Genetic testing of ocular manifestations of proliferative syndrome to provide pathophysiology-oriented treatment

Background: uncontrolled cell proliferation of the ocular blood network is one leading causes blindness and low vision worldwide. We summarize relevant published data our 5-year experience in searching treatment tools for excessive non-productive proliferation. Aim: to describe genetic patterns patients with predicting disease course selecting adequate treatment. Patients Methods: 1210 proliferative disorders, retinopathy prematurity, diabetes were enrolled. divided into three groups: (1) monogenic (2) vitreoretinopathy mellitus, (3) prematurity. Follow-up was 6 36 months. Laboratory, genetic, clinical tests pursued all patients. Results: proprietary approach bioinformatic analysis whole exome/whole genome sequencing allows specifying process’s prognosis severity given findings. This includes gene mutations directly or indirectly involved angiogenesis key signaling pathways. The mutation identified group 2 revealed 509C>T TGFB1 polymorphism two c.3174G>A IGF1R In 3, most common VEGFA polymorphisms +13553C>T, -634G>C, +405G>C (rs2010963), -460C>T (rs833061). Conclusion: disorders pathogenically-oriented targeted requires specialized testing using an improved approach. Keywords: syndrome, diabetes, VEGFA, TGFB1, IGF1R, Stickler Wagner Wolframe Marshall Norrie disease, Coats retinoschisis. For citation: Weener M.E., Bakunina N.A., Salmasi J.M. et al. Genetic manifestations syndrome provide pathophysiology-oriented Russian Journal Clinical Ophthalmology. 2022;22(1):16–22 (in Russ.). DOI: 10.32364/2311-7729- 2022-22-1-16-22.