Leber hereditary optic neuropathy (LHON, MIM 535000) is a mitochondrial genetic disease that causes blindness in young adults, with an estimated prevalence of 1 in 25 000 in the north east of England. It classically presents as bilateral subacute loss of central vision owing to the focal neurodegeneration of the retinal ganglion cell layer. There is marked cell body and axonal degeneration, wit...

BACKGROUND Leber's Hereditary Optic Neuropathy (LHON; MIM 535000) is one of the most commonly inherited optic neuropathies and it results in significant visual morbidity among young adults with a peak age of onset between the ages of 15-30. The worldwide incidence of LHON is approximately 1 in 31,000. 95 % of LHON patients will have one of 3 primary mitochondrial mutations, G3460A (A52T of ND1)...