Background & Objective: Leber's hereditary optic neuropathy is an inherited form of optic
neuropathy, genetically and pathophysiologically based on mitochondrial insufficiency causing bilateral
loss of central vision mostly amongst young adults. Despite being one of the most common mitochondrial
diseases, the explanation for its pathophysiological background and effective clinical solutions
remain elusive. Widening the scope in the search for pathological findings beyond the optic system
has yielded several non-ophthalmologic findings, which might imply that Leber's hereditary optic
neuropathy is in fact a multi-systemic disease.
Conclusion: The aim of this review is to provide an overview of literature regarding the epidemiology,
etiology, pathogenesis, clinical features, diagnostics and possible treatment options and drug targets,
as well as presenting challenges related to the disease and proposing a diagnostic algorithm based on
current clinical experience.
Keywords: Leber's hereditary optic neuropathy, epidemiology, etiopathogenesis, clinical features, drug targets, multi-systemic
involvement, mitochondrial disease, ophthalmological manifestations.
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