Mitochondrial Optic Neuropathies - Expanding Genotypes and Phenotypes

Mitochondrial Optic Neuropathies (MON) are a genetically and phenotypically diverse group of diseases. Despite the different genetic causes, there is considerable phenotypic overlap which makes distinguishing one mutation from another solely based on clinical presentation difficult. Moreover, clinical presentation can include non-ocular symptoms and the clinical manifestations can be variable even within the same family. The genetic causes of MON can also influence the severity of other diseases such as Multiple Sclerosis, and may modulate other neuropathological progression of other disorders such as Parkinson disease.