Abstract
Congenital stationary night blindness (CSNB) refers to a group of disorders in which patients have normal to near-normal vision under photopic conditions, reduced sensitivity under scotopic conditions, but no evidence of photoreceptor degeneration. Several subtypes of CSNB can be distinguished by fundus appearance, the inheritance pattern, electroretinogram (ERG) recording, the extent of cone involvement, and other measures of ocular function (Ripps, 1982; Miyake et al., 1986). CSNB can also be classified according to the underlying defect, which may involve the phototransduction cascade (Sieving et al., 1995; Dryja et al., 1996) or the communication between photoreceptor and bipolar cells (Ripps, 1982; Miyake, et al., 1986). The latter form of CSNB, often referred to as the Schubert-Bornschein (1952) type, is characterized by a ‘negative’ ERG under dark-adapted conditions, in which the amplitude of the ERG b-wave is drastically reduced. Because the a- and b-waves of the ERG reflect the mass response of the photoreceptors and the rod depolarizing bipolar cells (DBCs), respectively, (Robson & Frishman, 1998) the negative ERG waveform indicates a defect in communication between normally functioning rod photoreceptors and second order neurons. Miyake et al. (1986) subdivided this form of CSNB into complete (CSNB1) and incomplete (CSNB2) based on ERG waveforms, refractive error, and the extent of rod and cone pathway involvement.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Alexander, K.R., Fishman, G.A., Peachey, N.S., Marchese, A.L., and Tso, M.O.M., 1992, ‘On’ response defect in paraneoplastic night blindness with cutaneous malignant melanoma.Invest. Ophthalmol. Vis. Sci.33:477–483.
Bech-Hansen, N., Naylor, M.J., Maybaum, T.A., Sparkes, R.L., Koop, B., Birch, D.G., Bergen A.A.B., Prinsen, C.F.M., Polomeno, R.C., Gall, A., Drack, A.V., Musarella, M.A., Jacobson, S.G., Young, R.S.L., and Weleber, R.G., 2000, Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness,Nature Genetics 26: 319–323.
Bech-Hansen, N., Naylor, M.J., Maybaum, T.A., Pearce, W.G., Koop, B., Fishman, G.A., Mets, M., Musarella, M.A. & Boycott, K.M., 1998, Loss-of-function mutations in a calcium-channel α1-subunit gene in Xpl 1.23 cause incomplete X-linked congenital stationary night blindness,Nature Genetics 19:264–267.
Candille, S.I., Pardue, M.T., McCall, M.A., Peachey, N.S., and Gregg, R.G., 1999, Localization of the mouse nob (no b-wave) gene to the centromeric region of the X chromosome,Invest. Ophthalmol. Vis. Sci.40:2748–2751.
Dhingra, A., Lyubarsky, A., Jiang, M., Pugh, E.N., Jr., Birnbaumer, L., Sterling, P., and Vardi, N., 2000, The light response of ON bipolar neurons requires Gα0,J. Neurosci.20:9053–9058.
Dryja, T.P., Berson, E.L., Rao, V.R., and Oprian, D.D., 1993, Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness,Nature Genetics 4:280–283.
Dryja, T.P., Hahn, L.B., Reboul, T., and Arnaud, B.,1996, Missense mutation in the gene encoding the a subunit of rod transducin in the Nougaret form of congenital stationary night blindness,Nature Genetics 13:358–360.
Gray, E.G. and Pease, H.L., 1971, On understanding the organization of the retinal synapses,Brain Res.35:1–15.
Gregor P., Reeves, R.H., Jabs, E.W., Yang, X., Dackowski, W., Rochelle, J.M., Brown, R.H.J., Haines, J.L., O’Hara, B.F., and Uhl, G.R., 1993, Chromosomal localization of glutamate receptor genes: relationship to familial amyotrophic lateral sclerosis and other neurological disorders of mice and humans,Proc. Natl. Acad. Sci, U.S.A.90:3053–3057.
Huang, S.H., Pittler, S.J., Huang, X., Oliveira, L., Berson, E.L., and Dryja, T.P., 1995, Autosomal recessiveretinitis pigmentosa caused by mutations in the a subunit of rod cGMP phosphodiesterase,Nature Genetics11:468–471.
Jiang, M., Gold, M.S., Boulay, G., Spicher, K., Peyton, M., Brabet, P., Srinivasan, Y., Rudolph, U., Ellison, G.,and Birnbaumer, L., 1998, Multiple neurological abnormalities in mice deficient in the G protein G0,Proc. Natl. Acad. Sci.95:3269–3274.
Kato, M., Aonuma, H., Kawamura, H., Miura, Y., and Watanabe, I., 1987, Possible pathogenesis of congenital stationary night blindness,Jap. J. Ophthalmol.31:88–101.
Masu M., Iwakabe H., Tagawa Y., Miyoshi T., Yamashita M., Fukuda Y., Sasaki H., Hiroi K., Nakamura Y., Shigemoto R., Takada, M., Nakamura, K., Nakao, K., Katsuki, M. and Nakanishi, S., 1995, Specific deficit of the On response in visual transmission by targeted disruption of the mGluR6 gene,Cell 80:757–65.
Miyake, Y. Horiguchi, M., Terasaki, H. and Kondo, M., 1994, Scotopic threshold response in complete and incomplete types of congenital stationary night blindness,Invest. Ophthalmol. Vis. Sci 35:3770–3775.
Miyake, Y., Yagasaki, K., Horiguchi, M., and Kawase, Y., 1987, On- and off-response in photopic electroretinogram in complete and incomplete types of congenital stationary night blindness,Jpn. J. Ophthalmol.31:81–87.
Miyake, Y., Yagasaki, K., Horiguchi, M., Kawase, Y., and Kanda, T., 1986, Congenital stationary night blindness with negative electroretinogram: A new classification,Arch. Ophthalmol.104:1013–1016.
Molday, R.S., 1994, Peripherin/rds and rom-1: Molecular properties and role in photoreceptor cell degeneration,Progr. Ret. Eye Res.13:271–299.
Nawy, S. and Jahr, C.E., 1991, cGMP-gated conductance in retinal bipolar cells is suppressed by the photoreceptor transmitter,Neuron 7:677–683.
Oberdick, J., Smeyne, R.J., Mann, J.R., Zackson, S. and Morgan, J.I., 1990, A promoter that drives transgene expression in cerebellar purkinje and retinal bipolar neurons,Science 248:223–226.
Pardue, M.T., Ball, S.L., Blake, T.D., McCall, M.A., and Peachey, N.S., 2000, Functional and anatomical features of nob mice, ARVO abstracts,Invest. Ophthalmol. Vis. Sci.41:S202
Pardue, M.T., Candille, S., LaVail, M.M., Gregg, R.G., McCall, M.A. and Peachey, N.S., 1998, A potential mouse model of X-linked congenital stationary night blindness,Invest. Ophthalmol. Vis. Sci.39:2443–2449.
Peachey, N.S., Fishman, G.A., Derlacki, D.J. and Brigell, M.G., 1987, Psychophysical and electroretinographic findings in X-linked juvenile retinoschisis,Arch. Ophthalmol.105:513–516.
Phelan , J.K. and Bok, D., 2000, A brief review of retinitis pigmentosa and the identified retinitis pigmentosa genes.Mol. Vis.6:116–124.
Pusch, C.M., Zeitz, C., Brandu, 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., 2000, The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein,Nature Genetics 26:324–327.
Quigley, M., Roy, M.S., Barsoum-Homsy, M., Chevretter, L., Jacob, J.L., and Milot, J., 1996, On- and off-responses in the photopic electroretinogram in complete-type congenital stationary night blindness.Docum. Ophthamologica 92:159–165.
Reiser, M.A, Williams, T. P. and Pugh, E.N. Jr., 1996, The effect of light history on the aspartate-isolated fast PIII responses of the albino rat retina,Invest. Ophthalmol. Vis. Sci.37:221–229.
Ripps, H., 1982, Night blindness revisited; from man to molecules,Invest. Ophthalmol. Vis. Sci.23:588–609.
Robson, J.G. and Frishman, L.J., 1998, Dissecting the dark-adapted electroretinogram.Docum. Ophthalmologica 95:187–215.
Satoh, H., Aoki, K., Watanabe, S. and Kaneko, A., 1998, L-type calcium channels in the axon terminal of mouse bipolar cells,NeuroReport 9:2161–2165.
Schubert, G. and Bornschein, H., 1952, Beitrag zur analyse des menschlichen elektroretinogramms.Ophthalmologica 123:396–413.
Sieving, P.A., Richards, J.E., Naarendorp, F., Bingham, E.L., Scott, K. and Alpem, M.A., 1995, Dark-light: model of nightblindness from the human rhodopsin gly-90-asp mutation.Proc. Natl Acad. Sci, USA 92:880–884.
Strom, T.M., Nyakatura, G., Apfelstedt-Sylla, E., Hellebrand, H., Lorenz, B., Weber, B.H.F., Wutz, K., Gutwillinger, N., Ruther, K., Drescher, B., Sauer, C., Zrenner, E., Meitinger, T., Rosenthal, A., and Meindl, A., 1998, An L-type calcium-channel gene mutated in the incomplete X-linked congenital stationary night blindness,Nature Genetics 19:260–263.
Tremblay, F., DeBecker, I., Riddell, D.C., and Dooley, J.M., 1994, Duchenne muscular dystrophy: negative scotopic bright-flash electroretinogram and normal dark adaptation,Can. J. Ophthalmol.29:280–283.
Wachtmeister, L., 1998, Oscillatory potentials in the retina, What do they reveal,Prog. Retin. Eye Res.17:485–521.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2001 Springer Science+Business Media New York
About this chapter
Cite this chapter
Pardue, M.T., Ball, S.L., Candille, S.I., McCall, M.A., Gregg, R.G., Peachey, N.S. (2001). nob: A Mouse Model of CSNB1. In: Anderson, R.E., LaVail, M.M., Hollyfield, J.G. (eds) New Insights Into Retinal Degenerative Diseases. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-1355-1_34
Download citation
DOI: https://doi.org/10.1007/978-1-4615-1355-1_34
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4613-5513-7
Online ISBN: 978-1-4615-1355-1
eBook Packages: Springer Book Archive