Familial Exudative Vitreoretinopathy

  • Ulrich Spandau
  • Sang Jin Kim


This chapter is about familial exudative vitreoretinopathy. The diagnosis and classification of this hereditary disease is clarified. In addition, fluorescein angiography findings and OCT features are demonstrated and explained.


Familial exudative vitreoretinopathy 


  1. 1.
    Criswick VG, Schepens CL. Familial exudative vitreoretinopathy. Am J Ophthalmol. 1969;68:578–94.CrossRefGoogle Scholar
  2. 2.
    Canny CL, Oliver GL. Fluorescein angiographic findings in familial exudative vitreoretinopathy. Arch Ophthalmol. 1976;94:1114–20.CrossRefGoogle Scholar
  3. 3.
    Pendergast SD, Trese MT. Familial exudative vitreoretinopathy. Results of surgical management. Ophthalmology. 1998;105:1015–23.CrossRefGoogle Scholar
  4. 4.
    Kashani AH, Brown KT, Chang E, Drenser KA, Capone A, Trese MT. Diversity of retinal vascular anomalies in patients with familial exudative vitreoretinopathy. Ophthalmology. 2014;121:2220–7.CrossRefGoogle Scholar
  5. 5.
    Gilmour DF. Familial exudative vitreoretinopathy and related retinopathies. Eye (Lond). 2015;29:1–14. Epub 2014 Oct 17.CrossRefGoogle Scholar
  6. 6.
    Collin RW, Nikopoulos K, Dona M, Gilissen C, Hoischen A, Boonstra FN, Poulter JA, Kondo H, Berger W, Toomes C, Tahira T, Mohn LR, Blokland EA, Hetterschijt L, Ali M, Groothuismink JM, Duijkers L, Inglehearn CF, Sollfrank L, Strom TM, Uchio E, van Nouhuys CE, Kremer H, Veltman JA, van Wijk E, Cremers FP. ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proc Natl Acad Sci U S A. 2013;110:9856–61.CrossRefGoogle Scholar
  7. 7.
    Robitaille JM, Gillett RM, LeBlanc MA, Gaston D, Nightingale M, Mackley MP, Parkash S, Hathaway J, Thomas A, Ells A, Traboulsi EI, Héon E, Roy M, Shalev S, Fernandez CV, MacGillivray C, Wallace K, Fahiminiya S, Majewski J, McMaster CR, Bedard K. Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations. JAMA Ophthalmol. 2014;132:1393–9.CrossRefGoogle Scholar
  8. 8.
    Hu H, Xiao X, Li S, Jia X, Guo X, Zhang Q. KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy. Br J Ophthalmol. 2016;100:278–83.CrossRefGoogle Scholar
  9. 9.
    Karjosukarso DW, Cremers FPM, van Nouhuys CE, Collin RWJ. Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly. Eur J Hum Genet. 2018;26:1819–23. (E-pub).CrossRefPubMedPubMedCentralGoogle Scholar
  10. 10.
    Ranchod TM, Ho LY, Drenser KA, Capone A Jr, Trese MT. Clinical presentation of familial exudative vitreoretinopathy. Ophthalmology. 2011;118:2070–5.CrossRefGoogle Scholar
  11. 11.
    Kashani AH, Learned D, Nudleman E, Drenser KA, Capone A, Trese MT. High prevalence of peripheral retinal vascular anomalies in family members of patients with familial exudative vitreoretinopathy. Ophthalmology. 2014;121:262–8.CrossRefGoogle Scholar
  12. 12.
    John VJ, McClintic JI, Hess DJ, Berrocal AM. Retinopathy of prematurity versus familial exudative vitreoretinopathy: report on clinical and angiographic findings. Ophthalmic Surg Lasers Imaging Retina. 2016;47:14–9.CrossRefGoogle Scholar
  13. 13.
    Shimouchi A, Takahashi A, Nagaoka T, Ishibazawa A, Yoshida A. Vitreomacular interface in patients with familial exudative vitreoretinopathy. Int Ophthalmol. 2013;33:711–5.CrossRefGoogle Scholar
  14. 14.
    Yonekawa Y, Thomas BJ, Drenser KA, Trese MT, Capone A Jr. Familial exudative vitreoretinopathy: spectral-domain optical coherence tomography of the vitreoretinal interface, retina, and choroid. Ophthalmology. 2015;122:2270–7.CrossRefGoogle Scholar
  15. 15.
    Laqua H. Familial exudative vitreoretinopathy. Albrecht Von Graefes Arch Klin Exp Ophthalmol. 1980;213:121–33.CrossRefGoogle Scholar
  16. 16.
    Miyakubo H, Hashimoto K, Miyakubo S. Retinal vascular pattern in familial exudative vitreoretinopathy. Ophthalmology. 1984;91:1524–30.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Ulrich Spandau
    • 1
  • Sang Jin Kim
    • 2
  1. 1.OphthalmologyUniversity of Uppsala OphthalmologyUppsalaSweden
  2. 2.Department of OphthalmologySamsung Medical Center, Sungkyunkwan UniversitySeoulSouth Korea

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