How genes and everyday exposures affect risk of exfoliation syndrome and glaucoma

Genetic and Environmental Risk Factors for Exfoliation Syndrome and Glaucoma

NIH-funded research Massachusetts Eye and Ear Infirmary · NIH-11138698

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 typeR01 grant
Study typeNIH-funded research
Funding institutionMassachusetts Eye and Ear Infirmary NIH-funded
Lab location1 site (Boston, United States)
Project IDNIH-11138698 on NIH RePORTER

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.

Who could benefit from this research

Good fit: 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.

Not a fit: 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.

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 performed: 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

Boston, United States

Researchers

About this research

  1. This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
  2. Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
  3. For full project details, budget, and progress reports, visit the official NIH RePORTER page below.
Last reviewed 2026-06-10 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.