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

Garrick A. Rettele, Michael C. Brodsky, Lawrence M. Merin, Charles Teo, Charles M. Glasier

Research output: Contribution to journalArticle

21 Scopus citations

Abstract

Advance 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.

Original languageEnglish (US)
Pages (from-to)135-141
Number of pages7
JournalSurvey of ophthalmology
Volume41
Issue number2
DOIs
StatePublished - Jan 1 1996

Keywords

  • cervical ependymoma
  • combined hamartoma
  • neurofibromatosis type 2
  • vestibular schwannoma

ASJC Scopus subject areas

  • Ophthalmology

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