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).

Tests Available

Forms and Documents

Test Details

FZD4, LRP5, NDP, TSPAN12
  • 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
  • Exon Array Dx
  • Sanger/ABI sequencing

Ordering

J955
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab

Billing

81403x1; 81404x1; 81406x1; 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Gilmour, et al. (2015) Eye (London, England) : (PMID: 25323851)
  2. Sızmaz et al. (2015) Turk J Ophthalmol 45 (4):164-168 (PMID: 27800225)
  3. Toomes et al., (1997-2017) GeneReviews® https://www.ncbi.nlm.nih.gov/books/NBK1147/
  4. Liu et al. (2016) J Chin Med Assoc 79 (11):633-638 (PMID: 27720678)
  5. Kondo et al. (2007) Investigative Ophthalmology & Visual Science 48 (3):1276-82 (PMID: 17325173)
  6. Kondo H (2003) Br J Ophthalmol; 87:1291–1295 (PMID: 14507768)
  7. Toomes C et al., (2004) Am J Hum Genet; 74: 721–30 (PMID:15024691)
  8. Nallathambi et al. (2006) Mol. Vis. 12 :1086-92 (PMID: 17093393)
  9. Boonstra et al. (2009) Investigative Ophthalmology & Visual Science 50 (9):4379-85 (PMID: 19324841)
  10. Nikopoulos et al. (2010) Human Mutation 31 (6):656-66 (PMID: 20340138)
  11. Kondo et al. (2011) American Journal Of Ophthalmology 151 (6):1095-1100.e1 (PMID: 21334594)
  12. Poulter et al. (2010) American Journal Of Human Genetics 86 (2):248-53 (PMID: 20159112)
  13. Sims KB. (1999-2014) GeneReviews® https://www.ncbi.nlm.nih.gov/books/NBK1331/
  14. Riveiro-Alvarez et al. (2005) Molecular Vision 11 :705-12 (PMID: 16163268)