Anophthalmia: an uncommon manifestation of neurofibromatosis type 1

J Craniofac Surg. 2011 Nov;22(6):e47-8. doi: 10.1097/SCS.0b013e318231e259.

Abstract

Neurofibromatosis type 1 (NF-1) is an autosomal dominant, multisystem disorder, affecting approximately 1 of 3500 people. Ocular disorders, such as Lisch nodules, optic gliomas, and anterior segment defects, are typical with clinical presentation. Anophthalmia, as a rare eye malformation, has never been reported in patients with NF-1. We report a 27-year-old patient in whom clinical manifestations of café au lait spots, neurofibromas, osseous orbital dysplasia, and anophthalmia were observed. The diagnosis of NF-1 was made, according to clinical course and brain computed tomography and magnetic resonance imaging. Because the patient refused aggressive management approaches, she was managed conservatively and is well on follow-up. We suggest that patients presenting with anophthalmia need serious evaluation and that NF-1 needs to be considered in the differential diagnosis.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anophthalmos / diagnosis*
  • Anophthalmos / therapy
  • Diagnosis, Differential
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Neurofibromatosis 1 / diagnosis*
  • Neurofibromatosis 1 / therapy
  • Tomography, X-Ray Computed