К вопросу об этиологии, диагностике и лечении кератоконуса

Abstract

Purpose. To improve the methods of diagnosis and treatment of keratoconus (КС) based on the study of clinical and functional, molecular genetic and epidemiological characteristics of this disease in the Republic of Bashkortostan (RB). Material and methods. 477 patients with КС (954 eyes), 115 close relatives of КC patients were examined. The analysis of epidemiological indicators of КC in the RB was carried out based on the materials of the annual reports of the ophthalmological service for a 7-year period. The study of molecular genetic aspects of КC was carried out in 181 patients (including 66 patients with CC and 115 of their relatives), of different ethnicity, living in the Republic of Bashkortostan. Results. The average prevalence of KC during the study period was 6.7, and the incidence according to the data of the appeal was 2.0 per 100,000 population. The highest prevalence rates occurred among such nationalities as Chechens (0.36 %), Azerbaijanis (0.17 %) and Armenians (0.15 %). As a result of molecular genetic studies, single nucleotide substitutions in the SOD1 gene were identified: rs16988404, rs2234694 not previously described in patients with KC. The frequency of the minor allele in the sample of patients was 6.1 % and 3.0 %, respectively. Conclusion. The high incidence and prevalence of KC in the Republic of Bashkortostan among people of working age with significant ethnic (predominance among Caucasian nationalities) was revealed and gender (2 times more often in men) segregation. In a quarter of cases, hereditary forms of KC occur. A number of the most informative keratobiometric parameters in the diagnosis were revealed: the irregularity of the cornea in the 3 mm zone, the thickness of the cornea in the center, at the thinnest point, the maximum elevation of the anterior surface, as well as the elevation indicators of the posterior surface. Keywords: keratoconus, epidemiology, diagnosis, treatment, Republic of Bashkortostan