The review addresses the management of primary glaucoma as a socially significant multifactorial disease. The main reasons that impede the timely diagnosis and treatment of patients with glaucoma are indicated: blurring of boundaries, conventionality of standards, and lack of individualized approach to treatment. The main risk factors for the development of glaucoma are highlighted, with special attention to hereditary predisposition and the role of “medicine of the future” in managing glaucoma. Four fundamental principles are described: personalization, prediction, prevention and participative attitude (P4 medicine). Advanced scientific understanding of the key risk factors for the development and progression of glaucoma, together with a modern personalized and personified approach will further develop precise individual strategies for the prevention and treatment of the disease.

Purpose:to study morphological and functional relationships in the early and preclinical diagnosis of glaucomatous optical neuropathy based on optical coherence tomography (OCT) of the retina and the data of electrophysiological research. Material and methods. Two clinical groups: (I) 35 patients (60 eyes) aged 49–70 (ave. 58.0 ± 5.3 yrs) with suspected glaucoma and (II) 21 patients (30 eyes) aged 46-68 (ave. 61.0 ± 4.8 yrs) with initial primary open-angle glaucoma (POAG), and a comparison group consisting of 36 relativelyhealthy subjects (41 eyes) aged 54–70 (ave. 62.0 ± 4.5 yrs), were subjected to spectral OCT by OСT Spectralis (Heidelberg Engineering, Germany). The thickness of the peripapillary layer of retinal nerve fibers (pRNFL), the minimum rim width (MRW), and the thickness of theretinal layers in the macular region that make up the ganglion cell complex (GCC) were evaluated. Spearman correlation analysis was used to identify correlations between OCT and electroretinography (ERG) data. Results.In patients with suspected glaucoma, changes in the parameters of transient pattern-ERG correlated with RNFL thinning in the macular region, inner plexiform layer (IPL), and ganglion cell layer(GCL) in the parafoveal area. In patients with initial glaucoma, changes in the retinal GCL were detected for the upper, lower, and temporal quadrants, while the nasal and central quadrants remained intact in all three GCC layers (RNFL, GCL, and IPL). In patients with suspected glaucoma, no statistically significant changes in the thickness of the pRNFL as compared with the norm were detected. Yet the MRW differed significantly from the comparison group. The highest number of correlations was found between the parameters of the ERGs and the thickness of the pRNFL. In patients with the initial stage of POAG, there was a significant increase in the thickness of RNFL in the temporal quadrant of the paramacular region. In our opinion, this phenomenon may be associated with the development of reactive gliosis being thereaction of neuroglia in response to changes in vascular and/or dystrophic homeostasis. Conclusion.Specific combinations of changes in the structural parameters of the retina and optic nerve head and the temporal and amplitude indices of the PERG and phototopic negative response have been found, justifying their use as combined markers of early and preclinical diagnosis of POAG.

Цель исследования - изучение взаимосвязи полиморфизмов генов, кодирующих структуру регуляторных белков синтеза и деградации экстрацеллюлярного матрикса соединительной ткани, с развитием первичной открытоугольной глаукомы (ПОУГ). Обследовано 144 человека (мужчин - 56, женщин - 88), средний возраст 59,3±6,2, не состоящих в родстве, русской национальности. Группу I составили 40 человек с подозрением на глаукому, в группу II вошли 40 человек с диагнозом ПОУГ I-II стадий на одном или обоих глазах. Пациенты обеих групп имели отягощенный семейный анамнез по глаукоме. Группу контроля составили 64 относительно здоровых человека. Всем пациентам проведены стандартные и специальные офтальмологические, а также молекулярно-генетические исследования. Носительство генотипа GT и аллеля Т полиморфизма rs8136803 (TIMP3), генотипа AG и аллеля A полиморфизма rs652438 (MMP12), генотипа GA и аллеля A полиморфизма rs3825942 (LOXL1) ассоциировано с развитием ПОУГ. Ассоциации полиморфизма rs1048661 гена LOXL1 с развитием ПОУГ не выявлено. Проведенное исследование указывает на необходимость формирования алгоритма обследования пациентов с ПОУГ и подозрением на глаукому с включением молекулярно-генетических исследований. Objective: to study gene polymorphisms associated with the remodeling of the connective tissue of the eye as markers of preclinical diagnosis of primary open-angle glaucoma in patients with hereditary predisposition. Materials and methods: a total of 144 persons (56 men, 88 women), average age 59.3±6.2, were examined, not related, of Russian nationality. Group I consisted of 40 individuals suspected to affected by glaucoma, group II included 40 individuals with a diagnosis of I-II stage POAG in one or both eyes. Patients of both groups had a complicated family history of glaucoma. The control group consisted of 64 relatively healthy individuals. All patients underwent standard and special ophthalmological examination, as well as molecular genetic testing. Results: carriage of GT genotype and T allele of rs8136803 polymorphism (TIMP3), AG genotype and A allele of rs652438 polymorphism (MMP12), GA genotype and A allele of rs3825942 polymorphism (LOXL1) was associated with the development of POAG. The rs1048661 polymorphism of the LOXL1 gene cannot be considered as a marker of POAG development. Conclusion: the study indicates the need to develop a correct algorithm for diagnosing patients with POAG and suspected glaucoma with the inclusion of molecular genetic studies.

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