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  • Title: Optic nerve atrophy and whole and regional brain atrophy in Leber's hereditary optic neuropathy with multiple sclerosis-like disease with m.11778G>A mutation.
    Author: Rościszewska-Żukowska I, Bartosik-Psujek H.
    Journal: Mult Scler Relat Disord; 2020 Jul; 42():102071. PubMed ID: 32387972.
    Abstract:
    Leber's hereditary optic neuropathy (LHON) is a maternally inherited form of mitochondrial optic nerve degeneration with bilateral optic atrophy. Its coexistence with multiple sclerosis (MS)-like disease (LHON-MS) is rare and also known as Harding's syndrome. The presence of LHON-MS complicates the diagnosis of optic neuritis associated with MS, which can delay the correct diagnosis and necessary treatment. Here we report optic nerve atrophy in a patient with LHON-MS coexistent with severe global and regional brain atrophy. Furthermore, we also reviewed the available literature on this rare clinical entity.
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