Contact the Editor


Disease Database

Colour Vision Deficiencies

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

Disease Gene locus MIM Gene Gene MIM MoI Assignment

Linked Marker [cM] Remarks References
303800 GCP,RCP
xl Xq28

303900 GCP,RCP
xl Xq28

190900 BCP
ad 7q31.3-32

Achromatopsia ACHM1 603096

ar 14

  • Maternal uniparental isodisomy
  • (7)
    Achromatopsia ACHM2 216900 CNGA3 600053 ar 2p11-q12

    D2S388- D2S373 [14]
    Achromatopsia ACHM3 262300 CNGB3 605080 ar 8q21.1-22.1

    D8S2324- D8S1475- D8S1105- D8S1757- D8S275- D8S1119- D8S1707- D8S273- D8S270- D8S1794- D8S1822- D8S1778- D8S1762- D8S546- D8S521- D8S1459
  • PDP
  • Pingelapese Islanders
  • German
  • American
  • Link(8)
    Achromatopsia ACHM4
    GNAT2 139340 ar 1p13

    D1S485 and D1S2881
    MoI = Mode of Inheritance: a: autosomal, ad: autosomal dominant, ar: autosomal recessive, xl: x-linked, mt: mitochondrial


    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.
      Link Goto Top
    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.
      Link Goto Top
    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.
      Link Goto Top
    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.
      Link Goto Top
    5. Kohl,S., Baumann,B., Rosenberg,T., Kellner,U., Lorenz,B., Vadala,M., Jacobson,S.G., and Wissinger,B. Mutations in the Cone Photoreceptor G-Protein alpha-Subunit Gene GNAT2 in Patients with Achromatopsia. 2002; Am.J.Hum.Genet. 71: 422-425.
      Link Goto Top
    6. 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.
      Link Goto Top
    7. Lewis,R.A., Pentao,L., Ledbetter,D.H., Patel,P.I., and Lupski,J.R. An assignment for rod-monochromacy to chromosome 14 suggested by uniparental isodisomy. 1991; Am.J.Hum.Genet. 49(4) Suppl: Ab Goto Top
    8. 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.
      Link Goto Top
    9. 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.
      Link Goto Top
    10. Pentao,L., Lewis,R.A., Ledbetter,D.H., Patel,P.I., and Lupski,J.R. Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. 1992; Am.J.Hum.Genet. 50: 690-699.
      Link Goto Top
    11. 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.
      Link Goto Top
    12. 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.
      Link Goto Top
    13. 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.
      Link Goto Top
    14. 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.
      Link Goto Top
    15. Yamaguchi,T., Motulsky,A.G., and Deeb,S.S. Relationship between structure and the X-chromosome linked color vision genes and their levels of expression in human retinae. 1996; Invest.Ophthalmol.Vis.Sci. 37: S337 Goto Top
    16. 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.
      Link Goto Top
    Return to Retina International's Scientific Newsletter
    Return to Group page
    Return to pagehead