FIELD: biotechnology.
SUBSTANCE: molecular genetic study of nuclear DNA extracted from the blood is carried out. A mutation c.2850delT in exon 28 of gene ORA1 is identified in combination with the clinical presentation characterised by a slowly progressive decline in visual acuity, dyschromatopsia, center or center-cecal scotoma, which allows diagnosing autosomal-dominant ON.
EFFECT: ability of differential diagnostics of diseases of the optic nerve with the further prognosis of course of optic neuropathy and prognosis for the offspring of the proband.
1 tbl, 1 ex
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