An inherited form of vision loss, Leber hereditary optic neuropathy (LHON) is caused by missense mutation in one of several of the mitochondrially encoded subunits of complex I. The most commonly observed variants are in MT-ND1, MT-ND4, MT-ND4L, or MT-ND6; variants in MT-ND2 and MT-ND5 have also been described.
A fly model using the fly ortholog of MT-ND2 to address the broader category of 'mitochondrial complex I disorders, MT-ND2-related' (FBhh0000382) has been developed.
[updated Oct. 2019 by FlyBase; FBrf0222196]
LHON is characterized by bilateral, painless, subacute visual failure that develops during young adult life. Most patients eventually become legally blind. [from Gene Reviews, Leber Hereditary Optic Neuropathy; 2016.08.27]
LHON presents in midlife as acute or subacute central vision loss leading to central scotoma (blind spot) and blindness. [from MIM:535000; 2016.08.27]
Leber hereditary optic neuropathy is caused by missense mutation in one of several of the mitochondrially encoded subunits of complex I. The most commonly observed variants are in MT-ND1, MT-ND4, MT-ND4L, or MT-ND6; variants in MT-ND2 and MT-ND5 have also been described. [from Gene Reviews, Leber Hereditary Optic Neuropathy; 2016.08.27]
