Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity

Clin Genet. 1998 Oct;54(4):315-20. doi: 10.1034/j.1399-0004.1998.5440409.x.


Two unrelated families with familial exudative vitreoretinopathy (FEVR) show apparent autosomal recessive inheritance rather than the previously reported autosomal dominant or X-linked recessive mode of inheritance. Compared with the other modes of inheritance, the inherited clinical features here include earlier onset (at birth) and a more severe progressive course.

Publication types

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

MeSH terms

  • Adult
  • Child
  • Family Health
  • Female
  • Genes, Recessive / genetics*
  • Genetic Heterogeneity
  • Humans
  • Nuclear Family
  • Pedigree
  • Vitreoretinopathy, Proliferative / genetics*
  • Vitreoretinopathy, Proliferative / pathology