Persistent hyperplastic primary vitreous in association with neurofibromatosis 2

J Pediatr Ophthalmol Strabismus. 2005 Jul-Aug;42(4):247-9. doi: 10.3928/01913913-20050701-10.

Abstract

We describe a father and son with persistent hyperplastic primary vitreous occurring in association with neurofibromatosis 2. This report demonstrates rare vertical transmission compatible with autosomal dominant inheritance and the uncommon association of the autosomal dominant systemic disorder neurofibromatosis 2.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child
  • Eye Abnormalities / diagnosis
  • Eye Abnormalities / genetics*
  • Humans
  • Hyperplasia
  • Infectious Disease Transmission, Vertical*
  • Male
  • Neurofibromatosis 2 / diagnosis
  • Neurofibromatosis 2 / genetics*
  • Vitreous Body / abnormalities*
  • Vitreous Body / blood supply
  • Vitreous Body / pathology*