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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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At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category,...
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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 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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Genetic Risk for Open-Angle Glaucoma Subtypes Is Associated with Specific Visual Field Defect Classes.

Sayuri Sekimitsu1, Kavin Selvan2, Yan Zhao3

  • 1Department of Ophthalmology, Tufts University School of Medicine, Boston, Massachusetts; Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts.

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|April 13, 2025
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Summary

Higher genetic risk for primary open-angle glaucoma (POAG) and normal-tension glaucoma (NTG) is linked to paracentral visual field loss. Conversely, higher genetic risk for high-tension glaucoma (HTG) is associated with total visual field loss, not paracentral defects.

Keywords:
Genetic riskGlaucomaPolygenic riskVisual field

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Area of Science:

  • Ophthalmology
  • Genetics
  • Medical Research

Background:

  • Glaucoma, a leading cause of irreversible blindness, is characterized by progressive optic nerve damage and visual field (VF) loss.
  • Understanding the genetic underpinnings of glaucoma subtypes and their associated VF patterns is crucial for diagnosis and prognosis.

Purpose of the Study:

  • To investigate the associations between genetic risk scores and specific visual field (VF) archetypes in open-angle glaucoma (OAG) and its subtypes: high-tension glaucoma (HTG) and normal-tension glaucoma (NTG).

Main Methods:

  • A cross-sectional, population-based study utilizing VF data from 11,572 OAG patients and genotyping data from 1,517 primary open-angle glaucoma (POAG) patients.
  • Calculation of POAG, NTG polygenic risk scores (PRS), and HTG genetic risk scores (GRS) from genome-wide association studies.
  • Logistic regression analysis to assess the correlation between genetic risk scores and identified VF archetypes.

Main Results:

  • Nine distinct VF archetypes were identified, including normal, paracentral, peripheral, and total loss patterns.
  • Increased POAG PRS and NTG PRS were significantly associated with higher odds of paracentral and peripheral VF defects.
  • Increased HTG GRS was associated with lower odds of paracentral and peripheral defects, and higher odds of total VF loss (though not significant in adjusted models).

Conclusions:

  • Genetic predisposition for POAG and NTG is linked to specific patterns of paracentral visual field loss.
  • Genetic risk for HTG is associated with total visual field loss.
  • These genotype-VF phenotype associations can inform glaucoma diagnosis and prognostication strategies.