FIELD: medicine.
SUBSTANCE: clinical and cytological examinations are conducted; additionally, the fibroblast culture of the density of 5,000-10,000 cells per cm2 is produced from the patient's skin and stained with TMRE mitochondrial voltage-dependent fluorescent dye to a final concentration of 25 nM. A mitochondrial fluorescence strength is measured in the culture prior to and 30 min after oligomycin is added to the final concentration of 10 mcM, and if observing an increase by no more than 7% therein or a decrease, hereditary optic neuropathy is diagnosed.
EFFECT: improving diagnostic accuracy for conducting a specific treatment, predicting the clinical course in a proband, predicting for the proband relatives and posterity, as well as simplifying the technique.
15 dwg, 4 ex
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