Глаукома рассматривается как гетерогенная группа заболеваний со специфическим изменением биомеханики передней и задней камер глаза, результатом чего является увеличение продукции и уменьшение оттока водянистой влаги. Прогрессирующая дегенерация ганглиозных клеток сетчатки, микроглии, астроцитов, клеток Мюллера приводит к хроническому повреждению, истончению нейроретинального слоя и сужению поля зрения. Предметом данного исследования стала первичная по происхождению глаукома с открытым углом (ПОУГ). Именно ПОУГ, по данным многих исследований Американской оптометрической ассоциации, является наиболее распространенным видом глаукомы (72-96%), особенностью которой выступает беcсимптомность развития с постепенным снижением периферического зрения. Причиной такого патологического состояния являются повреждение зрительного нерва, неэффективность дренажной системы глаза с накоплением жидкости и повышением ВГД. Проблема изучения развития и прогрессирования ПОУГ из года в год становится все более актуальной. Анализ эпидемиологических исследований за последние полвека показал, что заболеваемость глаукомой демонстрирует стремительный рост. Данная статья представляет собой обзор литературы с точки зрения выделения ряда геновкандидатов. Значительный научный интерес представляет полиморфизм гена NOS3 через его влияние на формирование эндотелиальной дисфункции. Определение связи полиморфизмов rs1799983 и rs2070744 с развитием и прогрессированием ПОУГ. Поиск литературы выполнялся по таким базам научной литературы, как Web of Science, Google Scholar, PubMed, Scopus и другие. Генетическая детерминированность возникновения и прогрессирования ПОУГ позволяет выделить ряд генов-кандидатов. Значительный научный интерес представляет полиморфизм гена NOS3 из-за его влияния на формирование эндотелиальной дисфункции. Определение связи полиморфизмов rs1799983 и rs2070744 с развитием и прогрессированием ПОУГ, клиническими проявлениями заболевания позволит усовершенствовать ее раннюю диагностику и профилактику осложнений. Glaucoma is considered as a heterogeneous group of diseases with a specific change in biomechanics of the anterior and posterior chambers of the eye, resulting in a production increase and a decrease in aqueous humor outflow. Progressive degeneration of retinal ganglion cells, microglia, astrocytes, Mueller cells, leads to chronic damage, thinning of the neuroretinal layer and narrowing of visual field. The subject of this study is a primary in origin open-angle glaucoma (POAG). According to many studies by the American Optometric Association, POAG is the most common type of glaucoma (72-96%), characterized by asymptomatic development with a gradual decrease in peripheral vision. The reason for this pathological condition is damage of optic nerve, inefficiency of eye drainage system with fluid accumulation and increased intraocular pressure. The problem of POAG development and progression study becomes more and more relevant each year. In terms of epidemiological studies for the past 50 years, the incidence of glaucoma morbidity shows a rapid progressive increase. Review of the literature in terms of identifying a number of candidate genes. The polymorphism of the NOS3 gene through its influence on the formation of endothelial dysfunction is of considerable scientific interest. Determination of the relationship of the rs1799983 and rs2070744 polymorphisms with the development and progression of POAG. This article is а literature rewiev was performed in following database of scientific literature: Web of Science, Google Scholar, PubMed, Scopus and others. The genetic determinism of the occurrence and progression of POAG makes it possible to identify a number of candidate genes. The polymorphism of the NOS3 gene is of considerable scientific interest due to its influence on the formation of endothelial dysfunction. Determination of the relationship between the rs1799983 and rs2070744 polymorphisms with the development and progression of POAG, clinical manifestations of the disease will improve its early diagnosis and prevention of complications.
Glaucoma is one of the widespread eye diseases causing visual disturbances and even blindness. Almost 15% of blindness worldwide is due to glaucoma. One of the factors of glaucoma development is heredity. Currently, identification and diagnosis of new glaucoma cases is achieved either by routine screening or examinations prompted by perceived risk. The factors associated with the pathogenesis of glaucoma include high intraocular pressure (IOP), aging, decreased blood flow and genetic factors. Traditional vision screening for disorders like primary open-angle glaucoma (POAG) is time-consuming and costly. POAG is the most common type of glaucoma which has no obvious abnormality in the eye that points to a cause. Although mutations in several genes, including myocilin, optineurin, and CYP1B1 are associated with the disease, these genes account for less than 10% of cases worldwide. The paper reviews genetic studies in POAG. The genetic basis for the development of glaucoma and a variety of its related syndromes is considered. CYP1B1 is a member of a family of cytochrome P450 genes known to encode enzymes that metabolize and detoxify both endogenous and exogenous molecules, although their activity is not limited to detoxification. The human CYP superfamily contains 57 functional genes and 58 pseudogenes. Two specific substrates of CYP1B1 (estradiols and retinoic acid) could contribute to ocular development and specifically to the development of the ocular anterior segment.
Glaucoma is regarded as a heterogeneous group of diseases with a specific change in biomechanics of the anterior and posterior chambers of the eye, resulting in the increased production and decreased outflow of the aqueous humor. Progressive degeneration of retinal ganglion cells, microglia, astrocytes, Mueller cells leads to chronic damage, thinning of the neuroretinal layer and narrowing of visual field. In this study we investigated primary open-angle glaucoma (POAG). According to many American Optometric Association studies, POAG is the most common type of glaucoma (accounting for up to 72–96 % of cases) characterized by asymptomatic course with gradual decrease in peripheral vision. The reason for this abnormal condition is the optic nerve damage, inefficiency of eye drainage system with fluid accumulation and increased intraocular pressure. Investigation of POAG occurrence and progression becomes more and more relevant each year. Epidemiological studies for the past 50 years showed progressive increase in the incidence of glaucoma. In 5 % of cases, glaucoma is a monogenic disease with Mendelian inheritance. A significant proportion of cases POAG are genetically determined and have a clear hereditary predisposition, which according to various estimates determines from 20 to 60 %. NOS3 gene polymorphism is of considerable scientific interest due to its influence on the development of endothelial dysfunction. Of great scientific interest is determination of the relationship between the rs1799983 and rs2070744 polymorphisms with the development and progression of POAG. Literature review was performed in following database of scientific literature: Web of Science, Google Scholar, PubMed, Scopus etc. Keywords: prevalence of glaucoma, glaucoma epidemiology, gene polymorphism, NOS3 gene, endothelial dysfunction.
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