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Researchers Discover Early Detection of Common Degenerative Eye Disease

Posted on September 17th, 2020
Researchers Discover Early Detection of Common Degenerative Eye Disease

Thanks to advanced technology, scientists can predict our future health! We are becoming increasingly familiar with how medicine and diagnostic testing plays a key role in the treatment of disease. Today, we can detect markers for our predisposition to particular conditions as well as identify certain mutations to genes, chromosomes and proteins that can increase our chances of being diagnosed with specific diseases, including eye disorders.  We live our day to day lives with the secrets of our future tucked away in our cells. Scientists can read those clues and develop treatment plans far before the illness begins to manifest.  

How eye disease is diagnosed is constantly evolving as research progresses. Last month, researchers at UT Southwestern Medical Center discovered a potential new way of detecting Fuchs’ endothelial corneal dystrophy (FECD). 

FECD is a disease that affects the outer layer of your eye. Patients will typically experience a swollen cornea, blurry vision and discomfort, caused by the degeneration of the endothelial cells on the inner layer of the cornea. It’s a common genetic disorder that affects approximately 4% of individuals over the age of 40. This degenerative disease can unfortunately lead to vision loss. The CNIB reports 5.59 million Canadians have an eye disease that could lead to loss of sight. Right now, the primary treatment of FECD is to manage the symptoms with eyedrops until an eventual cornea transplant is required. However, new research suggests FECD could be screened long before symptoms or transplantation is necessary. 

FECD Early Detection is Possible

A team of researchers from UT Southwestern Medical Center made a discovery that could change that statistic. They identified molecular changes that could detect FECD decades before patients experience typical blurry vision symptoms.  

“We found changes in the pre-symptomatic tissue that would not be readily apparent to ophthalmologists who are examining patients. This molecular cascade of events is initiated decades before we usually detect disease in the clinic,” said Vinod Mootha, co-senior author of the UTMC study.  

Mootha discovered the key to comprehending this type of corneal dystrophy was to understand how DNA correlates with the presence of the disease. Incredibly, a repetitive section of DNA in patients with FECD creates repeating and toxic RNA in the cornea tissue. Therefore, in order to detect the disease, scientists must look for this repetitive gene. The higher amount of this gene present, the more likely individuals will develop FECD.  

Corneal Degeneration Clues in Eye Tissue 

“For most trinucleotide repeat diseases, it’s impossible to obtain affected tissue, and very hard to study the early stages of disease. But with the eye, we can actually look at human tissue samples quite easily. It was really a surprise that the seeds of eventual dysfunction are sown in the tissue so long before the symptoms are visible,” said David Coorey, the other co-senior author of the study.  

While there is still a long way to go in understanding corneal degeneration, this study offers hope for those who may be genetically predisposed to FECD.  

Mootha believes this study will lead to new treatment options for patients. “Our ultimate goal is to try to slow down or stop the disease process so that patients don’t need corneal transplants,” he said. “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.” 

If you have any questions about corneal degeneration vision disorders or would like to speak to an optometrist about another vision issue, contact your local Visique today.  

Read more about recent eye research and technology on our blog.