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GTR Home > Conditions/Phenotypes > Exudative vitreoretinopathy 5

Exudative vitreoretinopathy 5

Synonyms
TSPAN12-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant

Summary

Familial exudative vitreoretinopathy is an inherited blinding disorder caused by defects in the development of retinal vasculature. There is extensive variation in disease severity among patients, even between members of the same family. Severely affected individuals often are registered as blind during infancy and can present with a phenotype resembling retinal dysplasia. Conversely, mildly affected individuals frequently have few or no visual problems and may have just a small area of avascularity in their peripheral retina, detectable only by fluorescein angiography (summary by Poulter et al., 2012). For a discussion of genetic heterogeneity of familial exudative vitreoretinopathy (FEVR), see EVR1 (133780). [from OMIM]

Available tests

40 tests are in the database for this condition.

Clinical tests (40 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

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

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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