Leber's hereditary optic neuropathy: Diagnostic pitfalls in genetic testing.

A high level of suspicion is important when an accumulation of rare mutations occurs. It is only because of the attentiveness of a specialized neuro-ophthalmologist and the testing laboratory that the diagnosis of LHON was averted. Every laboratory testing can produce false positive results. Therefore, we emphasize that a positive test should be confirmed by a second independent laboratory, at least if the clinical findings seem not to be typical for LHON.