The role of rs2075575 polymorphism of the aquaporin 4 gene in the development of primary open-angle glaucoma

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.


2019 ◽  
Vol 76 (8) ◽  
pp. 822-829
Author(s):  
Vesna Maric ◽  
Vujica Markovic ◽  
Marija Bozic ◽  
Ivan Marjanovic ◽  
Paraskeva Hentova-Sencanic ◽  
...  

Background/Aim. Trabeculectomy is a safe procedure which effectively reduces the intraocular pressure (IOP). IOP is the most frequent indicator of success after glaucoma surgery. The aim of this work was to evaluate the long-term pressure control in primary open-angle glaucoma (POAG) and in pseudoexfoliative glaucoma (XFG) after primary trabeculectomy without the use of mitomycin-C (MMC), 3 to 5 years after trabeculectomy. Methods. This study involved a retrospective evaluation of 332 consecutive patients (352 eyes), 174 patients (188 eyes) with POAG (mean age of 64.0 ? 8.6 years) and 158 patients (164 eyes) with XFG (mean age of 70.7 ? 8.9 years) who underwent primary trabeculectomy between January 2007 and December 2009 at the Clinic for Eye Diseases, Clinical Center of Serbia in Belgrade. A successful control of IOP was defined as achieving IOP ? 21 mmHg without medication (complete success), or with a single topical medication (qualified success). Results. According to the type of glaucoma POAG/XFG preoperative IOP was 28.4 ? 6.3/30.4 ? 8.4 mmHg, respectively (p = 0.311) and last postoperative IOP was 16.9 ? 5.2/18.7 ? 5.9 mmHg, respectively (p = 0.681). According to the Kaplan-Meier survival curve, the complete success in the group with POAG in 1, 3 and 5 years were 85%, 75% and 58% and in the group with XFG were 82%, 70% and 56%, respectively. There was no statistically significant difference in the complete success rates between the patients with POAG and XFG. Conclusion. The primary goal of surgery was to achieve a sufficiently low IOP without additional medication, thus preventing progression of glaucomatous damage. In our study, the complete success in the group with POAG was achieved in 75% and 58% of the patients in the period of 3 and 5 years after surgery, respectively and in the group with XFG complete success was achieved in 70% and 56% of the patients respectively.


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.


The Eye ◽  
2019 ◽  
Vol 125 (2019-1) ◽  
pp. 6-12
Author(s):  
Irina Gndoyan ◽  
Natalya Kuznetsova ◽  
Alexander Derevyanchenko

Purpose: To determine the role that progressive spectacle lenses play in intraocular pressure compensation and stabilization of the glaucomatous process in patients with primary open-angle glaucoma (POAG) combined with presbyopia and refractive errors. Material and methods. 29 patients (53 eyes) aged 43 to 67 years with I-II stage POAG and a certain type of refractive error were enrolled into study. All patients had intraocular pressure (IOP) compensated to the target level on medication. Patients of the main group (17 people, 32 eyes) used universal progressive spectacle lenses with optimized surface. The patients of the control group (12 people, 21 eyes) used separate monofocal glasses for near and distance vision as a method of ametropia correction. Visual acuity test, refractometry, pneumotonometry, tonography, automated static perimetry were applied for monitoring the patients. The measurements were taken before spectacle correction and a year after its prescription. Results. A decrease of IOP (p=0.01) and an increase of the aqueous humor outflow coefficient (p<0.01) were determined after one year use of the recommended type of vision correction in the main group, whereas in the control group there was an increased level of IOP (p<0.05) and a reduced aqueous humor outflow coefficient (p<0.2). Conclusion. The use of progressive spectacle lenses as a method of permanent vision correction reliably reduces IOP and improves the aqueous humor outflow in patients with early-stage POAG. The absence of negative visual field dynamics indicates the stabilization of the glaucomatous process.


Author(s):  
Olha V. Levytska ◽  
Igor Ya. Novytskyy

Hypotensive effect of endotrabeculectomy was compared with that of selective laser trabeculoplasty in patients with primary open-angle glaucoma (POAG). We evaluated 44 patients (44 eyes) with POAG. In the first group (23 patients), endotrabeculectomy (trabecular ablation through the angle of anterior chamber) was performed, and in the second group (21 patients) the patients underwent selective laser trabeculoplasty. When comparing the intraocular pressure (IOP), it was found that the difference between preoperative and postoperative IOP was significant up to 6 months of follow-up in both groups (p < 0.05), however, hypotensive effect in the first group was more pronounced (7.58 vs. 1.55 mmHg, respectively). When comparing the number of hypotensive medications used before and after glaucoma surgery, it was found that the difference in patients of the first group was significant throughout the observation period (p = 0.028), while in patients of the second group there was no significant difference from the 3rd month of observation. The number of topical drugs to reduce IOP decreased by 1.44 in the first group (p < 0.05) and by 0.33 in the second group (p = 0.109). Endotrabeculectomy, as well as selective laser trabeculoplasty, showed significant hypotensive effect in patients with POAG within 6 months of observation, however, hypotensive effect of endotrabeculectomy significantly overweighted that of SLT. Keywords: endotrabeculectomy, selective laser trabeculoplasty, intraocular pressure, primary open-angle glaucoma.


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”.


Author(s):  
S. Kavuncu ◽  
H. H. Erbil

Objective: The aim of this study is to compare the efficacy of the trabeculectomy in controlling intraocular pressure in patients with primary open-angle and pseudo-exfoliation glaucoma. Materials and Methods: The medical data of a sum of 69 eyes of which 36 (52,2%) with primary open angle glaucoma (POAG) and 33 (47,8%) with pseudo-exfoliation (PEG), who have medically uncontrolled glaucoma and had undergone primary trabeculectomy in Göztepe Education and Research Hospital were evaluated in this retrospective study. Postoperatively, data at the first day, at the first month, and at the last examination evaluated in the study. Success of the surgery is defined as measurement of intraocular pressure under 21 mmHg with (incomplete success) or without (complete success) additional medications following the end of the first year follow-up examinations. Results: POAG group consists of 36 patients of which 16 male, 20 female and PEG group consists of 33 patients of which 21 male and 12 female. The mean age was 67.2±9.1 (42-80) years in POAG group and 70.7±6.6 (55-80) years in PEG group. There was no statistically significant difference between POAG and PEG groups in visual acuity, mean intraocular pressure, c/d ratio and the number of antiglaucomatous medications preoperatively and postoperatively (p>0.05). There was a statistically significant difference in groups between post and preoperative values in visual acuity, mean intraocular pressure, c/d ratio and the number of antiglaucomatous medications (p<0.05) Success of the trabeculectomy was 41,7% (complete success), 41,7% (incomplete success) and remaining 16,6% was unsuccessful, in POAG group and success rate in PEG group was 51.5%, 27,3% and 21,2% respectively. There was no statistically significant difference between groups (p=0.738). Conclusion: Trabeculectomy is an effective surgery in lowering intraocular pressure in both of the study groups equally.


2019 ◽  
Vol 12 (1) ◽  
pp. 25-28
Author(s):  
Sayaka Sultana ◽  
Nazneen Khan ◽  
Chonchol Kumar Ghosh ◽  
Ahmed Abu Saleh ◽  
Md. Shafiqul Islam

The pathological processes of primary open-angle glaucoma is unknown. Several studies show the relation between Helicobacter pylori infection and primary open-angle glaucoma. The purpose of this study was to assess the association between H. pylori infection and primary open-angle glaucoma. Forty patients of diagnosed primary open-angle glaucoma were selected as case and 40 participants without primary open-angle glaucoma were selected as control as per inclusion and exclusion criteria. Complete clinical evaluation including history, physical examination, relevant ocular examinations and laboratory investigations were performed. Serologic evidence of H. pylori infection was found in 75% of patients with primary open-angle glaucoma and 30% of patients without primary open-angle glaucoma which achieved statistically significant difference (p=0.000, OR=7.00 and CI 95% =2.61-18.74). 13C urea breath test was positive in 70% in case group and 37.5% in control group which also achieved statistically significant difference  (p=0.003, OR=3.89 and CI 95% =1.53-9.87). The findings revealed significant association between H. pylori infection and primary open-angle glaucoma.  


2021 ◽  
Author(s):  
Elshimaa A.Mateen ◽  
Hatem Gamal Ammar ◽  
Khulood Muhammad Sayed

Abstract Purpose: To evaluate specular microscopic changes of corneal endothelial cells (CEC) count and morphology in correlation to retinal nerve fiber layer RNFL changes detected by visual field (VF) and OCT in early and advanced primary open-angle glaucoma (POAG).Methods: A prospective observational comparative study was conducted on patients with POAG versus non-glaucomatous patients of the same age group. Specular microscopy, VF test, OCT scans of RNFL, and macular ganglion cell complex (GCC) were performed. Glaucoma group was further subdivided into early and advanced stages.Results: The study included 130 eyes of 130 subjects, 70 were eyes with POAG (glaucoma group), 60 were healthy eyes (control group). Both groups were comparable regarding mean age and sex.In the early glaucoma group, a significant negative correlation was found between the coefficient of variation (CV%) and superior PRNFL thickness (r=-0.5, p-value=0.018). A significant negative correlation was also found between percentage of cellular hexagonality (HEX%) and vertical cup/disc (C/D) ratio (r=-0.43, p-value= 0.035). A significant positive correlation was found between HEX% and (superior, inferior) PRNFL thickness (r=0.53, 0.5 and p-value= 0.008, 0.015) respectively.Mean CEC count was significantly lower in the advanced glaucoma group than in the control group (2958.7±371.2 vs 3085±172.5, p value=0.043). Conclusions: CEC is affected by chronic intraocular pressure (IOP) elevation just like the PRNFL and macular GCC. CEC morphology is insulted in the early stages of POAG while the count can withstand chronic IOP elevation till advanced stages were both are affected.


2020 ◽  
Author(s):  
Xiangxiang Ye ◽  
Yongjun Qi ◽  
Jianhua Deng ◽  
Yang Yang ◽  
Ting Mo ◽  
...  

Abstract Background: To investigate the safety and efficacy of scleral concave pool trabeculectomy (SCPT) combined phacoemulsification for eyes with coexisting cataract and primary open-angle glaucoma (POAG).Methods: This was a retrospective, controlled, interventional case series. Thirty patients (30 eyes) were diagnosed with coexisting cataract and POAG between May 2015 and April 2018. Fourteen eyes underwent SCPT combined phacoemulsification were set as the study group, and 16 eyes received conventional phacotrabeculectomy were set as the control group. All patients were followed up for at least 6 months. The preoperative to postoperative changes in IOP, glaucoma medication requirements, BCVA, blebs functions, and adverse events were recorded. Results: The groups were matched for baseline age, BCVA, IOP and types of IOP-lowering medications (all P>0.05). At 6-month visit, there were no significant difference between control and study group in the improvement of BCVA (0.22±0.24 versus 0.18±0.26, P=0.718), reduction of IOP (-11.21±8.61mmHg versus -9.19±9.18mmHg, P=0.540) and the number of eyes that needed IOP-lowering medications (2 versus 3, P=0.743). At the last visit, the rate of forming functioning blebs was significantly different between the study and control groups, (92.9% versus 68.7% respectively, P=0.007). In the study group, 5 eyes developed hypotony,and 1 eye showed limited choroidal detachment, whereas in the control group 1 eye developed malignant glaucoma. All adverse events were successfully managed. Conclusion: The SCPT combined phacoemulsification is a safe and effective alternative to conventional phacotrabeculectomy for patients with POAG and visually significant cataract.


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