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To investigate the possibility and consequences of false positive testing for Leber's hereditary optic neuropathy (LHON) using repeated testing. In three cases of suspected LHON, initial mutation analysis using restriction fragment length polymorphism (RFLP) and direct sequencing showed rare mtDNA mutations at nt 14482 in two cases and a mutation in nt 14484 in the third case which has been associated with a mild variant of LHON. All three patients consulted a specialized neuro-ophthalmology center for a second opinion. During the examina