Corneal dystrophy: scientists discover molecular changes occur decades before symptoms

Research from the US could lead to the development of new screening procedures for the disease

green eye
Scientists from the University of Texas Southwestern Medical Center in the US have discovered that the molecular changes that precede Fuchs' endothelial corneal dystrophy (FECD) occur decades before the disease affects a patient’s vision.

The research, which is described in Nucleic Acids Research, involved analysing eye bank samples of corneal tissue and eye tissue collected from FECD patients following surgery.

As well as comparing the tissue of FECD patients with healthy tissue within the eye bank, they discovered six tissue samples within the eye bank that displayed a genetic predisposition for FECD despite having no signs of the disease in the cornea.

The researchers found that when they compared the gene expression patterns of FECD patients with the tissue of those who had a genetic predisposition for the disease, the same molecular changes had occurred.

The FECD patients within the study had an average age of 66.5, while the eye bank sample patients displaying molecular changes were 46.8 years old.

This suggests that molecular changes can occur decades before patients show symptoms of the disease.

University of Texas Southwestern Medical Center’s Professor David Corey highlighted: "It was really a surprise that the seeds of eventual dysfunction are sown in the tissue so long before the symptoms are visible.”

Study co-author, Professor Vinod Mootha, explained that the ultimate goal of researchers is to slow down or stop the FECD disease process so that patients do not require corneal transplants.

"Based on the results of this study, we have a much better idea of what's happening early in the disease process, which lets us better track whether we can reverse those early changes," he said.