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LHON and extraocular features
Author(s) -
YuWaiMan P.
Publication year - 2015
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2015.0028
Subject(s) - extraocular muscles , medicine , disease , myopathy , optic neuropathy , dystonia , presentation (obstetrics) , leber's hereditary optic neuropathy , mitochondrial disease , mitochondrial myopathy , mitochondrial dna , neuroscience , genetics , pathology , ophthalmology , biology , optic nerve , psychiatry , surgery , gene
Summary LHON is typically a monosymptomatic disease but additional features such as cardiac conduction defects, peripheral neuropathy, dystonia, and myopathy have been reported as occurring more frequently among LHON carriers. There is also a well‐reported association between the three primary mitochondrial DNA LHON mutations and a multiple sclerosis‐like illness, especially among female carriers (so‐called Harding's disease). This presentation will critically appraise the extraocular features that have been associated with LHON and how these atypical phenotypes are potentially informing us about important disease mechanisms.