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GTR Home > Conditions/Phenotypes > Exudative vitreoretinopathy 4

Exudative vitreoretinopathy 4

Synonyms
LRP5-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant; LRP5-Related Familial Exudative Vitreoretinopathy, Autosomal Recessive

Summary

Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by Poulter et al., 2010). For a discussion of genetic heterogeneity of familial exudative vitreoretinopathy, see EVR1 (133780). [from OMIM]

Available tests

66 tests are in the database for this condition.

Clinical tests (66 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BMND1, EVR1, EVR4, HBM, LR3, LRP-5, LRP-7, LRP7, OPPG, OPS, OPTA1, PCLD4, VBCH2, LRP5
    Summary: LDL receptor related protein 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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