Cure For Blindness Is In Sight: Treating Genetic Mutation FEVR Before Babies Are Born
Researchers at Dalhousie Medical School have discovered a drug with the potential to stop babies born with familial exudative vitreoretinopathy (FEVR) from going blind.
According to Genetics Home Reference, FEVR is a hereditary disorder that prevents blood vessels from forming around the retina, reducing blood supply to this tissue, causing progressive vision loss. Dr. Chris McMaster, professor and head of the Department of Pharmacology, told Medical Express the drug can cure animal models. His team must now determine the proper dosage and safety protocols before giving it to children.
This potential breakthrough wouldn’t have been possible without ophthalmologist Dr. Johane Robitaille and her team in 2002, who discovered the FEVR gene mutations and how it worked. When Robitaille mutated the gene, she found the veins and arteries in the retina weren't developing properly. The identification of this gene allowed scientists, such as McMaster, to begin finding way to repair this mutation.
“This drug would enable the vessels in the retina to grow and complete their development,” Robitaille told Medical Express. “We can facilitate that with this therapy, so that we can prevent the FEVR-related complications from happening. It would work directly against the pathology that causes the blindness.”
While doctors can manage complications from FEVR, there is currently no treatment for the disease. McMaster and Robitaille plan to be conducting clinical trials for the drug within four years. The ideal recipient, if the treatment is approved, would be newborns screened positive for FEVR's genetic mutation.
“This drug won't help with the scar tissue that's already developed, so that's why you want to catch symptoms early on; scarring around the retina is what causes the blindness,” Dr. Robitaille told Medical Express.
If the drug passes clinical trials and can cure newborns of FEVR, researchers hope the same drug can be used to cure babies with retinopathy of prematurity (ROP), the number one cause of blindness in the first world. ROP is similar to FEVR from a pathological standpoint, Dr. Robitaille says, and if the drug works for one condition, it may cure the other.
Previously scientists developed ‘mini retinas’ from stem cells in an effort to grow new eyes in the lab. Read here.