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Graefe-Sjögren syndrome (Karl Gustaf Torsten Sjögren)

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A syndrome combining retinitis pigmentosa, spinocerebellar ataxia and deafness. Sometimes associated with congenital cataracts and mental retardation syndrome. It is a familial condition inherited as an autosomal recessive trait.

According to Sjögren, the syndrome consists of spinocerebellar ataxia, congenital cataract, and mental retardation; according to Hallgren, it is an association of retinitis pigmentosa, congenital deafmutism, and vestibulocerebellar ataxia with cataract and mental disorders.

von Graefe in 1858 described the combined occurrence of retinitis pigmentosa and congenital hearing impairment. Sjögren in 1950 completed the symptomatics of the syndrome with the observation of vestibulo-cerebellar disturbances, mental defects and bodily malformations. There is some controversy concerning the syndromic boundaries of this condition, as Sjögren excluded retinitis pigmentosa, while Hallgren insisted upon the additional features of mental retardation and cataracts. For these reasons the condition is generally known by von Graefe's eponym with the addition of the names of either Hallgren or Sjögren.


  • A. von Graefe:
    Exceptionelles Verhalten des Gesichtsfeldes bei Pigmententartung der Netzhaut.
    [Albrecht von Graefe’s] Archiv für Ophtalmologie, Berlin, 1858, 4: 250-253.
  • H. Lindenov:
    The etiology of deaf-mutism, with special reference to heredity. Doctoral thesis.
    Opera ex Domo Biologiae Hereditariae Humanae Universitatis, 1945, 8: 1-268.
    Published by E. Munksgaard, Copenhagen.
  • T. Sjögren:
    Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia. A genetic and clinical investigation.
    Confinia Neurologica, Basel, 1950, 10: 293-308.
  • B. Hallgren:
    Retinitis pigmentosa in combination with congenital deafness and vestibulo-cerebellar ataxia; with psychiatric abnormality in some cases. A clinical and genetic study.
    Acta genetica et statistica medica, Basel,1958, 8: 97-104. 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 Psychiatrica Scandinavica, Copenhagen, 1959, 34 (supplement 138): 1-97.
We thank Andre Trombeta for information submitted.

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