Exudative vitreoretinopathy [17 genes]

Familial exudative vitreoretinopathy is an inherited disorder characterized by incomplete development of retinal vascularization. The clinical presentation is the result of defective retinal angiogenesis. The phenotype varies depending on the degree and extent of retinal ischemia caused, neovascularization, hyperpermeability of blood vessels, vitreoretinal traction, and retinal detachments suffered as a consequence.

Unknown

The Exudative Vitreoretinopathy service is recommended to complete the diagnostic process if this genetic disease is suspected.

In the event of high clinical suspicion, this service would be indicated. In the presence of diagnostic doubts, is preferable to request a broader panel, such as the Hereditary Vitreoretinopathies panel or the Retinal Dystrophies and Differential Diagnosis panel.

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Exudative vitreoretinopathy

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Technique: Exome

Turnaround time (TAT): 25 days

Ref. S-202313112

Updated (dd/mm/yy): 14/10/2025

Exudative vitreoretinopathy: View panel

Virtual panel based on whole exome sequencing, aimed at the simultaneous analysis of all genes with high, moderate, and low evidence related to exudative vitreoretinopathy based on current literature.

  • ARHGAP31
  • ATOH7
  • CAPN5
  • CTNNA1
  • CTNNB1
  • FZD4
  • JAG1
  • KIF11
  • LRP5
  • LRP6
  • NDP
  • RB1
  • RCBTB1
  • TGFBR2
  • TSPAN12
  • VCAN
  • ZNF408

Priority Genes: Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Phenotypes

Familial exudative vitreoretinopathy

References

  1. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {133780}: {03/02/2022}: . World Wide Web URL: https://omim.org/.

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