Unilateral Lisch nodules in the absence of other features of neurofibromatosis 1

Am J Ophthalmol. 2003 Apr;135(4):567-8. doi: 10.1016/s0002-9394(02)01974-8.

Abstract

Purpose: To report a 14-year-old boy with unilateral Lisch nodules without any other diagnostic features of neurofibromatosis type 1.

Design: Observational case report.

Methods: A complete ophthalmologic examination and medical genetics examination was performed.

Results: By clinical examination, multiple Lisch nodules were identified in the left eye.

Conclusions: Lisch nodules, in the absence of other diagnostic features of neurofibromatosis type 1, are an atypical finding.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Genes, Neurofibromatosis 1 / physiology
  • Humans
  • Iris Neoplasms / genetics
  • Iris Neoplasms / pathology*
  • Male
  • Mutation / genetics
  • Neurofibromatosis 1 / genetics
  • Neurofibromatosis 1 / pathology*