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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

Open Angle Glaucoma: Treatment

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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.
Drugs such as carbonic anhydrase inhibitors, α2- and...
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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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When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
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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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Human Genetics01:28

Human Genetics

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
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Assessing Early Stage Open-Angle Glaucoma in Patients by Isolated-Check Visual Evoked Potential
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Attitudes Towards Polygenic Risk Testing in Individuals with Glaucoma.

Georgina L Hollitt1, Owen M Siggs1, Bronwyn Ridge1

  • 1Department of Ophthalmology, Flinders University, Flinders Medical Centre, Bedford Park, Australia.

Ophthalmology. Glaucoma
|November 14, 2021
PubMed
Summary

Patients show strong interest in polygenic risk scores (PRS) testing for primary open-angle glaucoma (POAG). This genetic testing can help predict glaucoma risk and severity, aiding early intervention to prevent vision loss.

Keywords:
AttitudeGenetic testingGlaucomaPOAGPolygenic risk score

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Area of Science:

  • Ophthalmology
  • Genetics
  • Public Health

Background:

  • Glaucoma is a leading cause of irreversible blindness globally.
  • Early detection and treatment are crucial for preventing vision loss.
  • Polygenic risk scores (PRS) show potential for stratifying risk in primary open-angle glaucoma (POAG).

Purpose of the Study:

  • To assess patient attitudes towards polygenic risk score (PRS) testing for primary open-angle glaucoma (POAG).
  • To understand factors influencing patient interest in PRS testing for glaucoma.
  • To inform the clinical integration of PRS testing in glaucoma management.

Main Methods:

  • A cross-sectional, questionnaire-based study was conducted.
  • 2369 adults with POAG were invited from the Australian and New Zealand Registry of Advanced Glaucoma.
  • 1169 participants (49% response rate) completed the survey on attitudes towards PRS testing.

Main Results:

  • A significant majority (69.4%) expressed keen interest in PRS testing had it been available before diagnosis.
  • Interest was higher among individuals from urban areas, those perceiving higher personal risk, and those worried about developing glaucoma.
  • Interest in PRS testing correlated with a likelihood to change eye health-seeking behaviors and recommend testing to others.

Conclusions:

  • Patient interest in PRS testing for glaucoma is substantial.
  • Understanding patient perspectives is key for successful clinical implementation of PRS testing.
  • PRS testing has the potential to facilitate early glaucoma detection and reduce irreversible vision loss.