Heteroplasmy in Leber's Hereditary Optic Neuropathy

Leber's hereditary optic neuropathy (LHON) is characterized by maternal transmission of mutant mitochondrial DNA. About 50% of LHON patients have a point mutation at position 11778 in the ND_4 gene. Heteroplasmy is the presence of both normal and mutant mitochondrial DNA in tissue from a given patient, and has been demonstrated in some 11778+ LHON patients. This is the first study to evaluate systematically the clinical significance and transmission of heteroplasmy in LHON families