Fuchs endothelial corneal dystrophy (FECD) is a rare eye disease that affects the thin layer of cells that line the back part of the cornea, known as the endothelium. When the cells in endothelium die off, fluid builds up in the cornea, causing swelling and vision loss. Currently the only treatment is a corneal transplant. Of course, that is surgery and all surgery comes with risks and potential complications. What if there was another way to treat this disease and get a good outcome?
Well thanks to research, there are other treatments being developed. One such treatment developed at New York University Langone, combines minimally invasive surgery and the use of Rho-associated protein kinase (ROCK) inhibitors to activate cell regeneration within the cornea’s endothelial layer. This was developed by Kathryn A. Colby, MD, PhD, Department of Ophthalmology chair and Elisabeth J. Cohen, MD, Professor of Ophthalmology.
This builds on decades of work to give those with FECD an alternative to corneal replacement. The removal of damaged tissue within the central endothelial layer has been shown to restore function while eliminating the risks associated with corneal transplant. In addition, Colby has used ROCK inhibitors to enhance surgical effectiveness by both stimulating cell rejuvenation and increasing the presence of healthy endothelial tissue. Her study wants to provide evidence that this approach is effective in treating FECD and preserving sight.
There’s also research taking place at the Phil and Penny Knight Campus for Accelerating Scientific Impact at the University of Oregon to provide an alternative to corneal transplants for persons with FECD. Researchers, led by Balamurali K. Ambati, MD, PhD, used the CRISPR-Cas9, which is a tool used to edit the genome, to get rid of a mutant form of a protein that is linked to the disease.
Researchers were able to stop the toxic protein expression and study it in a mouse model. The lab was able to confirm that they were able to rescue the loss of corneal endothelial cell in the mice who received the treatment. Since corneal cells are the type where a person is born with all the cells the person will ever have, being able to stop the cell loss is a big deal. Future research of this development will be done on other animal models and human donor corneas from eye banks in order to move forward into clinical testing in humans.
These two projects show that there can be other ways to treat a disease like FECD. These projects, while not entirely eliminating the need for transplant surgery, will one day provide less evasive treatment options.
Sources:
https://rarediseases.info.nih.gov/diseases/10018/fuchs-endothelial-corneal-dystrophy/
https://accelerate.uoregon.edu/gene-therapy