“Big Data” Analysis Draws Lines Between XFS, Glaucoma, and Other Diseases

  • Research in Brief
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abnormal fibrous material building up in an eye with exfoliation syndrome
This close-up image shows abnormal fibrous material building up in an eye with exfoliation syndrome (XFS), a condition that can lead to glaucoma. (Courtesy of Karen Curtin, PhD)

What: Big data analysis reveals common comorbidities and risk factors that exfoliation syndrome (XFS) shares with other medical conditions.

Where: Pompovo C, et al. Summary of Utah Project on Exfoliation Syndrome (UPEXS): Using a Large Database to Identify Systemic Comorbidities. British Medical Journal Open Ophthalmology. 2021.

BrightFocus Connection: This project was funded in part by a National Glaucoma Research (NGR) grant to authors Karen Curtin, PhD (principal investigator) and Barbara Wirostko, MD (co-principal investigator) of the University of Utah.

Why It Is Important: In people with exfoliation syndrome (XFS), abnormal protein material builds up in the drainage system and other parts of the eye, which can impede drainage and raise intraocular pressure. When untreated, XFS can lead to glaucoma and potentially blindness.

XFS tends to cluster in families, and in previous research, XFS has been associated with small anomalies (single nucleotide polymorphisms, or SNPs) on the LOXL-1 gene, which regulates elastin (eg, elastic fiber) synthesis in humans. This has led researchers to look for possible associations between XFS and related comorbidities involving elastin metabolisms, such as chronic obstructive pulmonary disease, inguinal hernias, pelvic organ prolapse, sleep apnea, and a heart disorder known as atrial fibrillation.

In their research, Drs. Curtin and Wirostko and colleagues are harnessing the power of a very large database of medical records, the Utah Population Database (UPDB) to see if they can crosslink XFS with common comorbidities and shared risk factors as a way of predicting which patients are at greatest risk of XFS and glaucoma.

The UPDB contains the medical history and records of more than 11 million people who now or previously lived in Utah, along with medical records of their ancestors dating back to the 1700s. There is information about their family relationships, their genetics, and their health over time.

In this review article about their project, Drs. Curtin, Wirostko, and coauthors describe how XFS has been associated with other conditions reflecting elastin abnormalities.

Ahead, these researchers intend to use the UPDB to identify additional clinical conditions that people with XFS tend to develop over time and use that to further associate any relevant personal or medical histories with the development of XFS. The goal is to prevent blindness, both by predicting and treating XFS earlier in patients and by predicting which XFS patients are most likely to develop glaucoma. Ideally, doctors will use the information to tailor treatments to each patient’s specific situation. In addition, the results of this project may impact other diseases by identifying risk factors, environmental factors, and demographics that XFS shares

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