Leber hereditary optic neuropathy (LHON), also known as Leber optic atrophy, is a familial neuro-ophthalmologic disorder manifest by varying degrees of loss of ganglion cells from the optic nerve, with variable severity at onset, variable rate of deterioration, variable ultimate vision outcome and variable recovery of lost vision (Kelly).
Causes
LHON is caused by any of eighteen mutations of various mitochondrial genes coding for subunits of electron transport chain complexes, primarily complex I (NADH-dehydrogenase), which are responsible for converting energy derived from food into a form usable at the cellular level. Three of these mutations, those at base pairs 11778, 3460 and ...
