Ocular involvement is a prevalent feature in mitochondrial diseases. Leber's hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA) are both non-syndromic optic neuropathies with a mitochondrial etiology. LHON is associated with point mutations in the mitochondrial DNA (mtDNA), which affect subunit genes of complex I. The majority of DOA patients harbor mutations in the nuclear-encoded protein OPA1, which is targeted to mitochondria and participates to cristae organization and mitochondrial network dynamics. In both disorders the retinal ganglion cells (RGCs) are specific cellular targets of the degenerative process. We here review the clinical features and the genetic bases, and delineate the possible common pathomechanism for both these disorders.
Mitochondrial Optic Neuropathies: How Two Genomes may Kill the Same Cell Type?
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Valerio Carelli, Chiara La Morgia, Luisa Iommarini, Rosanna Carroccia, Marina Mattiazzi, Simonetta Sangiorgi, Sabrina Farne', Alessandra Maresca, Beatrice Foscarini, Lucia Lanzi, Marcello Amadori, Marzio Bellan, Maria Lucia Valentino; Mitochondrial Optic Neuropathies: How Two Genomes may Kill the Same Cell Type?. Biosci Rep 13 June 2007; 27 (1-3): 173–184. doi: https://doi.org/10.1007/s10540-007-9045-0
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