Neuro-ophthalmic features of the neurocutaneous syndromes

Int Ophthalmol Clin. 2012 Summer;52(3):73-85, xi. doi: 10.1097/IIO.0b013e318259df76.

Abstract

This review highlights the diagnostic criteria and neuro-ophthalmic symptoms and signs of the more commonly seen neurocutaneous disorders, including NF1 and NF2, tuberous sclerosis, VHL disease, Sturge-Weber disease, and AT. The distinct neuro-ophthalmic features in each of these hereditary and congenital disorders play an important role in clinical diagnosis.

Publication types

  • Review

MeSH terms

  • Ataxia Telangiectasia / diagnosis
  • Ataxia Telangiectasia / genetics
  • Brain Diseases / diagnosis*
  • Brain Diseases / genetics
  • Eye Diseases / diagnosis*
  • Eye Diseases / genetics
  • Humans
  • Neurocutaneous Syndromes / diagnosis*
  • Neurocutaneous Syndromes / genetics
  • Neurofibromatosis 1 / diagnosis
  • Neurofibromatosis 1 / genetics
  • Neurofibromatosis 2 / diagnosis
  • Neurofibromatosis 2 / genetics
  • Tuberous Sclerosis / diagnosis
  • Tuberous Sclerosis / genetics
  • von Hippel-Lindau Disease / diagnosis
  • von Hippel-Lindau Disease / genetics