GTR Home > Conditions/Phenotypes > Familial exudative vitreoretinopathy

Disease characteristics

Excerpted from the GeneReview: Familial Exudative Vitreoretinopathy, Autosomal Dominant
Autosomal dominant familial exudative vitreoretinopathy (adFEVR) is characterized by failure of peripheral retinal vascularization. The visual problems and variable phenotype associated with adFEVR result from secondary complications caused by retinal ischemia. The retinal avascularity is probably present from birth and generates sequelae that stabilize in early adult life or progress in later life. Expressivity may be asymmetric and is highly variable, ranging from mild or asymptomatic to severe (e.g., registered as blind) within the same family.

Associated genes

  • Also known as: CD344, EVR1, FEVR, FZD4S, Fz-4, Fz4, FzE4, GPCR, hFz4, FZD4
    Summary: frizzled class receptor 4

  • Also known as: BMND1, EVR1, EVR4, HBM, LR3, LRP-5, LRP7, OPPG, OPS, OPTA1, VBCH2, LRP5
    Summary: low density lipoprotein receptor-related protein 5

Clinical features

Help
  • Retinal exudate
  • Peripheral retinal avascularization
  • Subcapsular cataract
  • Retinal detachment
  • Vitreous hemorrhage
  • Blindness
  • Pigmentary retinal degeneration
  • Vitreous detachment
  • Falciform retinal fold
  • Recurrent fractures
Show all (10)

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Write to the Help Desk