NF1, CAN YOU “SPOT” THE CLINICAL FEATURE?

 

Introduction:

  • Neurofibromatosis Type 1 (NF1) is a genetic condition which there is dysfunction of the neurofibromin protein which plays a role in tumor suppression and therefore causes multiple tumors of neural crest origin.1
  • Two or more of the following characteristics are needed to diagnose NF1: six or more café au lait spots, axillary or inguinal freckling, two or more cutaneous neurofibromas, one plexiform neurofibroma, distinctive osseous lesions, optic glioma, two or more Lisch nodules and a first degree relative with NF1.1
  • The known ocular findings of NF1 are Lisch nodules and optic nerve gliomas: