Ophthalmologist Dr. Johane Robitalle has been studying the eye for many years.

“This has been a work in progress since 1998 since I started working on this,” says Dr. Robitaille. “This started in the clinic when I saw a baby that was then six weeks old who had a very severe form of this condition.”

The condition is familial exudative vitreoretinopathy, or FEVR.

“The retina requires good vascular supply in order to function properly and in FEVR, patients have a lack of full vascularization, of full vessel development, along the inner lining of the eye,” says Dr. Robitaille.

FEVR can cause progressive vision loss, eventually leading to blindness. It’s caused by a genetic defect present at birth. Dr. Robitaille and her team first identified one of the genes responsible for FEVR in 2002 – a discovery that laid the groundwork for developing a better treatment.

“Once you know a little bit more about the molecular basis of the disease, you can then start to hypothesize other pathways you could tweak that could then maybe fix this problem,” says Dr. Chris McMacster, head of the Department of Pharmacology at Dalhousie University.

He says current treatments only deal with the complications of FEVR, but he hopes the drug he and Dr. Robitaille are working on will be a cure.

“Current treatments cannot actually restore vision whatsoever, they can primarily just prevent vision from getting worse,” Dr. McMaster tells CTV News. “What this treatment should do is restore vision to babies and it should be lifelong.”

The drug has been tested in both zebra fish and mice with FEVR.

“Now we find the mice actually have improved vascularization of the retina which means they should be able to see just fine,” Dr. McMaster says.

“We found a potential medication that we need to tweak in order to be a proper suitable medication to use inside the eye,” adds Dr. Robitaille.

The researchers are hoping this drug will also help pre-mature babies. The blood vessels in the retina are often less developed in preemies, which leads to vision problems similar to FEVR.

Further research is needed to test the safety of the drug before a clinical trial in humans is approved. Dr. Robitaille hopes to see that happen within three to four years.