- A dictionary of medical eponyms

Norrie's disease

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A rare form of hereditary blindness resulting from severe retinal malformations, opacity of the lens and atrophy of the iris. Progressive mental retardation may take place from 18 months to 5 years. The hearing impairment may appear from childhood to middle life. Only males affected. Inheritance is sex-linked.

The congenital pseudo tumor of the retina was first described in 1925 by the German ophthalmologist Leopold Heine (1870-1940) and in 1927 by Norrie, who reported two families with proliferating retinale masses. These individuals comprised five blind brothers with three blind maternal uncles and a second kindred in which the maternal grandmother of two blind boys had three blind brothers.

The additional deafness and oligophrenia was described in 1961 by Mette Warburg, who coined the term Norrie's disease. Together with her own co-workers Warburg was subsequently able to identify the gene locus for this condition on the short arm on the X-chromosome.

We thank A. Tlumak for correcting an error in our original entry.


  • L. Heine:
    Über das familiäre Auftreten von Pseudoglioma congenitum bei zwei Brüdern und Amotio retinae acq. bei Vater und Sohn ünd über Pseudogliom mit Nekrose der Uvea und Retina beim Sohn eines Vaters mit Iritis (Tbc?)
    Zeitschrift für Augenheilkunde, Basel, 1925, 56: 155-164.
  • G. Norrie:
    Causes of blindness in children: twenty-five years’ experience of Danish Institutes for the blind.
    Acta Ophthalmologica, Copenhagen, 1927, 5: 357-386.
  • S. E. Whitnall & R. M. Norman:
    Microphthalmia and the visual pathways a case associated with blindness and imbecility, and sex-linked.
    British Journal of Ophthalmology, 1940, 24: 229-244.
  • S. R. Andersen and M. Warburg:
    Norrie's disease. Archives of Ophthalmology, Chicago, 1961, 66: 614-618.
  • M. Warburg:
    Norrie’s disease (atrophia bulborum hereditaria). A report of 11 cases of hereditary bilateral pseudotumor of the retinae, complicated by deafnesss and mental deficiency.
    Acta ophtalmologica, Copenhagen, 1963, 41: 134-146. Norrie’s disease: a congenital progressive oculo-acoustic cerebral degeneration.
    Acta ophtalmologica, Copenhagen, 1966, 89 (supplement): 1-147.
We thank Andre Trombeta for information submitted.

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