Toxic optic neuropathies – Update on genetics and therapy

Toxic optic neuropathies are characterized by bilateral visual loss, papillomacular bundle damage, central or centrocecal scotoma and colour vision defect. Multifactor causes play a role in disease manifestation such as toxic, nutritional and genetic defects of mitochondrial DNA. Toxic optic neuropathies are caused by defect to mitochondrial metabolism with consequent damage of retinal ganglion cells with higher energy (ATP) demand. Moreover, the interaction of the mtDNA genetic background with most common toxic exposure, tobacco, could explain the phenotypic expression of the disease. Finally, for a better prognosis an early diagnosis is necessary as is a faster therapeutic approach entailing the correction of toxic causes.