Next Generation Sequencing results in an Italian cohort of hereditary optic neuropathies patients

Hereditary optic neuropathies (HON) have common pathophysiologic mechanisms involving mitochondrial dysfunction. Known causative mutations are reported in mitochondrial DNA genes (i.e. LHON) but also in nuclear-encoded genes with mitochondrial functions such as mitochondrial dynamics (i.e. OPA1). Next Generation Sequencing (NGS), by screening simultaneously several candidate genes, has become the main gold standard to discover molecular defects in rare hereditary diseases. We aimed at genetically screening consecutive HON patients negative for LHON and OPA1 mutations.