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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...
Genetic Lingo01:11

Genetic Lingo

Overview
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Human Genetics01:28

Human Genetics

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...
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...

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Related Experiment Video

Updated: Jun 13, 2026

Translaminar Autonomous System Model for the Modulation of Intraocular and Intracranial Pressure in Human Donor Posterior Segments
08:55

Translaminar Autonomous System Model for the Modulation of Intraocular and Intracranial Pressure in Human Donor Posterior Segments

Published on: April 24, 2020

Polygenic Risk Impacts Lifetime Risk and Prognosis of Glaucoma.

Eemeli S Tusa1, Max Tamlander1, Samuli Ripatti2

  • 1Institute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki, Helsinki, Finland.

Ophthalmology
|June 11, 2026
PubMed
Summary

A glaucoma polygenic risk score (PRS) effectively identifies individuals at high risk for glaucoma and predicts disease progression. This PRS offers more precise risk assessment than family history alone, supporting its use in personalized screening and management strategies.

Keywords:
GlaucomaPolygenic risk score

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Last Updated: Jun 13, 2026

Translaminar Autonomous System Model for the Modulation of Intraocular and Intracranial Pressure in Human Donor Posterior Segments
08:55

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13:47

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

Published on: June 3, 2018

Area of Science:

  • Ophthalmology
  • Genetics
  • Public Health

Background:

  • Glaucoma is a leading cause of irreversible blindness worldwide.
  • Accurate risk stratification is crucial for early detection and intervention.
  • Polygenic risk scores (PRS) are emerging tools for assessing genetic predisposition to complex diseases.

Purpose of the Study:

  • To benchmark existing glaucoma polygenic risk scores (PRS).
  • To evaluate the clinical utility of the best-performing PRS for glaucoma risk, age at onset, and prognosis.
  • To compare PRS performance against family history for glaucoma risk assessment.

Main Methods:

  • A large cohort study of 402,739 individuals from the FinnGen biobank was analyzed.
  • Fourteen published glaucoma PRS were benchmarked using Cox proportional hazards models.
  • The top-performing PRS was used to assess lifetime glaucoma risk and prognostic outcomes over 20 years.

Main Results:

  • The best glaucoma PRS demonstrated a hazard ratio of 3.32 for glaucoma.
  • Lifetime glaucoma risk varied significantly across PRS categories, from 2.5% to 45.3%.
  • High PRS individuals showed increased need for medication escalation, laser therapy, and surgery compared to low PRS individuals.

Conclusions:

  • A glaucoma PRS effectively stratifies individuals by lifetime risk and prognosis.
  • PRS provides more precise risk assessment than family history alone.
  • PRS-guided strategies may enhance glaucoma screening and management, warranting further clinical implementation studies.