British researchers have just published a study they believe could help people suffering from the corneal disease Fuchs endothelial corneal dystrophy (FECD). Not only did scientists discover more information on the genes of FECD patients, they also formulated a possible cure.
Investigators at the University College London (UCL) were interested in locating the genetic causes of corneal endothelial dystrophies (CED). To do this, researchers developed corneal endothelial cell (CEC) models from people suffering from FECD.
As they observed these models, scientists discovered FECD patients developed toxic RNA aggregates that non-FECD patients didn't have. These aggregates were formed due to the growth of three different DNA bases.
Interestingly, researchers also found that by using a targeted antisense oligonucleotide (ASO) treatment, they were able to decrease the severity of these toxic RNA aggregates. Professors who administered this therapy targeted the TCF4 gene.
As hinted at above, FECD causes inflammation in a patient's corneas. In particular, FECD affects the endothelium, which plays a major role in balancing fluids in a person's eyes. Doctors don't know the exact cause of FECD, but they believe it is passed down genetically.
Most people affected by FECD are over the age of 40 and women have a higher risk of developing this disease than men. Typical symptoms of FECD include severe eye pain, poor night vision, and blurry vision.
As of today, there are various treatment strategies for FECD depending on the severity of a person's disease. For mild cases, doctors could improve symptoms by prescribing special eye drops. In more serious cases, patients may need a corneal transplant.
Alice Davidson, who teaches at UCL's Institute of Ophthalmology, was the lead author on this investigation. The UK-based charity Fight for Sight donated most of the money for this study to Dr. Davidson.
For more information on this research, interested readers should check out the latest edition of The American Journal of Human Genetics. This study was published under the title, "Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity."