For decades, researchers have attempted to discovery a cure for blindness, a sensory deprivation that can have an extremely negative impact on people"s lives, but at long last hope appears to be around the corner for people at risk of losing their sight.
According to a recent study by experts at Northwestern University in Chicago, they have identified a gene that plays a major role in maintaining clarity of the cornea in humans and mice, and which could possibly be used as gene therapy to treat diseases that cause blindness.
The paper, published in the Proceedings of the National Academy of Sciences, details how a transparent cornea is essential for vision, which is why the eye has evolved to nourish the cornea without blood vessels, but millions of people suffer eye disease diseases or trauma that spur the growth of blood vessels and cause blindness.
Tsutomu Kume, associate professor of medicine at Northwestern University Feinberg School of Medicine and a researcher at Feinberg Cardiovascular Research Institute, revealed: "We believe we"ve discovered the master regulator gene that prevents the formation of blood vessels in the eye and protects the clarity of the cornea."
He acknowledged that the existence of a gene known as FoxC1 was previously known to experts, however its role in maintaining a clear cornea is a new discovery.
By working with a special breed of mice that are missing this gene, Kume and colleagues found abnormal vascular formations, or blood vessels, streaking their corneas and blocking light.
After discovering that the corneal blood vessels in the mutant mice, professor Hum contacted Ordan Lehmann, a collaborator at the University of Alberta in Canada and professor of ophthalmology and medical genetics.
The latter found that patients who have a single copy of this mutated FoxC1 gene and who have congenital glaucoma also have abnormal blood vessel growth in their eyes.
Professor Lehmann, who is a co-author of the study, said that by showing the loss of FoxC1 causes vascularisation of the cornea, it means increasing levels of the gene could help to prevent the abnormal growth of blood vessels, potentially in multiple eye diseases that lead to blindness.
"That"s the hope. One possible use might be in corneal transplants, where the growth of new blood vessels onto the transplanted cornea is a major problem," the expert added.
by Alexa Kaczka