The eye pathology is limited to the retinal ganglion cell layer, especially the maculopapillary bundle. Degeneration is evident from the retinal ganglion cell bodies to the axonal pathways leading to the lateral geniculate nuclei. Experimental evidence reveals impaired glutamate transport and increased reactive oxygen species (ROS) causing apoptosis of retinal ganglion cells. Also, experiments suggest that normal, non-LHON-affected retinal ganglion cells produce less of the potent superoxide radical than other normal central nervous system neurons. Viral vector experiments that augment superoxide dismutase 2 in<unk>  cybrids or<unk>  animal models or use of exogenous glutathione in<unk>  cybrids have been shown to rescue<unk> -affected retinal ganglion cells from apoptotic death. These experiments may in part explain the death of<unk> -affected retinal ganglion cells in preference to other central nervous system neurons that also carry<unk> -affected mitochondria.
Leber's hereditary optic neuropathy
Kjer's optic neuropathy
Alexander disease
Graves' ophthalmopathy
Bosch-Boonstra-Schaaf optic atrophy syndrome
Sorsby's fundus dystrophy
Neuromyelitis optica spectrum disorder
Akureyri disease