How genes and everyday exposures affect risk of exfoliation syndrome and glaucoma
Official title: Genetic and Environmental Risk Factors for Exfoliation Syndrome and Glaucoma
Funded at Massachusetts Eye and Ear Infirmary · NIH-11138698 · Data updated 2026-11-12
Looks at whether genetic differences and common exposures like sunlight and coffee change the chance of exfoliation syndrome and related glaucoma for people at risk of vision loss.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Massachusetts Eye and Ear Infirmary NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | September 1, 2011 |
| Project end | June 30, 2027 |
| Funding year | 2025 |
| Award (this year) | $426,396 |
| NIH project number | 5R01EY020928-13 |
| Project ID | NIH-11138698 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are adults with exfoliation syndrome or exfoliation-related glaucoma, people with a family history of these conditions, or those willing to provide blood samples and medical records for genetic and metabolomic testing.
✕Less likely to help
People without risk factors for exfoliation syndrome or glaucoma, or those unwilling to share health information or provide samples, are unlikely to benefit directly from participation.
What this research studies
This project explores why exfoliation syndrome (XFS) and the glaucoma that can follow develop by combining genetic data, blood-based metabolomics, and information about a person’s environment and lifestyle. Researchers analyze known risk genes such as LOXL1 alongside factors like time spent outdoors, UV light exposure, and coffee intake using samples and records from large cohorts and international collaborators. The team uses pre-diagnostic blood samples and clinical data to find biological signals that come before disease and to see how genes and environment interact. The aim is to enable earlier screening, better prevention advice, and new treatment targets.
Why it matters
Potential benefit: If successful, this work could lead to earlier detection, tailored prevention strategies, and new therapies to reduce vision loss from exfoliation syndrome and glaucoma.
How similar studies have gone: Previous research has already linked LOXL1 gene variants and environmental factors like UV exposure and coffee to XFS/XFG risk, and this project builds on those findings by adding metabolomics and larger, multi-center data.
Where this research is happening
-
Massachusetts Eye and Ear Infirmary
Boston, United States Active
Researchers
- Principal investigator: Wiggs, Janey L — Massachusetts Eye and Ear Infirmary
- Study coordinator: Wiggs, Janey L
Related research
Other NIH-funded projects on the same topics.
-
IOP and CSF Pressure in Glaucoma Risk
This grant studies how eye pressure and cerebrospinal fluid pressure together influence glaucoma risk and vision loss.
-
IOP and CSF Pressure Factors in Glaucoma
A patient-focused look at how eye pressure and surrounding fluid pressure may influence glaucoma risk and progression.
-
Smart Eye Emulator to understand glaucoma risk
This project builds a computer 'eye emulator' to explain how eye pressure, blood pressure, age, and race influence glaucoma risk for people with or at risk for open-angle glaucoma.
-
Understanding Eye and Brain Pressure in Glaucoma
This research aims to better understand how pressure inside the eye and around the brain contributes to glaucoma and vision loss.
-
Using a smart eye emulator to understand glaucoma risk factors
This study is looking at what factors might increase the risk of open angle glaucoma, so we can create a smart tool to help doctors better understand who needs more attention and who might not need as much treatment, making it easier for everyone to get the right care.
-
ALS risk factors in a long-term ALS study
A long-term ALS study is looking at which factors may influence disease risk and progression in people living with ALS.
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.