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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

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References

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.
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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.
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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
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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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