scholarly journals Copy Number Variations and Primary Open-Angle Glaucoma

2011 ◽  
Vol 52 (10) ◽  
pp. 7122 ◽  
Author(s):  
Lea K. Davis ◽  
Kacie J. Meyer ◽  
Emily I. Schindler ◽  
John S. Beck ◽  
Danielle S. Rudd ◽  
...  
Keyword(s):  
Copy Number ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Copy Number Variations ◽  
Open Angle

scholarly journals Copy Number Variations of TBK1 in Australian Patients With Primary Open-Angle Glaucoma

2015 ◽  
Vol 159 (1) ◽  
pp. 124-130.e1 ◽  
Author(s):  
Mona S. Awadalla ◽  
John H. Fingert ◽  
Benjamin E. Roos ◽  
Simon Chen ◽  
Richard Holmes ◽  
...  
Keyword(s):  
Copy Number ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Copy Number Variations ◽  
Open Angle

scholarly journals DNA Copy Number Variants of Known Glaucoma Genes in Relation to Primary Open-Angle Glaucoma

2014 ◽  
Vol 55 (12) ◽  
pp. 8251-8258 ◽  
Author(s):  
Y. Liu ◽  
M. E. Garrett ◽  
B. L. Yaspan ◽  
J. C. Bailey ◽  
S. J. Loomis ◽  
...  
Keyword(s):  
Copy Number ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Copy Number Variants ◽  
Open Angle ◽  
Dna Copy Number ◽  
Dna Copy Number Variants

scholarly journals MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
María I. Canut ◽  
Olaya Villa ◽  
Bachar Kudsieh ◽  
Heidi Mattlin ◽  
Isabel Banchs ◽  
...  
Keyword(s):  
Ocular Hypertension ◽  
Copy Number ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Beta Blockers ◽  
Copy Number Variants ◽  
Mediterranean Population ◽  
Open Angle ◽  
Dna Pooling ◽  
Pharmacological Response

AbstractPredicting the therapeutic response to ocular hypotensive drugs is crucial for the clinical treatment and management of glaucoma. Our aim was to identify a possible genetic contribution to the response to current pharmacological treatments of choice in a white Mediterranean population with primary open-angle glaucoma (POAG) or ocular hypertension (OH). We conducted a prospective, controlled, randomized, partial crossover study that included 151 patients of both genders, aged 18 years and older, diagnosed with and requiring pharmacological treatment for POAG or OH in one or both eyes. We sought to identify copy number variants (CNVs) associated with differences in pharmacological response, using a DNA pooling strategy of carefully phenotyped treatment responders and non-responders, treated for a minimum of 6 weeks with a beta-blocker (timolol maleate) and/or prostaglandin analog (latanoprost). Diurnal intraocular pressure reduction and comparative genome wide CNVs were analyzed. Our finding that copy number alleles of an intronic portion of the MLIP gene is a predictor of pharmacological response to beta blockers and prostaglandin analogs could be used as a biomarker to guide first-tier POAG and OH treatment. Our finding improves understanding of the genetic factors modulating pharmacological response in POAG and OH, and represents an important contribution to the establishment of a personalized approach to the treatment of glaucoma.

scholarly journals Genome-wide CNV investigation suggests a role for cadherin, Wnt, and p53 pathways in primary open-angle glaucoma

BMC Genomics ◽  
2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Valeria Lo Faro ◽  
Jacoline B. ten Brink ◽  
Harold Snieder ◽  
Nomdo M. Jansonius ◽  
Arthur A. Bergen
Keyword(s):  
Association Analysis ◽  
Pathway Analysis ◽  
Molecular Mechanisms ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Copy Number Variations ◽  
Open Angle ◽  
Case Control Studies ◽  
Functional Studies ◽  
Genome Wide

Abstract Background To investigate whether copy number variations (CNVs) are implicated in molecular mechanisms underlying primary open-angle glaucoma (POAG), we used genotype data of POAG individuals and healthy controls from two case-control studies, AGS (n = 278) and GLGS-UGLI (n = 1292). PennCNV, QuantiSNP, and cnvPartition programs were used to detect CNV. Stringent quality controls at both sample and marker levels were applied. The identified CNVs were intersected in CNV region (CNVR). After, we performed burden analysis, CNV-genome-wide association analysis, gene set overrepresentation and pathway analysis. In addition, in human eye tissues we assessed the expression of the genes lying within significant CNVRs. Results We reported a statistically significant greater burden of CNVs in POAG cases compared to controls (p-value = 0,007). In common between the two cohorts, CNV-association analysis identified statistically significant CNVRs associated with POAG that span 11 genes (APC, BRCA2, COL3A1, HLA-DRB1, HLA-DRB5, HLA-DRB6, MFSD8, NIPBL, SCN1A, SDHB, and ZDHHC11). Functional annotation and pathway analysis suggested the involvement of cadherin, Wnt signalling, and p53 pathways. Conclusions Our data suggest that CNVs may have a role in the susceptibility of POAG and they can reveal more information on the mechanism behind this disease. Additional genetic and functional studies are warranted to ascertain the contribution of CNVs in POAG.

Clinical efficacy of osteopathic correction in the complex treatment of patients with unoperated open-angle glaucoma

2020 ◽  
pp. 97-105
Author(s):  
E. N. Simakova ◽  
O. V. Stenkova
Keyword(s):  
Intraocular Pressure ◽  
Drug Therapy ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Randomized Study ◽  
Main Group ◽  
Control Group ◽  
Open Angle ◽  
Complex Treatment ◽  
Hypotensive Drug

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.

Detection of specific proteins in the aqueous humor in primary open-angle glaucoma

1990 ◽  
Vol 4 (1) ◽  
pp. 1 ◽  
Author(s):  
In Seop Lee ◽  
Young Suk Yu ◽  
Dong Myung Kim ◽  
Dong Ho Youn ◽  
Jin Q Kim
Keyword(s):  
Aqueous Humor ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Open Angle ◽  
Specific Proteins
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