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Angle Closure Glaucoma: Treatment01:28

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Angle-closure glaucoma, or closed-angle glaucoma, is an eye condition where the iris bulges out and blocks the iridocorneal angle, resulting in a buildup of aqueous humor and increased intraocular pressure. Immediate medical attention is necessary due to the sudden onset of symptoms. The treatment for angle-closure glaucoma includes short-term and long-term approaches. Short-term treatment involves using eye drops like pilocarpine to lower intraocular pressure by increasing aqueous humor...
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Glaucoma is an eye condition characterized by increased intraocular pressure that damages the retina and optic nerve, leading to irreversible blindness if left untreated. The human eye has various components, including the cornea, iris, pupil, lens, and optic nerve. Aqueous humor is secreted by the epithelium of the ciliary body in the posterior chamber and flows through the trabecular meshwork and canal of Schlemm, maintaining normal intraocular pressure. The trabecular meshwork and the canal...
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In open-angle glaucoma, the iridocorneal angle remains open, but the trabecular meshwork becomes stiff, slowing down the outflow of aqueous humor. This causes a buildup of aqueous humor in the anterior chamber, leading to a sudden increase in intraocular pressure. The treatment for open-angle glaucoma focuses on reducing the elevated intraocular pressure by either decreasing the secretion of aqueous humor or increasing its outflow.
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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Related Experiment Video

Updated: Dec 27, 2025

Assessing Early Stage Open-Angle Glaucoma in Patients by Isolated-Check Visual Evoked Potential
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Primary Angle Closure Glaucoma-associated Genetic Polymorphisms in Northeast Iran.

Ali Yousefian1, Saeed Shokoohi-Rad1, Mohammad Reza Abbaszadegan2

  • 1Eye Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.

Journal of Ophthalmic & Vision Research
|February 26, 2020
PubMed
Summary

Genetic variants in GLIS3, EPDR1, FERMT2, and CHAT genes are associated with primary angle closure glaucoma (PACG) susceptibility in Iranians. Further research is needed for DPM2-FAM102A.

Keywords:
Primary Angle Closure Glaucomars1258267rs3816415rs736893rs7494379Polymorphism

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Area of Science:

  • Ophthalmology
  • Genetics
  • Population Studies

Background:

  • Primary angle closure glaucoma (PACG) is a significant cause of irreversible blindness worldwide.
  • Genome-wide association studies (GWAS) have identified several genetic loci associated with glaucoma susceptibility.
  • Understanding the genetic basis of PACG in diverse populations is crucial for developing targeted prevention and treatment strategies.

Purpose of the Study:

  • To investigate the association between five specific single nucleotide polymorphisms (SNPs) identified by GWAS and the risk of developing PACG.
  • To evaluate the role of these genetic variants in the northeast Iranian population, a region with a high prevalence of PACG.

Main Methods:

  • A case-control study was conducted with 130 PACG patients and 130 healthy controls from northeast Iran.
  • Genotyping of the selected polymorphic regions was performed using tetra-amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR).
  • Statistical analysis, including logistic regression, was employed to assess the association between the genetic variants and PACG susceptibility.

Main Results:

  • Significant associations were found between PACG susceptibility and four SNPs: rs3816415 (P=0.005), rs736893 (P<0.001), rs7494379 (P<0.001), and rs1258267 (P=0.02).
  • No significant association was observed for the SNP rs3739821.
  • The identified associated variants are located within or near the GLIS3, EPDR1, FERMT2, and CHAT genes.

Conclusions:

  • The studied genetic variants in GLIS3, EPDR1, FERMT2, and CHAT genes contribute to the susceptibility of primary angle closure glaucoma in the Iranian population.
  • The role of the DPM2-FAM102A variants requires further investigation in independent populations.
  • These findings highlight the importance of specific genetic factors in PACG pathogenesis and may inform future genetic screening and risk assessment.