Aim: Genetically and epidemiological study of inhered eye diseases in various populations of the Russia and comparative analysis of these findings.

Results: More than 46,000 patients and their relatives with presumably hereditary conditions were examined and data were collected. 554 clinically diverse hereditary diseases in 9,979 individuals were identified. Isolated hereditary eye disease was identified in 1,407 patients (14.56%). The mean prevalence of isolated hereditary eye disease was 1:2,272 (or 44.01 per 100,000). When assessing patterns of nosological spectrum and prevalence of isolated hereditary eye disease in each population/ethnic group using principal component analysis, 2 clusters were isolated. The first cluster includes 6 Russian populations and the second cluster includes 5 ethnic Volga Region groups, which are more similar to Russian populations than the North Caucasus people. In general, 57 hereditary syndromes (affecting anterior and posterior eye segments) in 1,051 patients were discovered. The mean prevalence of syndromic hereditary eye disease was 1:3,040 (or 32.89 per 100,000).

Vitaly Kadyshev of the Candidate of Sciences (Medicine), Professor of the Russian Academy of Natural History, Head of the Ophthalmic Genetics Department, Head of the scientific and clinical Centre of the genetics of eye diseases, Leading Researcher, physician (ophthalmologist, geneticist) of the Federal State Budgetary Scientific Institution Research Center for Medical Genetics by acad. N.P. Bochkov.

During his work, He has published more than 100 printed works in leading domestic and foreign medical publications. He is a co-author of a guidance manual on mucopolysaccharidosis and an author of a chapter in the Educational Guide Methodology of Genetic and Epidemiological Study of Inherited Diseases and Congenital Malformations. He is a member of the team of authors of guidelines on aniridia and inherited retinal diseases. He is one of the authors of the patent for the invention Method of Differential and Confirming Molecular-Genetic Diagnosis of Congenital Aniridia and WAGR Syndrome. The WAGR Syndrome database and a software solution, a graphical interface of the WAGR Syndrome database, developed by him, have been registered and implemented in practical healthcare.

Under his guidance, 2 dissertation works for the Candidate of Sciences (Medicine) degree has successfully been defended.

He is a full member of the Association of Medical Geneticists, the Russian Society of Medical Geneticists, the Association of Ophthalmologists of Russia, the European Society of Human Genetics (ESHG), and the European Society of Retina Specialists (EURETINA).