Related Experiment Video
Updated: Jan 9, 2026
07:11
Assessing Early Stage Open-Angle Glaucoma in Patients by Isolated-Check Visual Evoked Potential
Published on: May 25, 2020
6.8K
Exploring the Shared Genetic Architectures Between Primary Open-Angle Glaucoma and Visual Pathway Regions in the
Asma M Aman1,2, Stuart MacGregor1,2, Santiago Diaz-Torres1,2
1QIMR Berghofer, Brisbane, QLD, Australia.
Investigative Ophthalmology & Visual Science
|December 2, 2025
Summary
This study found a genetic link between primary open-angle glaucoma (POAG) and optic chiasm volume, identifying shared genes that may offer new neuroprotective drug targets for glaucoma.
Area of Science:
- Ophthalmology
- Neuroscience
- Genetics
Background:
- Primary open-angle glaucoma (POAG) is a leading cause of irreversible blindness.
- The neurological underpinnings of POAG, particularly its relationship with visual pathways in the brain, remain incompletely understood.
- Identifying genetic links may reveal novel therapeutic targets for neuroprotection.
Purpose of the Study:
- To investigate the genetic relationships between POAG and major visual brain pathways.
- To understand the neurological basis of glaucoma.
- To identify potential neuroprotective drug targets.
Main Methods:
- Genetic correlation and polygenic risk score (PRS) analyses were used to assess relationships between POAG and visual pathway volumes.
- Mendelian randomization (MR) was employed to infer causal relationships.
- Genome-wide association study (GWAS)-pairwise analysis and summary data-based MR (SMR) identified shared genomic segments and causal genes.
Main Results:
- A significant genetic correlation was observed between POAG and optic chiasm (OC) volume.
- Polygenic risk scores indicated an association between OC volume and POAG risk.
- GWAS-pairwise and SMR analyses identified shared genetic loci, including the CDKN2 gene family region, and potential causal genes (e.g., PHETA1, MAPKAPK5-AS1, EEF1AKMT2).
Conclusions:
- There is a genetic overlap between POAG and visual pathway volumes, specifically the optic chiasm.
- Shared candidate causal genes were identified, suggesting a potential role in glaucoma etiology.
- These findings highlight potential avenues for developing neuroprotective therapies for POAG.
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