ERG Findings in Two Patients with Autosomal Dominant Congenital Stationary Night Blindness and His258Asn Mutation of the β-Subunit of Rod Photoreceptor CGMP-Specific Phosphodiesterase

  • T. Rosenberg
  • A. Gal
  • S. E. Simonsen


Recently, a missense mutation (His258Asn) has been identified in the β-subunit of rod cGMP-specific phosphodiesterase in a large multigeneration Danish family, in which autosomal dominant congenital stationary night blindness (adCSNB) is segregating. The mutation was shown to cosegregate with the disease phenotype. Here we report the ERG findings obtained on night blind members of two additional Danish families carrying an identical mutation. Electrophysiological findings are consistent with the hypothetical pathomechanism of a light-independent hyperpolarization of rod photoreceptors in CSNB. Variable expression of the mutation may account for individual differences in residual scotopic rod activity. Reports on impaired electroretinographic cone activity in cases of adCSNB might indicate genetic heterogeneity in adCSNB.


Retinitis Pigmentosa Dark Adaptation Implicit Time Retinal Dystrophy Flash Intensity 
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  1. 1.
    Schubert, G., and Bornschein, H., 1952, Beitrag zur Analyse des menschlichen Eletroretinogramms, Ophthalmologica 123:396–411.PubMedCrossRefGoogle Scholar
  2. 2.
    Riggs,L.A., 1954, Electroretinography in cases of night blindness, Am. J. Ophthalmol. 38:70–78.PubMedCrossRefGoogle Scholar
  3. 3.
    Armington, J.C., and Schwab, G.J., 1954, Electroretinogram in nyctalopia, Arch. Ophthalmol. 52:725–733.CrossRefGoogle Scholar
  4. 4.
    Auerbach, E., Godel, V, and Rowe, H., 1969, An electrophysiological and psychophysical study of two forms of congenital night blindness, Invest. Ophthalmol. Vis. Sci. 8:332–345.Google Scholar
  5. 5.
    Carr, R.E., Ripps, H., Siegel, I.M., and Weale, R.A., 1966, Visual functions in congenital night blindness, Invest. Ophthalmol. Vis. Sci. 5:508–514.Google Scholar
  6. 6.
    Miyake, Y., Yagasaki, K., Horiguchi, M., Kawase, Y, and Kanda, T., 1986, Congenital stationary night blindness with negative electroretinogram. A new classification, Arch. Ophthalmol. 104:1013–1020.PubMedCrossRefGoogle Scholar
  7. 7.
    Carroll, F.D., and Haig, C, 1952, Congenital stationary night blindness without ophthalmoscopic or other abnormalities, Trans. Am. Ophthalmol. Soc. 50:193–209.PubMedCentralPubMedGoogle Scholar
  8. 8.
    Francois, J., Verriest, G., de Rouck, A., and Dejean, C, 1956, Les fonctions visuelles dans l’hemeralopie essentielle nougarienne, Ophthalmologica 132:244–257.PubMedCrossRefGoogle Scholar
  9. 9.
    Cunier, M.F., 1838, Histoire d’une hemeralopie hereditaire depuix deux siècle dans une famille de la commune de Vendémian, près Montpellier, Ann. Soc. Med. de Gand 4:383–395.Google Scholar
  10. 10.
    Rambusch, S.H.A., 1909, Den medfodte Natteblindheds Arvelighedsforhold. Oversigt over det Kgl. Danske Videnskabernes Selskabs Forhandlinger 3:337–347.Google Scholar
  11. 11.
    Rosenberg, T., Haim, M., Piczenik, Y, and Simonsen, S.E., 1991, Autosomal dominant stationary night-blindness. A large family rediscovered, Acta Ophthalmol. (Copenh.) 69:694–702.CrossRefGoogle Scholar
  12. 12.
    Gal, A., Orth, U., Baehr, W., Schwinger, E., and Rosenberg, T., 1994, Heterozygous missense mutation in the rod cGMP phosphodiesterase β-subunit gene in autosomal dominant stationary night blindness, Nature Genet. 7:64–68.PubMedCrossRefGoogle Scholar
  13. 13.
    Veske, A., Orth, U., Rüther, K., Zrenner, E., Rosenberg, T., Baehr, W. and Gal, A., 1995, Mutations in the gene for the β-subunit of photoreceptor-specific cGMP phosphodiesterase in patients with retinal dystrophies and dysfunctions. This volume.Google Scholar
  14. 14.
    Nagata, M., 1963, Studies on the photopic ERG of the human retina. Jpn. J. Ophthalmol. 7:96–124.Google Scholar
  15. 15.
    McLaughlin, M.E., Sandberg, M.A., Berson, E.L., and Dryja, T.P., 1993, Recessive mutations in the gene encoding the β-subunit of rod phosphodiesterase in patients with retinitis pigmentosa, Nature Genet. 4:130–134.PubMedCrossRefGoogle Scholar
  16. 16.
    Alpern, M., Holland, M.G., and Ohba, N., 1972, Rhodopsin bleaching signals in essential night blindness, J. Physiol. 225:457–476.PubMedCentralPubMedCrossRefGoogle Scholar
  17. 17.
    Ripps, H., 1982, Night blindness revisited: from man to molecules, Invest. Ophthalmol. Vis. Sci. 23:588–609.PubMedGoogle Scholar
  18. 18.
    Sharp, D.M., Arden, G.B., Kemp, M., Hoog, C.R., and Bird,A.C, 1990, Mechanisms and sites of loss of scotopic sensitivity: a clinical analysis of congenital stationary night blindness, Clin. Vis. Sci. 5:217–230.Google Scholar
  19. 19.
    Noble, K.G., Carr, R.E., and Siegel, I.M., 1990, Autosomal dominant congenital stationary night blindness and normal fundus with an electronegative electroretinogram, Am. J. Ophthalmol. 109:44–48.PubMedCrossRefGoogle Scholar
  20. 20.
    Francois, J., Verriest, G., and de Rouck, A., 1963, Une nouvelle observation d’hemeralopie congénitale essentielle à transmission dominante, Bull. Soc. Belge Ophthalmol. 135:489–497.Google Scholar
  21. 21.
    Berson, E.L., Gouras, P., and Hoff, M., 1969, Temporal aspects of the electroretinogram, Arch. Ophthalmol. 81:207–214.PubMedCrossRefGoogle Scholar
  22. 22.
    Ponte, E., Lodato, G., and Lauricella, M., 1974, Electrophysiological tests in congenital stationary night-blindness with regard to the different types of inheritance, Doc. Ophthalmol. Proc. Ser. 10:161–167.CrossRefGoogle Scholar
  23. 23.
    Keunen, J.E.E., van Meel, G.J., and van Norren, D., 1988, Rod densitometry in night blindness: a review and two puzzling cases, Doc. Ophthalmol. 68: 375–387. 24.PubMedCrossRefGoogle Scholar
  24. 24.
    Krill, A.E., and Martin, D., 1971, Photopic abnormalities in congenital stationary nightblindness, Invest. Ophthalmol. Vis. Sci. 10:625–636.Google Scholar

Copyright information

© Springer Science+Business Media New York 1995

Authors and Affiliations

  • T. Rosenberg
    • 1
  • A. Gal
    • 2
  • S. E. Simonsen
    • 1
  1. 1.National Eye Clinic for the Visually ImpairedHellerupDenmark
  2. 2.Institut für HumangenetikUniversitäts-Krankenhaus EppendorfHamburgGermany

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