Familial Exudative Vitreoretinopathy

Familial Exudative Vitreoretinopathy (FEVR) is a hereditary disorder characterized by impaired vascularization of parts of the peripheral retina leading to various secondary complications, such as retinal neovascularization, dragged macula, exudation vitreous hemorrhage, retinal fold and retinal detachment. The most serious complications may result in complete blindness. To detect subtle retinal changes, intravenous fluorescein angiography is required. In addition, reduced mass bone density predisposing to bone fractures has been reported in FEVR patients with dominant LRP5 mutations (Toomes, 2004).

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Test Details

  • Poor vascularization of the peripheral retina seen on fundus fluorescein angiography
  • Vision loss in addition to retinal detachment, dragged macula, neovascularization, whiteness of the pupil (leukocoria), intraretinal hemorrhage and exudation
  • Osteopenia and osteoporosis in addition to ocular findings above
  • Potentially normal vision and absence of any ocular symptoms despite abnormal retinal blood vessels development


3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.


81403x1; 81404x1; 81406x1; 81479x1
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.


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