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Disease Database

Congenital Stationary Nightblindness

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
Aland Island eye disease AIED, OA2 300600 CACNA1F 300110 xl Xp21.1-11.22

cen- DXS14- DXS255- PFC- DXS426- TIMP- OATL1- (AIED)- DXS228- DXS7- MAOA- RC12- DMD
  • Possibly allelic to CSNB2
  • Female carriers are normal on clinical and electrophysiological examination
  • No macromelanosomes
  • Schubert-Bornschein ERG
  • Link(2)
    xl with myopia, complete CSNB1 / 4 310500 NYX 300278 xl Xp11.3

    DXS556- DXS8028
    DXS426, TIMP

    xl, type 2, incomplete CSNB2 300071 CACNA1F 300110 xl Xp11.23

    DXS722- DXS255- DXS8023
    ad, type 3 CSNB3 163500 PDE6B 180072 ad 4p16.3

    ad, rhodopsin type CSNB 163500 RHO 180380 ad 3q21-24

    Oguchi disease CSNB 258100 SAG 181031 ar 2q37

    ad, Nougaret type CSNB 163500 GNAT1 139330 ad 3p22

    Oguchi disease CSNB 258100 GRK1 180381 ar 13q34

    autosomal dominant adCSNB 257270 GRM6 604096 ad 5q35

    complete, autosomal recessive CSNB1B 257270 GRM6 604096 ar 5q35

    Congenital stationary night blindness CSNB1C 613216 TPRM1 603576 ar 15q13-q14

    incomplete, autosomal recessive CSNB2B 610427 CABP4 608965 ar 11q13.1

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


    1. Aldred,M.A., Dry,K.L., Sharp,D.M., van Dorp,D.B., Brown,J., Hardwick,L.J., Lester,D.H., Pryde,F.E., Teague,P.W., and Jay,M. Linkage analysis in X-linked congenital stationary night blindness. 1992; Genomics. 14: 99-104.
      Link Goto Top
    2. Alitalo,T., Kruse,T.A., Forsius,H., Eriksson,A.W., and de la Chapelle,A. Localization of the Aland Island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis. 1991; Am.J.Hum.Genet. 48: 31-38.
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    3. Audo,I., Kohl,S., Leroy,B.P., Munier,F.L., Guillonneau,X., Mohand-Said,S., Bujakowska,K., Nandrot,E.F., Lorenz,B., Preising,M., Kellner,U., Renner,A.B., Bernd,A., Antonio,A., Moskova-Doumanova,V., Lancelot,M.E., Poloschek,C.M., Drumare,I., foort-Dhellemmes,S., Wissinger,B., Leveillard,T., Hamel,C.P., Schorderet,D.F., De,B.E., Berger,W., Jacobson,S.G., Zrenner,E., Sahel,J.A., Bhattacharya,S.S., and Zeitz,C. TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. 2009; Am.J.Hum.Genet. 85: 720-729.
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    4. Bech-Hansen,N.T., Boycott,K.M., Gratton,K.J., Ross,D.A., Field,L.L., and Pearce,W.G. Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23. 1998; Hum.Genet. 103: 124-130.
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    5. Bech-Hansen,N.T., Naylor,M.J., Maybaum,T.A., Pearce,W.G., Koop,B., Fishman,G.A., Mets,M., Musarella,M.A., and Boycott,K.M. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. 1998; Nat.Genet. 19: 264-267.
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    6. Bech-Hansen,N.T., Naylor,M.J., Maybaum,T.A., Sparkes,R.L., Koop,B., Birch,D.G., Bergen,A.A., Prinsen,C.F., Polomeno,R.C., Gal,A., Drack,A.V., Musarella,M.A., Jacobson,S.G., Young,R.S., and Weleber,R.G. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. 2000; Nat.Genet. 26: 319-323.
      Link Goto Top
    7. Dryja,T.P., Berson,E.L., Rao,V.R., and Oprian,D.D. Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. 1993; Nat.Genet. 4: 280-283.
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    8. Dryja,T.P., Hahn,L.B., Reboul,T., and Arnaud,B. Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness. 1996; Nat.Genet. 13: 358-360.
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    9. Dryja,T.P., McGee,T.L., Berson,E.L., Fishman,G.A., Sandberg,M.A., Alexander,K.R., Derlacki,D.J., and Rajagopalan,A.S. Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6. 2005; Proc.Natl.Acad.Sci.U.S.A. 102: 4884-4889.
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    10. Fuchs,S., Nakazawa,M., Maw,M., Tamai,M., Oguchi,Y., and Gal,A. A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. 1995; Nat.Genet. 10: 360-362.
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    11. Gal,A., Orth,U., Baehr,W., Schwinger,E., and Rosenberg,T. Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. 1994; Nat.Genet. 7: 551
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    12. Glass,I.A., Good,P., Coleman,M.P., Fullwood,P., Giles,M.G., Lindsay,S., Nemeth,A.H., Davies,K.E., Willshaw,H.A., and Fielder,A. Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome. 1993; J.Med.Genet. 30: 1044-1050.
      Link Goto Top
    13. Jalkanen,R., Bech-Hansen,N.T., Tobias,R., Sankila,E.M., Mantyjarvi,M., Forsius,H., de la,C.A., and Alitalo,T. A Novel CACNA1F Gene Mutation Causes Aland Island Eye Disease. 2007; Invest Ophthalmol.Vis.Sci. 48: 2498-2502.
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    14. Li,Z., Sergouniotis,P.I., Michaelides,M., Mackay,D.S., Wright,G.A., Devery,S., Moore,A.T., Holder,G.E., Robson,A.G., and Webster,A.R. Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans. 2009; Am.J.Hum.Genet. 85: 711-719.
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    15. Musarella,M.A., Weleber,R.G., Murphey,W.H., Young,R.S., Anson Cartwright,L., Mets,M., Kraft,S.P., Polemeno,R., Litt,M., and Worton,R.G. Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3. 1989; Genomics. 5: 727-737.
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    16. Pusch,C.M., Zeitz,C., Brandau,O., Pesch,K., Achatz,H., Feil,S., Scharfe,C., Maurer,J., Jacobi,F.K., Pinckers,A., Andreasson,S., Hardcastle,A., Wissinger,B., Berger,W., and Meindl,A. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. 2000; Nat.Genet. 26: 324-327.
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    17. Rao,V.R., Cohen,G.B., and Oprian,D.D. Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness. 1994; Nature. 367: 639-642.
      Link Goto Top
    18. Schwartz,M. and Rosenberg,T. Aland eye disease: linkage data. 1991; Genomics. 10: 327-332.
      Link Goto Top
    19. Sieving,P.A., Richards,J.E., Bingham,E.L., and Naarendorp,F. Dominant congenital complete nyctalopia and Gly-90-Asp rhodopsin mutation. 1992; Invest.Ophthalmol.Vis.Sci. 33 (Suppl.): 1397 Goto Top
    20. Strom,T.M., Nyakatura,G., Apfelstedt-Sylla,E., Hellebrand,H., Lorenz,B., Weber,B.H., Wutz,K., Gutwillinger,N., Ruther,K., Drescher,B., Sauer,C., Zrenner,E., Meitinger,T., Rosenthal,A., and Meindl,A. An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. 1998; Nat.Genet. 19: 260-263.
      Link Goto Top
    21. van Genderen,M.M., Bijveld,M.M., Claassen,Y.B., Florijn,R.J., Pearring,J.N., Meire,F.M., Mccall,M.A., Riemslag,F.C., Gregg,R.G., Bergen,A.A., and Kamermans,M. Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. 2009; Am.J.Hum.Genet. 85: 730-736.
      Link Goto Top
    22. Weber,B., Riess,O., Daneshvar,H., Graham,R., and Hayden,M.R. (CA)n-dinucleotide repeat at the PDEB locus in 4p16.3. 1993; Hum.Mol.Genet. 2: 827
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    23. Weber,J.L. and May,P.E. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. 1989; Am.J.Hum.Genet. 44: 388-396.
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    24. Yamamoto,S., Sippel,K.C., Berson,E.L., and Dryja,T.P. Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. 1997; Nat.Genet. 15: 175-178.
      Link Goto Top
    25. Zeitz,C., Kloeckener-Gruissem,B., Forster,U., Kohl,S., Magyar,I., Wissinger,B., Matyas,G., Borruat,F.X., Schorderet,D.F., Zrenner,E., Munier,F.L., and Berger,W. Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. 2006; Am.J.Hum.Genet. 79: 657-667.
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    26. Zeitz,C., van Genderen,M., Neidhardt,J., Luhmann,U.F., Hoeben,F., Forster,U., Wycisk,K., Matyas,G., Hoyng,C.B., Riemslag,F., Meire,F., Cremers,F.P., and Berger,W. Mutations in GRM6 Cause Autosomal Recessive Congenital Stationary Night Blindness with a Distinctive Scotopic 15-Hz Flicker Electroretinogram. 2005; Invest Ophthalmol.Vis.Sci. 46: 4328-4335.
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