance Imaging
• Male
• Neoplasms (diagnosis)
• Neurofibromatosis 2 (diagnosis, genetics)
• Neuroma, Acoustic (diagnosis)
• Optic Disk (abnormalities, pathology)
• Quadriplegia (pathology)
• Retina (abnormalities, pathology)
• Tomography, X-Ray Computed