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Disease Database


Recent update from: 24.03.2010

This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Laboratory of Molecular Ophthalmology
Department of Opthalmology
Justus-Liebig-University, Giessen, Germany
Head: Prof. Dr. med. Birgit Lorenz

This site includes links which are off influence of Retina International and do not neccessarily reflect the opinion of Retina International. Therefore, we refrain from any responsibility for these external links.

Disease Gene locus MIM Gene Gene MIM MoI Assignment

Linked Marker [cM] Remarks References
Autosomal Dominant Familial Exudative Vitreoretinopathy DFEV
TSPAN12 613138 ar 7q31

ad familiar exudative EVR1 133780 FZD4 604579 ad 11q13-23

D11S937- D11S4172- D11S1362- D11S2002- D11S901- D11S1887- CA2AP001528- FDZ4- D11S896- D11S4082- D11S1780-CA2AC023888- D11S1367- D11S873- D11S1311
ar familiar exudative FEVR 601813 LRP5 603506 ar 11q13.4

ad familiar exudative EVR3 605750

ad 11p12-13

EVR1- D11S1981- [14 cM GATA34E08- D11S904- D11S2364- D11S2001- D11S2010- D11S4965- D11S1392- D11S935- D11S4102]- D11S4966- D11S1911- D11S905- D11S1785- D11S903
  • Penetrance is estimated to reach 100% when pedigrees are tested by angiography
  • Link(3)
    ad familiar exudative EVR1 133780 LRP5 603506 ad 11q13.4

    Autosomal Dominant Snowflake Vitreoretinal Degeneration SVD 193230 KCNJ13 603208 ad 2q37

    neovascular inflammatory VRNI 193235

    ad 11q13

    INT2- D11S4166
    Hyaloideoretinal Degeneration of Wagner WGN1 143200

    ar 5q13-14


    Hyaloideoretinal Degeneration of Wagner WGN2 143200 COL2A1 120140 ar 12q13.11-13.2

    Erosive vitreoretinopathy and Wagner disease WGN1 143200 CSPG2 118661 ar 5q12-14

    x-linked familiar exudative XEFVR 305390 NDP 310600 xl Xp11.3-11.23

    MoI = Mode of Inheritance: a: autosomal, ad: autosomal dominant, ar: autosomal recessive, xl: x-linked, mt: mitochondrial


    1. Black,G.C., Perveen,R., Wiszniewski,W., Dodd,C.L., Donnai,D., and McLeod,D. A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14. 1999; Ophthalmology. 106: 2074-2081.
      Link Goto Top
    2. Brown,D.M., Graemiger,R.A., Hergersberg,M., Schinzel,A., Messmer,E.P., Niemeyer,G., Schneeberger,S.A., Streb,L.M., Taylor,C.M., Kimura,A.E., and . Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14. 1995; Arch Ophthalmol. 113: 671-675.
      Link Goto Top
    3. Downey,L.M., Keen,T.J., Roberts,E., Mansfield,D.C., Bamashmus,M., Inglehearn,C.F., Heon,E., Paterson,A.D., Fraser,M., Billingsley,G., Priston,M., Balmer,A., Schorderet,D.F., Verner,A., Hudson,T.J., Munier,F.L., Ringpfeil,F., Nakano,A., Uitto,J., Pulkkinen,L., Uitto,J., Pulkkinen,L., Ringpfeil,F., Ringpfeil,F., Lebwohl,M.G., and Uitto,J. A New Locus for Autosomal Dominant Familial Exudative Vitreoretinopathy Maps to Chromosome 11p12-13 A Progressive Autosomal Recessive Cataract Locus Maps to Chromosome 9q13-q22. 2000; J.Invest Dermatol. 115: 332
      Link Goto Top
    4. Fuchs,S., Kellner,U., Wedemann,H., and Gal,A. Missense mutation (Arg121Trp) in the Norrie disease gene associated with x-linked exudative vitreoretinopathy. 1995; Hum.Mutat. 6: 257-259.
      Link Goto Top
    5. Hejtmancik,J.F., Jiao,X., Li,A., Sergeev,Y.V., Ding,X., Sharma,A.K., Chan,C.C., Medina,I., and Edwards,A.O. Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration. 2008; Am.J.Hum.Genet. 82: 174-180.
      Link Goto Top
    6. Jiao,X., Ritter,R., III, Hejtmancik,J.F., and Edwards,A.O. Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36. 2004; Invest Ophthalmol Vis.Sci. 45: 4498-4503.
      Link Goto Top
    7. Jiao,X., Ventruto,V., Trese,M.T., Shastry,B.S., and Hejtmancik,J.F. Autosomal Recessive Familial Exudative Vitreoretinopathy Is Associated with Mutations in LRP5. 2004; Am.J.Hum.Genet. 75: 878-884.
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    8. Kloeckener-Gruissem,B., Bartholdi,D., Abdou,M.T., Zimmermann,D.R., and Berger,W. Identification of the genetic defect in the original Wagner syndrome family. 2006; Mol.Vis. 12:350-5.: 350-355.
      Link Goto Top
    9. Korkko,J., Ritvaniemi,P., Haataja,L., Kaariainen,H., Kivirikko,K.I., Prockop,D.J., and Ala Kokko,L. Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1 - 67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy). 1993; Am.J.Hum.Genet. 53: 55-61.
      Link Goto Top
    10. Li,Y., Fuhrmann,C., Schwinger,E., Gal,A., and Laqua,H. The gene for autosomal dominant familial exudative vitreoretinopathy (Criswick-Schepens) on the long arm of chromosome 11. 1992; Am.J.Ophthalmol. 113: 712-713.
      Link Goto Top
    11. Li,Y., Muller,B., Fuhrmann,C., van Nouhuys,C.E., Laqua,H., Humphries,P., Schwinger,E., and Gal,A. The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533. 1992; Am.J.Hum.Genet. 51: 749-754.
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    12. Miyamoto,T., Inoue,H., Sakamoto,Y., Kudo,E., Naito,T., Mikawa,T., Mikawa,Y., Isashiki,Y., Osabe,D., Shinohara,S., Shiota,H., and Itakura,M. Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome. 2005; Invest Ophthalmol Vis.Sci. 46: 2726-2735.
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    13. Mukhopadhyay,A., Nikopoulos,K., Maugeri,A., de Brouwer,A.P., van Nouhuys,C.E., Boon,C.J., Perveen,R., Zegers,H.A., Wittebol-Post,D., van den Biesen,P.R., van der Velde-Visser SD, Brunner,H.G., Black,G.C., Hoyng,C.B., and Cremers,F.P. Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants. 2006; Invest Ophthalmol Vis.Sci. 47: 3565-3572.
      Link Goto Top
    14. Muller,B., Orth,U., van Nouhuys,C.E., Duvigneau,C., Fuhrmann,C., Schwinger,E., Laqua,H., and Gal,A. Mapping of the autosomal dominant exudative vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four families. 1994; Genomics. 20: 317-319.
      Link Goto Top
    15. Nikopoulos,K., Gilissen,C., Hoischen,A., van Nouhuys,C.E., Boonstra,F.N., Blokland,E.A., Arts,P., Wieskamp,N., Strom,T.M., Ayuso,C., Tilanus,M.A., Bouwhuis,S., Mukhopadhyay,A., Scheffer,H., Hoefsloot,L.H., Veltman,J.A., Cremers,F.P., and Collin,R.W. Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. 2010; Am.J.Hum.Genet. 86: 240-247.
      Link Goto Top
    16. Poulter,J.A., Ali,M., Gilmour,D.F., Rice,A., Kondo,H., Hayashi,K., Mackey,D.A., Kearns,L.S., Ruddle,J.B., Craig,J.E., Pierce,E.A., Downey,L.M., Mohamed,M.D., Markham,A.F., Inglehearn,C.F., and Toomes,C. Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. 2010; Am.J.Hum.Genet. 86: 248-253.
      Link Goto Top
    17. Robitaille,J., MacDonald,M.L., Kaykas,A., Sheldahl,L.C., Zeisler,J., Dube,M.P., Zhang,L.H., Singaraja,R.R., Guernsey,D.L., Zheng,B., Siebert,L.F., Hoskin-Mott,A., Trese,M.T., Pimstone,S.N., Shastry,B.S., Moon,R.T., Hayden,M.R., Goldberg,Y.P., and Samuels,M.E. Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. 2002; Nat.Genet. 32: 326-330.
      Link Goto Top
    18. Shastry,B.S., Hejtmancik,J.F., Plager,D.A., Hartzer,M.K., and Trese,M.T. Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy. 1995; Genomics. 27: 341-344.
      Link Goto Top
    19. Shastry,B.S., Hejtmancik,J.F., and Trese,M.T. Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy. 1997; Hum.Mutat. 9: 396-401.
      Link Goto Top
    20. Sonkin,P.L., Brown,J., Folk,J.C., Taylor,C.M., Affatigato,L.M., Sheffield,V.C., and Stone,E.M. Clinical Characterization Of A Second Family With Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV) And Fine Mapping Of The Disease Interval. 1997; Invest.Ophthalmol.Vis.Sci. 38: S796 Goto Top
    21. Stone,E.M., Kimura,A.E., Folk,J.C., Bennett,S.R., Nichols,B.E., Streb,L.M., and Sheffield,V.C. Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13. 1992; Hum.Mol.Genet. 1: 685-689.
      Link Goto Top
    22. Toomes,C., Bottomley,H.M., Jackson,R.M., Towns,K.V., Scott,S., Mackey,D.A., Craig,J.E., Jiang,L., Yang,Z., Trembath,R., Woodruff,G., Gregory-Evans,C.Y., Gregory-Evans,K., Parker,M.J., Black,G.C., Downey,L.M., Zhang,K., and Inglehearn,C.F. Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. 2004; Am.J.Hum.Genet. 74: 721-730.
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