scholarly journals Role of Major Histocompatibility Complex Genes in the Susceptibility and Protection of Primary Open Angle Glaucoma and Primary Congenital Glaucoma

2021 ◽  
Vol 15 (1) ◽  
pp. 151-155
Author(s):  
Félix Gil-Carrasco ◽  
Marla Alvarez-Padilla ◽  
Susana Hernández-Doño ◽  
José Ponce-Coria ◽  
Rafael García-Silva ◽  
...  
Keyword(s):  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Congenital Glaucoma ◽  
Specific Primers ◽  
Mexican Mestizo ◽  
Primary Congenital Glaucoma ◽  
Histocompatibility Complex ◽  
Prevalent Disease ◽  
Mexican Mestizo Population

Introduction: Glaucoma is a prevalent disease seen in the Ophthalmology department that includes a group of neurodegenerative eye pathologies associated with total loss of vision. It is known for its clinical diversity and secondary to this, it is assumed that multiple genes play a role in its pathogenesis. Among these, those that regulate the immune response which includes the HLA genes are of particular interest because they have been associated with a subgroup of glaucoma patients known as Primary Open Glaucoma. Methods: In this study, we studied 3 different groups of patients with glaucoma in whom HLA alleles were determined by sequence-specific primers (SSP) technique. Results: An association of HLA-DRB1*16 was found with the susceptibility to develop Primary Congenital Glaucoma. In addition, HLA-DRB1*14 was associated with glaucoma without angular dysgenesis, and HLA-DRB1*03 to glaucoma with iridocorneal dysgenesis. Conclusion: In conclusion, the data obtained allow us to suggest that glaucoma is a clinical and genetically heterogeneous disease in which one of the subgroups has an autoimmune mechanism in which the Mexican mestizo population shows genetic susceptibility and it differs from POAG with angular dysgenesis and POAG without dysgenesis.

scholarly journals Detection and characterisation of optic nerve and retinal changes in primary congenital glaucoma using hand-held optical coherence tomography

2019 ◽  
Vol 4 (1) ◽  
pp. e000194
Author(s):  
Anastasia V Pilat ◽  
Sonal Shah ◽  
Viral Sheth ◽  
Ravi Purohit ◽  
Frank A Proudlock ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Optic Nerve ◽  
Young Children ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
High Sensitivity ◽  
Congenital Glaucoma ◽  
Optical Coherence ◽  
External Limiting Membrane ◽  
Primary Congenital Glaucoma

ObjectiveTo investigate (1) the feasibility of scanning the optic nerve (ON) and central retina with hand-held optical coherence tomography (HH-OCT) without sedation or anaesthesia in primary congenital glaucoma (PCG), (2) the characteristics of ON changes in comparison with adult primary open-angle glaucoma (POAG) in comparison with matched controls, (3) the sensitivity and specificity of ON parameters for diagnosis, and (4) changes of foveal morphology.Methods and analysisHH-OCT (Envisu 2300; Leica Microsystems) was used to investigate ON and foveal morphology of 20 children with PCG (mean age 4.64±2.79) and 10 adult patients with POAG (mean age 66.8±6.94), and compared with age-matched, gender-matched and ethnicity-matched healthy controls without sedation or anaesthesia.ResultsHH-OCT yielded useful data in 20 out of 24 young children with PCG. Patients with PCG had significantly deeper cup changes than patients with POAG (vs respective age-matched controls, p=0.014). ON changes in PCG are characterised by significant increase in cup depth (165%), increased cup diameter (159%) and reduction in rim area (36.4%) as compared with controls with high sensitivity (81.5, 74.1% and 88.9%, respectively) and specificity (85.0, 80.0% and 75.0%, respectively). Patients with PCG have a significantly smaller width of the macula pit (p<0.001) with non-detectable external limiting membrane.ConclusionHH-OCT has the potential to be a useful tool in glaucoma management for young children. We have demonstrated the use of HH-OCT in confirming a diagnosis of glaucoma within the studied cohort and found changes in disc morphology which characterise differently in PCG from POAG.

Genetic variants of CYP1B1 and WDR36 in the patients with primary congenital glaucoma and primary open angle glaucoma from saint-Petersburg

2009 ◽  
Vol 45 (12) ◽  
pp. 1467-1474 ◽  
Author(s):  
A. E. Motushchuk ◽  
T. Yu. Komarova ◽  
N. A. Grudinina ◽  
V. V. Rakhmanov ◽  
M. Yu. Mandelshtam ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Congenital Glaucoma ◽  
Open Angle ◽  
Primary Congenital Glaucoma ◽  
Saint Petersburg

Immunogenetic Aspects in Primary Open-angle Glaucoma in Family Members of Mexican Mestizo Glaucomatous Patients

1994 ◽  
Vol 118 (6) ◽  
pp. 744-748 ◽  
Author(s):  
Felix Gil-Carrasco ◽  
Julio Granados ◽  
Everardo Barojas-Weber ◽  
M. Eugenia Gilbert-Lucido ◽  
Gilberto Vargas-Alarcón
Keyword(s):  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Family Members ◽  
Open Angle ◽  
Mexican Mestizo

scholarly journals GSTs (T1 and M1) population data in patients with glaucoma: genetic screening and ethical aspects

2019 ◽  
pp. 18-23
Author(s):  
Ferreri F.M.B ◽  
Sapienza D
Keyword(s):  
Oxidative Stress ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Gene Families ◽  
Dna Polymorphisms ◽  
Congenital Glaucoma ◽  
Antioxidant Systems ◽  
Italian Population ◽  
Open Angle ◽  
Healthy Individuals

Background and Aim: Molecular epidemiology is an interdisciplinary field concerning the analysis of biological indicators and the investigation of individual DNA polymorphisms. The glutathione-S-transferases (GSTs) are one of the most studied metabolic gene families. They are involved in the genesis of oxidative stress and many authors hypothesize that some null polymorphic variants determine increasing toxic effects in tissues. Oxidative stress and antioxidant systems are very important in the onset and progress of glaucoma, one of the leading causes of blindness worldwide. We investigate the association of null variant of GST (M1 and T1) with the risk of primary open angle glaucoma (POAG) and we considered the ethical and legal implications of genetic procedures as a screening tool. Materials and Methods: We conducted a case-control study including 103 unrelated carriers of glaucoma in a southern Italian population (living in Eastern Sicily) and 150 unrelated healthy individuals as controls, whose buccal swabs samples were genotyped for GST polymorphisms using a standardized multiplex PCR based method. Results: In patients with glaucoma (primary open angle glaucoma, POAG) null genotype of the investigated genetic polymorphisms is very common compared to the healthy individuals. The obtained data suggest an influence of the (dual) null genotype on the normal metabolic pathway in the genesis of congenital glaucoma giving to these polymorphisms the role of so-called “indicators of susceptibility”. Conclusions: We conclude that the increased frequency of null GSTs (M1, T1) in patients with glaucoma could be considered a risk factor for incidence of the disease. Screenings can be carried out only in compliance with legislative rules. Keywords: Glaucoma; Glutathione S-transferase; GSTM1; GSTT1

scholarly journals Role of Fibronectin in Primary Open Angle Glaucoma

Cells ◽  
2019 ◽  
Vol 8 (12) ◽  
pp. 1518 ◽  
Author(s):  
Jennifer A. Faralli ◽  
Mark S. Filla ◽  
Donna M. Peters
Keyword(s):  
United States ◽  
Trabecular Meshwork ◽  
Vision Loss ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
The United States ◽  
Open Angle ◽  
Cell Matrix ◽  
Fibronectin Fibrils

Primary open angle glaucoma (POAG) is the most common form of glaucoma and the 2nd most common cause of irreversible vision loss in the United States. Nearly 67 million people have the disease worldwide including >3 million in the United States. A major risk factor for POAG is an elevation in intraocular pressure (IOP). The increase in IOP is believed to be caused by an increase in the deposition of extracellular matrix proteins, in particular fibronectin, in a region of the eye known as the trabecular meshwork (TM). How fibronectin contributes to the increase in IOP is not well understood. The increased density of fibronectin fibrils is thought to increase IOP by altering the compliance of the trabecular meshwork. Recent studies, however, also suggest that the composition and organization of fibronectin fibrils would affect IOP by changing the cell-matrix signaling events that control the functional properties of the cells in the trabecular meshwork. In this article, we will discuss how changes in the properties of fibronectin and fibronectin fibrils could contribute to the regulation of IOP.

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