A neurodegenerative perspective on mitochondrial optic neuropathies

@inproceedings{YuWaiMan2016ANP,
  title={A neurodegenerative perspective on mitochondrial optic neuropathies},
  author={Patrick Yu-Wai-Man and Marcela Votruba and Florence Burt{\'e} and Chiara la Morgia and Piero Barboni and V Carelli},
  booktitle={Acta Neuropathologica},
  year={2016}
}
Mitochondrial optic neuropathies constitute an important cause of chronic visual morbidity and registrable blindness in both the paediatric and adult population. It is a genetically heterogeneous group of disorders caused by both mitochondrial DNA (mtDNA) mutations and a growing list of nuclear genetic defects that invariably affect a critical component of the mitochondrial machinery. The two classical paradigms are Leber hereditary optic neuropathy (LHON), which is a primary mtDNA disorder… CONTINUE READING