Disease Database Vitreoretinopathies and Vitreoretinal Degenerations

Recent update from: 07.03.04

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

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., Weingeist,T.A., Sheffield,C., and Stone,E.M. 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. 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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6. 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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7. 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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8. 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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9. 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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10. 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 to PubMed
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11. 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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12. 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
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13. 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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Contact the editor	Return to Disease Database Page	This site is maintained and edited by Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz