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Related Concept Videos

Glaucoma: Overview01:25

Glaucoma: Overview

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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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Open Angle Glaucoma: Treatment01:27

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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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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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Genome-wide Association Studies-GWAS01:11

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Single Nucleotide Polymorphisms-SNPs01:05

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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: Jun 7, 2025

Laser Capture Microdissection of Highly Pure Trabecular Meshwork from Mouse Eyes for Gene Expression Analysis
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Structural framework to address variant-gene relationship in primary open-angle glaucoma.

Nivedita Singh1, Krishnakumar Kizhatil2, Durairaj Duraikannu3

  • 1Neurobiology, Neurodegeneration, and Repair Laboratory, National Eye Institute, National Institutes of Health, MSC0610, 6 Center Drive, Bethesda, MD 20892, USA.

Vision Research
|November 9, 2024
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Summary

This review outlines a roadmap for understanding primary open-angle glaucoma (POAG) genetics. It integrates Genome-Wide Association Studies (GWAS) and advanced genomics to identify POAG-related genes and regulatory networks.

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Area of Science:

  • Genomics and Ophthalmology
  • Molecular Biology and Genetics

Background:

  • Primary open-angle glaucoma (POAG) causes irreversible vision loss.
  • Genome-Wide Association Studies (GWAS) have identified POAG genetic loci.
  • Exome-Wide Association Studies (ExWAS) and post-GWAS analyses refine understanding of rare variants and pathways.

Purpose of the Study:

  • To provide a comprehensive roadmap for post-GWAS characterization of POAG genes.
  • To integrate current genomic findings for POAG gene identification.
  • To highlight key genetic variants and biological mechanisms in POAG pathogenesis.

Main Methods:

  • Leveraging GWAS, ExWAS, and in silico post-GWAS analyses.
  • Utilizing advanced genomics (ATAC-seq, CUT&RUN, Hi-C) to profile chromatin.
  • Employing eQTL, TWAS, enhancer assays, and in vivo animal models for functional validation.

Main Results:

  • Identification of key genetic variants and pathways implicated in POAG.
  • Pinpointing regulatory elements influencing gene expression in POAG.
  • Elucidating the impact of genetic variants on gene expression and disease risk.

Conclusions:

  • Advanced genomics and functional assays provide a robust framework for POAG genetic research.
  • This roadmap is crucial for identifying genes and regulatory networks in POAG pathogenesis.
  • Further research will enhance understanding and potential therapeutic targets for POAG.