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Leber's optic atrophy

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A rare hereditary form of optic atrophy that usually affects young males. Characterised by sudden bilateral cloudiness of vision, followed by scotoma, rapid deterioration of central vision, and occasional colour vision disorders. Associated with atrophy of the optic nerve fibres and the retinae. It is due to mutations in the mitochondrial genome. The pattern of transmission within a kindred is not in accordance with Mendelian principles and it is apparent that a complex mechanism of inheritance is in operation. For unknown reasons boys are more likely to be affected. Mutations have been found in the ND1, ND4, and ND6 subunits of mitochondrial complex I.

We thank Stephen G. Kahler for information submitted.


  • T. Leber:
    Beiträge zur Kenntniss der atrophischen Veränderungen des Sehnerven nebst Bemerkungen über normale Structur des Nerven.
    Archiv für Ophthalmologie, Berlin, 1868; 14: 164-176. Über hereditäre und congenital-angelegte Sehnervenleiden.
    [Albrecht von Grafes] Archiv für Ophthalmologie, Berlin, 1871, 17: 2 Abt, 249-291.
    First description of his syndrome. Die Krankheiten der Netzhaut.
    In: Graefe-Saemisch Handbuch der gesammten Augenheilkunde, 2nd edition, page 1076. Leipzig, 1898-1915.

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