Disease Database Colour Vision Defects

Recent update from: 10.03.04

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

References

1. Aligianis,I.A., Forshew,T., Johnson,S., Michaelides,M., Johnson,C.A., Trembath,R.C., Hunt,D.M., Moore,A.T., and Maher,E.R. Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). 2002; J.Med.Genet. 39: 656-660.
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2. Arbour,N.C., Zlotogora,J., Knowlton,R.G., Merin,S., Rosenmann,A., Kanis,A.B., Rokhlina,T., Stone,E.M., and Sheffield,V.C. Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling. 1997; Hum.Mol.Genet. 6: 689-694.
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3. Fitzgibbon,J., Appukuttan,B., Gayther,S., Wells,D., Delhanty,J., and Hunt,D.M. Localisation of the human blue cone pigment gene to chromosome band 7q31.3-32. 1994; Hum.Genet. 93: 79-80.
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4. Kohl,S., Baumann,B., Broghammer,M., Jagle,H., Sieving,P., Kellner,U., Spegal,R., Anastasi,M., Zrenner,E., Sharpe,L.T., and Wissinger,B. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. 2000; Hum.Mol.Genet. 9: 2107-2116.
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5. Kohl,S., Marx,T., Giddings,I., Jagle,H., Jacobson,S.G., Apfelstedt-Sylla,E., Zrenner,E., Sharpe,L.T., and Wissinger,B. Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. 1998; Nat.Genet. 19: 257-259.
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6. Milunsky,A., Huang,X.L., Milunsky,J., DeStefano,A., and Baldwin,C.T. A locus for autosomal recessive achromatopsia on human chromosome 8q. 1999; Clin Genet. 56: 82-85.
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7. Nathans,J., Piantanida,T.P., Eddy,R.L., Shows,T.B., and Hogness,D.S. Molecular genetics of inherited variation in human color vision. 1986; Science. 232: 203-210.
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8. Sundin,O.H., Yang,J.M., Li,Y., Zhu,D., Hurd,J.N., Mitchell,T.N., Silva,E.D., and Maumenee,I.H. Genetic basis of total colourblindness among the Pingelapese islanders. 2000; Nat.Genet. 25: 289-293.
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9. Weitz,C.J., Miyake,Y., Shinzato,K., Montag,E., Zrenner,E., Went,L.N., and Nathans,J. Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. 1992; Am.J.Hum.Genet. 50: 498-507.
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10. Winderickx,J., Battisti,L., Motulsky,A.G., and Deeb,S.S. Selective expression of human X chromosome-linked green opsin genes. 1992; Proc.Natl.Acad.Sci.U.S.A. 89: 9710-9714.
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11. Winick,J.D., Blundell,M.L., Galke,B.L., Salam,A.A., Leal,S.M., and Karayiorgou,M. Homozygosity mapping of the Achromatopsia locus in the Pingelapese. 1999; Am.J.Hum.Genet. 64: 1679-1685.
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12. Yamaguchi,T., Motulsky,A.G., and Deeb,S.S. Visual pigment gene structure and expression in human retinae. 1997; Hum.Mol.Genet. 6: 981-990.
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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