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Mitochondrial optic neuropathies are inherited nonsyndromic disorders characterized by selective degeneration of retinal ganglion cells leading to visual loss and optic nerve atrophy.1 The two most common are the maternally inherited Leber hereditary optic neuropathy (LHON, OMIM#535000) and the autosomal dominant optic atrophy (DOA, OMIM#165500). LHON, the first disease to be associated with a mitochondrial DNA (mtDNA) point mutation, is due in most cases to one of three mutations at positions 11778/ND4, 3460/ND1, and 14484/ND6 affecting complex I subunit genes. As a consequence there is a well documented defect of mitochondrial respiration, chronic increase in oxidative stress, and cell predisposition to apoptosis.1 As regards DOA, a large subset of patients present with a heterozygous mutation in OPA1, a nuclear gene encoding a dynamin-related GTPase targeted to mitochondria and involved in mitochondrial fusion, cristae organization, and control of apoptosis. There is mounting evidence that there is defective mitochondrial respiration also in OPA1-related patients with DOA.2,3
Despite being a nonsyndromic optic neuropathy …
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