Молекулярно-генетические аспекты наследственных форм первичной открытоугольной глаукомы в Республике Башкортостан

The analysis of the results of molecular genetic testing in 1045 individuals (496 patients with primary open-angle glaucoma (POAG) and 589 individuals of the control group) was carried out. Mutation p.Q368X (c.1102C> T) in the gene myocilin (MYOC) was identified in the heterozygous state in 1 patient (0.17%) from the control group. In the study group, this mutation was detected in 8 unrelated patients (1.6% of all patients with POAG). The total contribution of the identified patients with POAG mutations p.Q368X (c.1102C> T) in the gene MYOC was 0.8%.