Abstract
Leber's hereditary optic neuropathy (LHON) is characterized by acute or subacute bilateral loss of central vision and by maternal inheritance. Numerous primary or secondary mtDNA mutations have been described in association with LHON. The mutation at nucleotide position 11778 is the most frequent among primary mtDNA mutations, accounting for 35% to 90% of LHON patients depending on ethnic group (Brown and Wallace 1994). Nevertheless, the penetrance of LHON is variable and the aetiology of the disease remains not completely clear. To identify possible synergistic interactions between mtDNA mutations associated with LHON and their role in the variable penetrance of the disease within families, 4 affected and 19 unaffected members along the maternal lineage of three Italian LHON pedigrees have been analysed for the presence of 12 primary (at nt 11778, 3460, 4160, 14484, 15257) and secondary (nt 4136, 4216, 4917, 5244, 7444, 13708, 15812) mtDNA mutations.
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