Hostname: page-component-6bf8c574d5-qdpjg Total loading time: 0 Render date: 2025-02-14T16:14:01.074Z Has data issue: false hasContentIssue false
  • English
  • Français

Usher's and Hallgren's Syndromes

Published online by Cambridge University Press:  01 August 2014

S. Merin ,
F. A. Abraham  and
E. Auerbach
S. Merin*
Affiliation:
Department of Ophthalmology and the Vision Research Laboratory, Hadassah University Hospital, Jerusalem, Israel
F. A. Abraham
Affiliation:
Department of Ophthalmology and the Vision Research Laboratory, Hadassah University Hospital, Jerusalem, Israel
E. Auerbach
Affiliation:
Department of Ophthalmology and the Vision Research Laboratory, Hadassah University Hospital, Jerusalem, Israel
*
Department of Ophthalmology, Hadassah University Hospital, P.O. Box 499, Jerusalem, Israel

Abstract

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

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.

Type
1. Tapetoretinal Degenerations and CNS Genetic Disease
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 23 , supplement S1 , January 1974 , pp. 49 - 55
Copyright
Copyright © The International Society for Twin Studies 1974

References

REFERENCES

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.CrossRefGoogle Scholar
Bell, J. 1933. Retinitis pigmentosa and allied diseases. In: The Treasury of Human Inheritance. [Vol. II, p. 1]. London: Cambridge University Press.Google Scholar
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.CrossRefGoogle ScholarPubMed
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.Google Scholar
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.Google Scholar
Kapuscinski, W.J., Uher, M., Ogielska, E. 1969. Syndrome d'Usher, description de trois cas. Bull. Mem. Soc. Fr. Ophtalmol., 82: 147–154.Google Scholar
Karel, I., Sedlackova, E. 1967. Audiometric and phoniatric findings in congenital diffuse tapetoretinal degeneration. Acta Ophtalmol., 45: 42–48.CrossRefGoogle ScholarPubMed
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.CrossRefGoogle ScholarPubMed
Lindenov, H. 1945. The etiology of deaf-mutism, with special reference to heredity. Op. Ex. Domo Biol. Hered. Hum., Univ. Hafniensis, 8: 1–268.Google Scholar
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.CrossRefGoogle ScholarPubMed
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.CrossRefGoogle Scholar
Nuutila, A. 1967. Retinitis pigmentosa-dysacusis syndrome. Preliminary report. Acta Psychiatr. Scand. [Suppl.], 43: 68–69.Google Scholar
Nuutila, A. 1970. Dystrophia retinae pigmentosadysacusis syndrome (DRD): a study of the Usher or Hallgren syndrome. J. Genet. Hum., 18: 57–88.Google ScholarPubMed
Toivakka, E., Nuutila, A. 1967. EEG findings in retinitis pigmentosa-dysacusis syndrome. Acta Psychiatr. Scand. [Suppl.], 43: 70–71.Google ScholarPubMed
Usher, C.H. 1914. On the inheritance of retinitis pigmentosa; with notes of cases. R. Lond. Ophthalmol. Hosp. Rep., 19: 130, 236.Google Scholar
Vernon, M. 1969. Usher's syndrome: deafness and progressive blindness. Clinical cases, prevention, theory and literature survey. J. Chronic Dis., 22: 133–151.CrossRefGoogle ScholarPubMed
Von Graefe, A. 1858. Exceptionelles Verhalten des Gesichtsfeldes bei Pigmententartung der Netshaut. von Graefe's Arch. Ophthalmol., 4: 250–253.Google Scholar