X-linked recessive familial exudative vitreoretinopathy

Am J Ophthalmol. 1992 Aug 15;114(2):145-8. doi: 10.1016/s0002-9394(14)73977-7.


Familial exudative vitreoretinopathy is an inherited disorder characterized by retinal traction, peripheral vitreous opacities, and subretinal and intraretinal exudates. We observed a family in which four boys (the children of three sisters) were affected with this disorder and an X-linked recessive inheritance was apparent. The differential diagnosis includes retinopathy of prematurity, primary hyperplastic primary vitreous, Coats' disease, peripheral uveitis, retinoblastoma, and Norrie's disease, but this differentiation can usually be made on the basis of clinical findings alone. Knowledge of X-linked recessive transmission is important for correct diagnosis and for genetic counseling.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Chromosome Aberrations / diagnosis
  • Chromosome Disorders
  • Diagnosis, Differential
  • Exudates and Transudates
  • Eye Diseases / diagnosis
  • Eye Diseases / genetics
  • Genetic Linkage / genetics*
  • Humans
  • Infant
  • Male
  • Pedigree
  • Retinal Diseases / diagnosis
  • Retinal Diseases / genetics*
  • Vitreous Body*
  • X Chromosome*