A new study may lead to improved screening tools for Fuchs’ endothelial corneal dystrophy.
Researchers from 16 collaborating study sites compared data from more than 5,417 patients, 2,075 of whom were diagnosed with Fuchs’ endothelial corneal dystrophy (FECD), and found new associations between three regions of genetic code, or loci, and the disorder: KANK4, LAMC1 and ATP1B1. They also confirmed the significance of TCF4, which earlier studies have linked to FECD.
To study the genes, investigators used corneal tissue from deceased patients, as well as the part of the cornea removed during the transplant procedure in living patients. Immunohistochemistry provided a look at protein expression in the tissue of the living patients.
Taken together, the four loci can predict the risk of FECD with an accuracy of roughly 78%, according to the study. Given no screening tools current exist for FECD, the findings may go a long way to helping clinicians one day better identify patients at risk.
One of the most significant findings, according to the investigators, is that variants of LAMC1 present a significantly higher risk of FECD among women, while TCF4 variants mean a greater risk in men.
These findings hold promise for both better diagnostics and therapeutics for FECD in the future, and ODs should keep an eye on where this research leads.
“While recent advances in transplantation have drastically improved surgical outcomes for Fuchs’ dystrophy, by identifying a genetic basis for the condition, we are able to look toward preventative, rather than curative, management,” says Stephanie Fromstein, OD, assistant professor at the Illinois College of Optometry. “We can move toward in-office testing for those at risk of the condition, as with other point-of-care tests for macular degeneration and Sjögren’s. In-office genetic testing would allow us to identify those at risk much sooner and be more proactive—and successful—in managing their symptoms.”
|Afshari NA, Igo RP, Morris NJ, et al. Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy. Nature Communications. 2017;8:14898.|