RISK OF FALSE-POSITIVE MOLECULAR-GENETIC DIAGNOSIS OF LEBERS HEREDITARY OPTIC NEUROPATHY

PURPOSE/METHODS: The most common patho genic mitochondrial, mutation a t nucleotide 11778 in Leber's hereditary optic neuropathy is usually d etected by the loss of an SfaNI restriction site. To evaluate a false- positive diagnostic error in this molecular genetic assay, we investig ated SfaNI polymorphism in 120 patients with bilateral optic atrophy. RESULTS/CONCLUSIONS: The ratio of false-positive to true-positive resu lts was 1:36. Mitochondrial DNA polymorphism at nucleotide 11779 refle cts a false-positive genetic error.