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    This article has been cited by the following publications. This list is generated based on data provided by CrossRef.
    Gregory-Evans, Kevin Pennesi, Mark E. and Weleber, Richard G. 2013. Retina. p. 761.
    Rosenberg, Thomas and Parving, Agnete 2009. A syndrome with retinitis pigmentosa, progressive hearing impairment, vestibular dysfunction, and congenital cataract. Acta Ophthalmologica Scandinavica, Vol. 74, Issue. S219, p. 50.
    Nucci, Paolo and Mets, Marilyn B. 2009. Cataract, hearing loss and hypercholesterolemia. Acta Ophthalmologica, Vol. 68, Issue. 6, p. 739.
    Tamayo, Marta L. Bernal, Jaime E. Tamayo, Gustavo E. Frias, Jaime L. Alvira, Gustavo Vergara, Oscar Rodriguez, Vicente Uribe, Jose I. and Silva, Juan C. 2008. Usher syndrome: results of a screening program in Colombia. Clinical Genetics, Vol. 40, Issue. 4, p. 304.
    Humphries, Peter Farrar, G. Jane Kenna, Paul and McWilliam, Peter 2008. Retinitis pigmentosa: genetic mapping in X-linked and autosomal forms of the disease. Clinical Genetics, Vol. 38, Issue. 1, p. 1.
    Rosenberg, Thomas Haim, Marianne Hauch, Anne-Marie and Parving, Agnete 2008. The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations. Clinical Genetics, Vol. 51, Issue. 5, p. 314.
    Weleber, Richard G. and Gregory-Evans, Kevin 2006. Retina. p. 395.
    2005. Inherited Eye Diseases. p. 359.
    Tsilou, Ekaterini T. Rubin, Benjamin I. Caruso, Rafael C. Reed, George F. Pikus, Anita Hejtmancik, James F. Iwata, Fumino Redman, Joy B. and Kaiser-Kupfer, Muriel I. 2002. Usher syndrome clinical types I and II: Could ocular symptoms and signs differentiate between the two types?. Acta Ophthalmologica Scandinavica, Vol. 80, Issue. 2, p. 196.
    Waldeck, Tracy Wyszynski, Bernard and Medalia, Alice 2001. The Relationship between Usher's Syndrome and Psychosis with Capgras Syndrome. Psychiatry: Interpersonal and Biological Processes, Vol. 64, Issue. 3, p. 248.
    Magovcevic, Ivana Berson, Eliot L. and Morton, Cynthia C. 1996. Detection of cone alpha transducin mRNA in human fetal cochlea: negative mutation analysis in Usher syndrome. Hearing Research, Vol. 99, Issue. 1-2, p. 7.
    Smith, R. J. H. Berlin, C. I. Hejtmancik, J. F. Keats, B. J. B. Kimberling, W. J. Lewis, R. A. Möller, C. G. Pelias, M. Z. and Tranebjærǵ, L. 1994. Clinical diagnosis of the Usher syndromes. American Journal of Medical Genetics, Vol. 50, Issue. 1, p. 32.
    Smith, Richard J.H. Lee, Elizabeth C. Kimberling, William J. Daiger, Stephen P. Pelias, Mary Z. Keats, Bronya J.B. Jay, Marcelle Bird, Alan Reardon, William Guest, Mary Ayyagari, Radha and Fielding Hejtmancik, J. 1992. Localization of two genes for usher syndrome type I to chromosome 11. Genomics, Vol. 14, Issue. 4, p. 995.
    Berson, Eliot L. and Adamian, Michael 1992. Ultrastructural Findings in an Autopsy Eye From a Patient With Usher's Syndrome Type II. American Journal of Ophthalmology, Vol. 114, Issue. 6, p. 748.
    KIMBERLING, W. J. WESTON, M. D. DAHL, S. PIEKE KENYON, J. B. SHUGART, Y. Y. MOLLER, C. DAVENPORT, S. L. H. MARTINI, A. MILANI, M. and SMITH, R. J. 1991. Genetic Studies of Usher Syndrome. Annals of the New York Academy of Sciences, Vol. 630, Issue. 1 Genetics of H, p. 167.
    Lewis, Richard Alan Otterud, Brith Stauffer, Dora Lalouel, Jean-Marc and Leppert, Mark 1990. Mapping recessive ophthalmic diseases: Linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q. Genomics, Vol. 7, Issue. 2, p. 250.
    Kimberling, William J. Weston, Michael D. Möller, Claes Davenport, Sandra L.H. Shugart, Yin Y. Priluck, Ira A. Martini, Alessandro Milani, Massimo and Smith, Richard J. 1990. Localization of Usher syndrome type II to chromosome 1q. Genomics, Vol. 7, Issue. 2, p. 245.
    Karjalainen, Seppo Pakarinen, Leena Kääriäinen, Helena Teräsvirta, Markku and Vartiainen, Eero 1989. Progressive Hearing Loss in Usher's Syndrome. Annals of Otology, Rhinology & Laryngology, Vol. 98, Issue. 11, p. 863.
    Meyer, Dianne H. Piazza, Lawrence and Fishman, Gerald A. 1989. Evaluation of Pure Tone and Speech Discrimination Changes in Usher's Syndrome. Annals of Otology, Rhinology & Laryngology, Vol. 98, Issue. 5, p. 364.
    Pagon, Roberta A. 1988. Retinitis pigmentosa. Survey of Ophthalmology, Vol. 33, Issue. 3, p. 137.
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Usher's and Hallgren's Syndromes

  • S. Merin (a1), F. A. Abraham (a1) and E. Auerbach (a1)
Abstract

A study has been made of 35 patients belonging to 20 families, all diagnosed as Usher's syndrome (retinitis pigmentosa and deafness). The results indicate that there are four clinical types, which have been called Types I to IV. Genetically, they represent at least two, and possibly three or four, separate entities.

Copyright
COPYRIGHT: © The International Society for Twin Studies 1974
Corresponding author
Department of Ophthalmology, Hadassah University Hospital, P.O. Box 499, Jerusalem, Israel
References
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Amman, F., Klein, D., Franceschetti, A. 1965. Genetic and epidemiological investigations on pigmentary degeneration of the retina and allied disorders in Switzerland. J. Neurol. Sci., 2: 183–196.
Bell, J. 1933. Retinitis pigmentosa and allied diseases. In: The Treasury of Human Inheritance. [Vol. II, p. 1]. London: Cambridge University Press.
De Haas, E.B.H., van Lith, G.H.M., Rijnders, J., Rumke, A.M.L., Volmer, Ch. 1970. Usher's syndrome. With special reference to heterozygous manifestations. Doc. Ophthalmol., 28: 166–190.
Forsius, H., Eriksson, A., Nuutila, A., Vainio-Mattila, B., Krause, U. 1971. A genetic study of three rare retinal disorders: dystrophia retinae dysacusis syndrome, X-chromosomal retinoschisis and grouped pigments of the retina. Birth Defects, 8: 83–98.
Hallgren, B. 1959. Retinitis pigmentosa combined with congenital deafness; with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases. A clinical and genetico-statistical study. Acta Psychiatr. Scand. [Suppl.], 138: 5–101.
Kapuscinski, W.J., Uher, M., Ogielska, E. 1969. Syndrome d'Usher, description de trois cas. Bull. Mem. Soc. Fr. Ophtalmol., 82: 147–154.
Karel, I., Sedlackova, E. 1967. Audiometric and phoniatric findings in congenital diffuse tapetoretinal degeneration. Acta Ophtalmol., 45: 42–48.
Kloepfer, H.W., Laguaite, J.K., McLaurin, J.W. 1966. The hereditary syndrome of congenital deafness and retinitis pigmentosa (Usher's syndrome). Laryngoscope, 76: 850–862.
Lindenov, H. 1945. The etiology of deaf-mutism, with special reference to heredity. Op. Ex. Domo Biol. Hered. Hum., Univ. Hafniensis, 8: 1–268.
McLeod, A.C., McConnell, F.E., Sweeney, A., Cooper, M.C., Nance, W.E. 1971. Clinical variation in Usher's syndrome. Arch. Otolaryngol., 94: 321–334.
Montandon, A., Franceschetti, A., Klein, D. 1957. Alternance phénotypique d'une hérédo-dégénérescence des voies cochléo-vestibulaires avec une dégénérescence tapéto-rétinienne. Confin. Neurol., 17: 1–9.
Nuutila, A. 1967. Retinitis pigmentosa-dysacusis syndrome. Preliminary report. Acta Psychiatr. Scand. [Suppl.], 43: 68–69.
Nuutila, A. 1970. Dystrophia retinae pigmentosadysacusis syndrome (DRD): a study of the Usher or Hallgren syndrome. J. Genet. Hum., 18: 57–88.
Toivakka, E., Nuutila, A. 1967. EEG findings in retinitis pigmentosa-dysacusis syndrome. Acta Psychiatr. Scand. [Suppl.], 43: 70–71.
Usher, C.H. 1914. On the inheritance of retinitis pigmentosa; with notes of cases. R. Lond. Ophthalmol. Hosp. Rep., 19: 130, 236.
Vernon, M. 1969. Usher's syndrome: deafness and progressive blindness. Clinical cases, prevention, theory and literature survey. J. Chronic Dis., 22: 133–151.
Von Graefe, A. 1858. Exceptionelles Verhalten des Gesichtsfeldes bei Pigmententartung der Netshaut. von Graefe's Arch. Ophthalmol., 4: 250–253.
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Acta geneticae medicae et gemellologiae: twin research
  • ISSN: 0001-5660
  • EISSN: 2059-6324
  • URL: /core/journals/amg-acta-geneticae-medicae-et-gemellologiae-twin-research
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