scholarly journals Evaluation of the contribution of matrix metalloproteinase gene polymorphism to the formation of glaucoma in men (analysis of three-locus gene models)

Author(s):  
Д.И. Свинарева

Первичная открытоугольная глаукома (ПОУГ) - это хроническое заболевание глаз, сопровождающееся повышением внутриглазного давления и характерными изменениями поля зрения. Мужской пол является фактором риска развития глаукомы. Целью исследования явилось изучение роли трехлокусных моделей с участием 8 полиморфных локусов генов матриксных металлопротеиназ (rs679620 ММР3, rs1799750 ММР1, rs2250889, rs3918249, rs17576, rs3918249, rs3787268 и rs17577 ММР9) в формировании ПОУГ у мужчин. Нами выявлено 7 трехлокусных моделей SNP×SNP взаимодействий, определяющих подверженность к развитию ПОУГ у мужчин. Primary open-angle glaucoma (POAG) is a chronic eye disease accompanied by an increase in intraocular pressure and specific changes in the visual field. Male gender is a risk factor for glaucoma. The aim of the study is research the role of three-locus models with the participation of 8 polymorphic loci of the matrix metalloproteinases genes (rs679620 MMP3, rs1799750 MMP1, rs2250889, rs3918249, rs17576, rs3918889 and rs17577 MMP9) in the POAG formation among men. We have identified 7 three-locus models of SNP × SNP interactions that determine susceptibility to the development of POAG in men.

2021 ◽  
Vol 8 (33) ◽  
pp. 3084-3089
Author(s):  
Ram Kumar Jaiswal ◽  
Ramyash Singh Yadav ◽  
Mridula Ranjan ◽  
Dipti Wahi ◽  
Chiranji Rai

BACKGROUND Myopia is a complex trait including both genetic and environmental factors as well as gene-environment interactions. It has been recognized as a risk factor for development of glaucoma. Both Myopia and raised IOP are known to increase mechanical stress at optic nerve head leading to glaucomatous nerve damage. This study intends to evaluate the clinical profile of myopic subjects and its correlation with Primary open angle glaucoma (POAG). METHODS A prospective observational study done from November 2019 to December 2020 after taking proper informed consent and ethical clearance. 164 eyes of 96 patients studied were divided into three groups, Group 1: low myopia (< -3.00D), Group 2: moderate myopia (-3.00 D to -5.75 D), Group 3: high myopia (≥ -6.00 D). A complete ocular examination was performed. Intraocular pressure was measured using Goldmann applanation tonometer. Visual field analysis using Humphrey automated perimetry was done in patients with suspected primary open angle glaucoma (POAG). Angle parameters and central corneal thickness (CCT) were measured using anterior segment optical coherence tomography (AS-OCT). RESULTS 164 eyes of 96 Myopic subjects were studied with no dropout during study period. Mean age was 46.05 yr. (range: 25-75 yr.). The refraction ranged from -0.50 DS to -17.00 DS. There was no statistically significant difference between Intraocular pressure (IOP), Central corneal thickness (CCT), corrected IOP and Nasal and Temporal Trabecular-iris Angle (TIA) between male and female of same age group. Mean IOP and mean CCT were found to vary significantly with age and with higher degree of myopia. Corrected IOP, Nasal and Temporal TIA increase significantly with higher degree of myopia. Cup-disc ratio (CDR) was found to be significantly higher in patients with moderate to high degree of Myopia. CONCLUSIONS Myopia is an important risk factor for development of primary open angle glaucoma, with its incidence increasing in patients with moderate to high myopia. KEYWORDS Myopia, Primary Open Angle Glaucoma, Intraocular Pressure, Central Corneal Thickness, Trabecular Iris Angle


Ophthalmology ◽  
1998 ◽  
Vol 105 (12) ◽  
pp. 2225-2230 ◽  
Author(s):  
Miguel A Teus ◽  
Miguel A Castejón ◽  
Miguel A Calvo ◽  
Patricia Pérez—Salaı́ces ◽  
Ana Marcos

2015 ◽  
Vol 7 ◽  
pp. OED.S32004 ◽  
Author(s):  
Christopher T. Leffler ◽  
Stephen G. Schwartz ◽  
Francesca M. Giliberti ◽  
Matthew T. Young ◽  
Dennis Bermudez

Glaucoma involves a characteristic optic neuropathy, often with elevated intraocular pressure. Before 1850, poor vision with a normal eye appearance, as occurs in primary open-angle glaucoma, was termed amaurosis, gutta serena, or black cataract. Few observers noted palpable hardness of the eye in amaurosis. On the other hand, angle-closure glaucoma can produce a green or gray pupil, and therefore was called, variously, glaucoma (derived from the Greek for glaucous, a nonspecific term connoting blue, green, or light gray) and viriditate oculi. Angle closure, with palpable hardness of the eye, mydriasis, and anterior prominence of the lens, was described in greater detail in the 18th and 19th centuries. The introduction of the ophthalmoscope in 1850 permitted the visualization of the excavated optic neuropathy in eyes with a normal or with a dilated greenish-gray pupil. Physicians developed a better appreciation of the role of intraocular pressure in both conditions, which became subsumed under the rubric “glaucoma”.


2021 ◽  
Vol 62 (2) ◽  
pp. 28
Author(s):  
Brian S. Cole ◽  
Harini V. Gudiseva ◽  
Maxwell Pistilli ◽  
Rebecca Salowe ◽  
Caitlin P. McHugh ◽  
...  

2021 ◽  
Vol Special issue (3) ◽  
pp. 21-24
Author(s):  
Azamat Yusupov ◽  
◽  
Muyassar Khamitovna Karimova ◽  
Mastona Zakirkhodzhayeva

The principles of glaucoma diagnostics are based on the triad of symptoms -the excess of IOP over the tolerant level, changes in the visual field, primarily in the Bjerrum zone, and also on glaucomatous excavation of the optic nerve head. It should be recognized that the IOP level is the only proven risk factor for the progression of glaucomatous optic nerve atrophy and, at the same time, the only factor that we can influence. That is why the determination of IOP is of great importance in diagnosis and is the basis for evaluating the effectiveness of glaucoma treatment.Keywords: IOP (intraocular pressure), tonometry, glaucoma, primary open-angle glaucoma, glaucomatous optic neuropathy, tonometer, pneumotonometer


2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Christian Albrecht May

Since the pathomechanisms of primary open angle glaucoma are still not defined, different aspects related to this topic have to be discussed and further investigated. Possible candidates are the mineralocorticoids, which are known to lower intraocular pressure. A data search and personal investigations assume a limited role of mineralocorticoids for the development of glaucoma. Specific experiments for a final conclusion are, however, not yet performed.


Author(s):  
Е.В. Собанчеев ◽  
Ю.А. Витковский ◽  
А.С. Емельянов ◽  
А.Н. Емельянова ◽  
Е.А. Жаринова ◽  
...  

Актуальность. Несмотря на всестороннее изучение патогенеза первичной открытоугольной глаукомы (ПОУГ), механизмы возникновения заболевания до конца не изучены. В настоящее время определена роль аквапоринов в регуляции внутриглазного давления. Были обнаружены мутации, усиливающие и снижающие функции аквапорина 4, описано влияние различных генетических вариантов аквапоринов на величину внутриглазного давления. Цель исследования. Исследовать частоту встречаемости вариантов полиморфизма rs2075575 (C/Т) гена аквапорина 4 у больных ПОУГ. Материалы и методы. В исследовании приняли участие 101 пациент с ПОУГ и 80 здоровых людей (контрольная группа). Возраст исследуемых колебался от 45 до 87 лет. Средний возраст составил 66 лет. Критерием включения в основную группу служил диагноз ПОУГ развитой, далеко зашедшей и терминальной стадий. Критериями включения в контрольную группу служили возраст старше 60 лет, отсутствие глаукомы и выраженной соматической патологии. ДНК выделяли из буккального эпителия. Полиморфизм гена аквапорина 4 rs2075575 определяли методом полимеразной цепной реакции. Результаты. Установлено, что распределение генотипов у пациентов с ПОУГ отличается от группы здоровых лиц. Обнаружено, что генотип СС среди больных глаукомой встречается в 1,8 раза чаще, чем в контрольной группе. Наоборот, генотип СТ выявляется в 1,5 раза чаще в контрольной группе. Отношение шансов (OR) для генотипа СС равно 2,48 (95% CI 1,30-4,74). У генотипа СТ выявляется протекторная роль, OR =0,52 (95% CI 0,28-0,97). Частота встречаемости генотипа ТТ в исследуемых группах не различается. Выводы. Полиморфный вариант rs2075575 (C/Т) гена аквапорина 4 вносит вклад в риск развития ПОУГ в исследованной выборке. Background. Despite a comprehensive study of the pathogenesis of the disease, the mechanisms of primary open-angle glaucoma are not completely clear. Currently, the role of aquaporins in the regulation of intraocular pressure has been determined. Mutations were discovered that enhance and decrease the functions of aquaporin 4. The effect of various genetic variants of aquaporins on the value of intraocular pressure is described. The aim of research. To investigate the variability of the polymorphism of aquaporin 4 rs2075575 (C / T) in patients with glaucoma. Materials and methods. 101 persons with primary open-angle glaucoma and 80 persons without glaucoma (the control group) were examined. The age of the subjects ranged from 45 to 87 years. The average age was 66 years. The criterion for inclusion in the main group was the diagnosis of primary open-angle glaucoma of a developed, distant and terminal stage. The criteria for inclusion in the control group were age over 60 years, the absence of glaucoma, the absence of pronounced somatic pathology. DNAs were extracted from buccal epithelium. The polymerase chain reaction (PCR) method was used to determine the polymorphism of the aquaporin gene 4 rs2075575. Results. There was a significant difference in the distribution of genotypes in the study and control groups. СС genotype among patients with glaucoma occurs 1.8 times more often than in the control group. CT genotype, on the contrary, is 1.5 times more often in the control group. The odds ratio (OR) for this genotype is 2.48 (95% CI 1.30 - 4.74). The CT genotype reveals a protective role, OR = 0.52 (95% CI 0.28 - 0.97). The genotype of TT in the studied groups is slightly different in frequency of occurrence. Conclusion. The frequencies of gene polymorphisms of aquaporin 4 rs2075575 (C/Т) in patients with primary open-angle glaucoma and healthy were diverse. The likelihood of developing primary open-angle glaucoma is increased in carriers of the СС genotype. Genotype CT play a protective role for primary open-angle glaucoma.


Author(s):  
E. N. Simakova ◽  
O. V. Stenkova

Introduction. Glaucoma is one of the most significant eye diseases. It is often diagnosed, not always amenable to therapy, and can lead to a complete loss of visual functions. In recent years, the method of osteopathic correction has become widespread as one of the effective methods of treatment and rehabilitation of patients with pathologies of various body systems. In the pathogenesis of glaucoma, it is customary to distinguish a dystrophic concept, which considers primary open-angle glaucoma as a result of dystrophic changes in the connective tissue, as well as in the endothelial lining of the trabeculae and Schlemm′s canal, especially destructive changes in mitochondria and the alteration of their functional activity. A vascular concept is also distinguished. According to this concept, the central link in the pathogenesis of glaucoma is circulatory disorder in the ciliary vessels, ocular artery, and major vessels of the head and neck, it can be assumed that osteopathic correction in the treatment of patients with open-angle glaucoma will be pathogenetically substantiated and will have a positive effect on intraocular pressure and trophicity of the optic nerve. The goal of research — to study the influence of in osteopathic correction on the nature of unoperated glaucoma (stage IIA) and to substantiate the possibility of using osteopathic correction in the complex treatment of patients with this pathology.Materials and methods. A prospective controlled randomized study was conducted at 52 city polyclinics, branch 3, Moscow, from January 2018 to January 2019. 40 patients (70 eyes) aged 50 to 75 years with primary open-angle glaucoma IIA stage were examined. At this stage of the disease, patients most often seek medical care and the issue of conservative management is primarily considered. All patients were divided into two groups of 20 people: the main group and the control group. The treatment in the main group included hypotensive drug therapy and osteopathic correction. Patients of the control group received only drug therapy. All patients underwent ophthalmic (visometry, tonometry, perimetry) and osteopathic examination twice: before the treatment and after 3 months.Results. For patients with primary open-angle IIA non-operated glaucoma, regional (most often regions of the head, neck, dura mater) and local (abdominal diaphragm, iliac bones, hip and knee joints) somatic dysfunctions were the most typical. In the main group a statistically significant decrease in the frequency and severity of dysfunctions at all levels was stated. Also, in patients receiving osteopathic correction, a significant decrease in the level of intraocular pressure and perimetric indices was noted. In patients of the control group, no reliable changes in these indicators were obtained.Conclusion. The results obtained indicate that osteopathic correction is clinically effective in the complex treatment of patients with primary open-angle II A glaucoma.


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