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Related Concept Videos

Glaucoma: Overview01:25

Glaucoma: Overview

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...
Open Angle Glaucoma: Treatment01:27

Open Angle Glaucoma: Treatment

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.
Drugs such as carbonic anhydrase inhibitors, α2- and...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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Angle Closure Glaucoma: Treatment01:28

Angle Closure Glaucoma: Treatment

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...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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 4, 2026

Laser Capture Microdissection of Highly Pure Trabecular Meshwork from Mouse Eyes for Gene Expression Analysis
13:47

Laser Capture Microdissection of Highly Pure Trabecular Meshwork from Mouse Eyes for Gene Expression Analysis

Published on: June 3, 2018

Copy number variations and primary open-angle glaucoma.

Lea K Davis1, Kacie J Meyer, Emily I Schindler

  • 1Department of Psychiatry, University of Illinois, Chicago, Illinois, USA.

Investigative Ophthalmology & Visual Science
|February 12, 2011
PubMed
Summary
This summary is machine-generated.

Rare copy number variations (CNVs) are implicated in primary open-angle glaucoma (POAG), a leading cause of age-related blindness. This study identified 11 rare CNVs in POAG patients, suggesting their role in disease development.

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Last Updated: Jun 4, 2026

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Assessing Early Stage Open-Angle Glaucoma in Patients by Isolated-Check Visual Evoked Potential
07:11

Assessing Early Stage Open-Angle Glaucoma in Patients by Isolated-Check Visual Evoked Potential

Published on: May 25, 2020

Area of Science:

  • Genetics
  • Ophthalmology
  • Genomic Medicine

Background:

  • Age-related blindness poses a significant public health challenge.
  • Primary open-angle glaucoma (POAG) is a leading cause of irreversible blindness.
  • The genetic underpinnings of POAG, particularly rare variants, require further investigation.

Purpose of the Study:

  • To investigate the role of rare copy number variation (CNV) in primary open-angle glaucoma (POAG).
  • To identify specific CNVs associated with POAG in a large cohort.
  • To explore the functional relevance of identified CNVs in ocular tissues.

Main Methods:

  • Whole-genome copy number screening in 400 POAG patients and 500 controls.
  • Utilized two microarray platforms for CNV detection.
  • Analyzed data using multiple CNV detection programs (CNAG, PennCNV, dChip).

Main Results:

  • Identified 11 recurrent, rare CNVs in the POAG cohort, absent in controls.
  • CNVs located at 5q23.1, 20p12, 12q14, 12p13.33, and 10q34.21 were notable.
  • Expression data supported the involvement of CNV-implicated genes in vision.
  • CNV locations for DMXL1 and PAK7 overlapped with known glaucoma linkage regions.

Conclusions:

  • Rare CNVs are associated with primary open-angle glaucoma.
  • These findings support the hypothesis that rare CNVs contribute to POAG development.
  • Identified CNVs represent potential novel genetic factors in POAG pathogenesis.