GTR Home > Conditions/Phenotypes > Exudative vitreoretinopathy 5

Summary

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.

Available tests

24 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: EVR5, NET-2, NET2, TM4SF12, TSPAN12
    Summary: tetraspanin 12

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