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  • Title: Leber hereditary optic neuropathy - historical report in comparison with the current knowledge.
    Author: Piotrowska A, Korwin M, Bartnik E, Tońska K.
    Journal: Gene; 2015 Jan 15; 555(1):41-9. PubMed ID: 25261848.
    Abstract:
    Leber hereditary optic neuropathy (LHON) is a genetic, maternally inherited disease caused by point mutations in the mitochondrial genome. LHON patients present with sudden, painless and usually bilateral loss of vision caused by optic nerve atrophy. The first clinical description of the disease was made by Theodor Leber, a German ophthalmologist, in 1871. Here we present his thorough notes about members of four families and their pedigrees. We also provide insights into the current knowledge about LHON pathology, genetics and treatment in comparison with Leber's findings.
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