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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Night Blindness

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Disease relevance of Night Blindness


Psychiatry related information on Night Blindness


High impact information on Night Blindness

  • Here we have studied 22 families with 'complete' X-linked CSNB (CSNB1; MIM 310500; ref. 4) in which affected males have night blindness, some photopic vision loss and a defect of the ON-pathway [7].
  • The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein [8].
  • Our results suggest that mutant alleles in RDH5 are a cause of fundus albipunctatus, a rare form of stationary night blindness characterized by a delay in the regeneration of cone and rod photopigments [9].
  • RP is characterized by night blindness and progressive degeneration of the midperipheral retina, accompanied by bone spicule-like pigmentary deposits and a reduced or absent electroretinogram (ERG) [10].
  • Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness [11].

Chemical compound and disease context of Night Blindness


Biological context of Night Blindness


Anatomical context of Night Blindness


Gene context of Night Blindness

  • Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness [25].
  • CONCLUSIONS: We found that ESCS, GFS, and CPRD can all have the same genetic basis.Clinical Relevance The combination of night blindness, hyperopia, and clumped retinal pigment deposits should raise the suspicion that a patient has NR2E3 disease [26].
  • RP causes night blindness, a gradual loss of peripheral visual fields, and eventual loss of central vision [27].
  • Overall, our cohort of LCA carriers did not describe significant subjective visual difficulties, including nyctalopia and/or photosensitivity [28].
  • Electroretinograms (ERGs) in the adult Bhlhb4 knockout (Bhlhb4(-/-)) showed that the loss of Bhlhb4 resulted in disrupted rod signaling and profound retinal dysfunction resembling human congenital stationary night blindness (CSNB), characterized by the loss of the scotopic ERG b-wave [29].

Analytical, diagnostic and therapeutic context of Night Blindness


  1. A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa. Meindl, A., Carvalho, M.R., Herrmann, K., Lorenz, B., Achatz, H., Lorenz, B., Apfelstedt-Sylla, E., Wittwer, B., Ross, M., Meitinger, T. Hum. Mol. Genet. (1995) [Pubmed]
  2. Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus. Lidén, M., Romert, A., Tryggvason, K., Persson, B., Eriksson, U. J. Biol. Chem. (2001) [Pubmed]
  3. A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness. al-Jandal, N., Farrar, G.J., Kiang, A.S., Humphries, M.M., Bannon, N., Findlay, J.B., Humphries, P., Kenna, P.F. Hum. Mutat. (1999) [Pubmed]
  4. Recommendations for indicators: night blindness during pregnancy--a simple tool to assess vitamin A deficiency in a population. Christian, P. J. Nutr. (2002) [Pubmed]
  5. Mapping recessive ophthalmic diseases: linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q. Lewis, R.A., Otterud, B., Stauffer, D., Lalouel, J.M., Leppert, M. Genomics (1990) [Pubmed]
  6. Dystrophin expression in the hair cells of the cochlea. Dodson, H.C., Piper, T.A., Clarke, J.D., Quinlivan, R.M., Dickson, G. J. Neurocytol. (1995) [Pubmed]
  7. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. 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., Weleber, R.G. Nat. Genet. (2000) [Pubmed]
  8. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. 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., Meindl, A. Nat. Genet. (2000) [Pubmed]
  9. Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. Yamamoto, H., Simon, A., Eriksson, U., Harris, E., Berson, E.L., Dryja, T.P. Nat. Genet. (1999) [Pubmed]
  10. Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa. Sullivan, L.S., Heckenlively, J.R., Bowne, S.J., Zuo, J., Hide, W.A., Gal, A., Denton, M., Inglehearn, C.F., Blanton, S.H., Daiger, S.P. Nat. Genet. (1999) [Pubmed]
  11. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. Bech-Hansen, N.T., Naylor, M.J., Maybaum, T.A., Pearce, W.G., Koop, B., Fishman, G.A., Mets, M., Musarella, M.A., Boycott, K.M. Nat. Genet. (1998) [Pubmed]
  12. Night blindness in Sorsby's fundus dystrophy reversed by vitamin A. Jacobson, S.G., Cideciyan, A.V., Regunath, G., Rodriguez, F.J., Vandenburgh, K., Sheffield, V.C., Stone, E.M. Nat. Genet. (1995) [Pubmed]
  13. Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness. Rao, V.R., Cohen, G.B., Oprian, D.D. Nature (1994) [Pubmed]
  14. Inhibition of the visual cycle in vivo by 13-cis retinoic acid protects from light damage and provides a mechanism for night blindness in isotretinoin therapy. Sieving, P.A., Chaudhry, P., Kondo, M., Provenzano, M., Wu, D., Carlson, T.J., Bush, R.A., Thompson, D.A. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  15. Effects of pharmacological retinoids on several vitamin A-metabolizing enzymes. Dew, S.E., Wardlaw, S.A., Ong, D.E. Cancer Res. (1993) [Pubmed]
  16. Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. Yamamoto, S., Sippel, K.C., Berson, E.L., Dryja, T.P. Nat. Genet. (1997) [Pubmed]
  17. Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness. Dryja, T.P., Hahn, L.B., Reboul, T., Arnaud, B. Nat. Genet. (1996) [Pubmed]
  18. Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis. Sheffield, V.C., Fishman, G.A., Beck, J.S., Kimura, A.E., Stone, E.M. Am. J. Hum. Genet. (1991) [Pubmed]
  19. Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: demonstration of homozygosity. Bech-Hansen, N.T., Pearce, W.G. Am. J. Hum. Genet. (1993) [Pubmed]
  20. Biochemical evidence for pathogenicity of rhodopsin kinase mutations correlated with the oguchi form of congenital stationary night blindness. Khani, S.C., Nielsen, L., Vogt, T.M. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  21. Ocular abnormalities occurring with vitiligo. Albert, D.M., Nordlund, J.J., Lerner, A.B. Ophthalmology (1979) [Pubmed]
  22. Extent of vitamin A deficiency among preschool children and women of reproductive age. West, K.P. J. Nutr. (2002) [Pubmed]
  23. Melanoma-associated paraneoplastic retinopathy: case report and review of the literature. Boeck, K., Hofmann, S., Klopfer, M., Ian, U., Schmidt, T., Engst, R., Thirkill, C.E., Ring, J. Br. J. Dermatol. (1997) [Pubmed]
  24. Molecular markers near two mouse chromosome 13 genes, muted and pearl, which cause platelet storage pool deficiency (SPD). O'Brien, E.P., Novak, E.K., Zhen, L., Manly, K.F., Stephenson, D., Swank, R.T. Mamm. Genome (1995) [Pubmed]
  25. Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness. Zeitz, C., Minotti, R., Feil, S., Mátyás, G., Cremers, F.P., Hoyng, C.B., Berger, W. Mol. Vis. (2005) [Pubmed]
  26. Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. Sharon, D., Sandberg, M.A., Caruso, R.C., Berson, E.L., Dryja, T.P. Arch. Ophthalmol. (2003) [Pubmed]
  27. Update on the molecular genetics of retinitis pigmentosa. Wang, Q., Chen, Q., Zhao, K., Wang, L., Wang, L., Traboulsi, E.I. Ophthalmic Genet. (2001) [Pubmed]
  28. Clinical phenotypes in carriers of Leber congenital amaurosis mutations. Galvin, J.A., Fishman, G.A., Stone, E.M., Koenekoop, R.K. Ophthalmology (2005) [Pubmed]
  29. The transcription factor Bhlhb4 is required for rod bipolar cell maturation. Bramblett, D.E., Pennesi, M.E., Wu, S.M., Tsai, M.J. Neuron (2004) [Pubmed]
  30. The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness. Feng, L., Seymour, A.B., Jiang, S., To, A., Peden, A.A., Novak, E.K., Zhen, L., Rusiniak, M.E., Eicher, E.M., Robinson, M.S., Gorin, M.B., Swank, R.T. Hum. Mol. Genet. (1999) [Pubmed]
  31. Retinopathy following jejunoileal bypass surgery: report of a case. Yarborough, G.W., Wilson, F.A., Feman, S., Charles, S., Chytil, F., O'Leary, J.P. International journal of obesity. (1982) [Pubmed]
  32. Paradoxical pupillary responses in congenital stationary night blindness. Barricks, M.E., Flynn, J.T., Kushner, B.J. Arch. Ophthalmol. (1977) [Pubmed]
  33. Ocular complications of hypovitaminosis a after bariatric surgery. Lee, W.B., Hamilton, S.M., Harris, J.P., Schwab, I.R. Ophthalmology (2005) [Pubmed]
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