Usher's syndrome

Alternative eponyms

Synonyms

Dystrophia retinae pigmentosa-dysacusic syndrome, hereditary deafness-retinitis pigmentosa syndrome, retinitis pigmentosa-congenital deafness syndrome, retinitis pigmentosa-deafness syndrome.

Related people

An autosomal recessive disease characterized by retinitis pigmentosa and sensorineural deafness.

Description

An autosomal recessive disease characterized by retinitis pigmentosa and sensorineural deafness. It occurs in two types.
Type I: Congenital deafness, bilateral vestibular loss and severe retinitis pigmentosa. Usually diagnosed prepubertal.
Type II: The inner ear and the retina are less severely affected. There is congenital medium to severe impairment of hearing, normal vestibular function and retinitis pigmentosa, discovered in puberty.

Associated disorders may include gait disturbances attributed to labyrinthine lesions, cataracts, mental deficiency, psychoses, and ataxia. Observations of siblings and consanguinity. Usually, a family history of poor night vision, blue-green colour blindness, or total blindness.

The combination of retinitis pigmentosa and perceptive deafness was first reported in 1858 by Albrecht von Graefe, when he described three affected brothers who had been studied by his own cousin, Alfred Karl Graefe (1830-1899).

Three years later one of Albrecht von Graefe's pupils, Richard Liebreich (1830-1917), recognised the condition during a study of deaf persons in the Jewish population of Berlin. He drew attention to consanguinity amongst the parents of the affected individuals. His observation gave the first proofs of a combined heritability for blindness and deafness. In 1907 Viktor Hammerschlag (1870-1942) recognised a high frequency of the disorder amongst the Jewish community in Vienna.

Usher, influenced by his mentor, Nettleship, conducted a survey of deafness amongst persons with visual problems in the UK. He analysed his data in 1914 and reviewed the syndromic association in an article describing the pathology and inheritance of 69 cases.

Graefe-Sjögren syndrome has been entered as a separate entity under Albrecht von Graefe, German ophthalmologist, 1828-1870.

Bibliography

  • A. von Graefe:
    Vereinzelte Beobachtungen und Bemerkungen: Exeptionelles Verhalten des Gesichtfeldes bei Pigmentartung der Netzhaut.
    Archiv für klinische und experimentelle Ophthalmologie, 1858, 4: 250-253.
  • A. von Graefe:
    Demonstration in der Berliner Medizinischen Gesellschaft.
    Berliner klinische Wochenschrift, 1868, 5: 127.
  • C. H. Usher:
    On the inheritance of retinitis pigmentosa, with notes of cases.
    Royal London Ophthalmological Hospital Report, 1914, 19: 130-236.
  • C. H. Usher:
    Bowman lecture: On a few hereditary eye affections.
    Transactions of the Ophthalmological Society of the United Kingdom, 1935, 55: 164.
  • R. Liebreich:
    Abkunft aus Ehen unter Blutsverwandten als Grund von Retinitis pigmentosa.
    Deutsche Klinik, Berlin, 1861; 13: 53.

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