neurofibromatosis type 1: orbital manifestations

Orbital manifestations of neurofibromatosis type 1 (NF1) reflects a mix of CNS, musculoskeletal and ocular disease. Usually, only one orbit is affected, commonly associated with an ipsilateral extracranial disease.

Pathology

NF1 manifests in the orbit in the following ways :

• plexiform neurofibromas of the intra-orbital cranial nerves, optic nerve sheath and/or sclera
• Lisch nodules: iris hamartomas
• sphenoid wing dysplasia
  • can results in herniation of middle cranial fossa contents into the orbit
  • bare orbit sign may be present
• congenital glaucoma
• buphthalmos
  • enlargement of the globe
• optic nerve glioma

Siehe auch:

• Neurofibromatose Typ 1
• sphenoid wing dysplasia
• orbital plexiform neurofibroma