The ocular presentation of neurofibromatosis 2

Abstract

Neurofibromatosis 2 (NF2) is an inherited disorder characterised primarily by bilateral vestibular schwannomas and other central nervous system tumours. Individuals with NF2 also have early onset cortical and posterior subcapsular or capsular cataract and other ocular abnormalities, such as retinal hamartomas. Although their diagnostic significance is rarely appreciated, the ocular manifestations are often the first sign of disease. We describe 5 cases that illustrate the diverse ocular manifestations of NF2

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Correspondence to Nicola K Ragge.

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Ragge, N., Baser, M., Riccardi, V. et al. The ocular presentation of neurofibromatosis 2. Eye 11, 12–18 (1997). https://doi.org/10.1038/eye.1997.3

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Keywords

  • Astrocytic hamartoma
  • Cataract
  • Neurofibromatosis 2
  • Eye
  • Epiretinal membrane
  • Tumour suppressor gene
  • Combined pigment epithelial and retinal hamartoma

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