Revisiting the issue of mitochondrial DNA content in optic mitochondriopathies

Involvement of the visual system in mitochondrial diseases, in particular of retinal ganglion cells (RGCs) and the optic nerve, is very common and has been defined “optic mitochondriopathies.”1 The prototype is Leber hereditary optic neuropathy (LHON, OMIM 535000), the first disease to be associated with a mitochondrial DNA (mtDNA) point mutation and now considered the most frequent mitochondrial disease.2 LHON has been joined by dominant optic atrophy (DOA, …

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