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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

References

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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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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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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.
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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.
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18. Schwartz,M. and Rosenberg,T. Aland eye disease: linkage data. 1991; Genomics. 10: 327-332.
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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.
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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.
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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.
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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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