Disease Database Congenital Stationary Night Blindness

Recent update from: 05.03.2006

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

References

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.
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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. 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.
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4. 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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5. 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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6. 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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7. 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. Goto Top
   
8. 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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9. 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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10. 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. Goto Top
    
11. 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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12. 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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13. 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.
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14. Schwartz,M. and Rosenberg,T. Aland eye disease: linkage data. 1991; Genomics. 10: 327-332.
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15. 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
    
16. 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.
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17. 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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18. 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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19. 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.
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20. 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. Goto Top
    

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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