A THOMASIAN doctor has discovered the cause of blindness due to inherited glaucoma among Filipinos.
Dr. Edward Ryan Collantes, a Harvard-based ophthalmologist and researcher, identified changes in a gene called EFEMP-1 in Filipino families with juvenile open-angle glaucoma (JOAG).
Changes in the EFEMP-1 gene cause proteins to pile up inside the cells of the eye and in turn increase pressure leading to glaucoma and eventual blindness.
JOAG afflicts patients as young as three years old up to 40 years old. It contains an autosomal dominant pattern of inheritance which means each offspring of an afflicted parent has a 50 percent chance of inheriting the eye condition.
“We know about glaucoma for centuries now but to this day, we don’t have the exact picture of what happens,” Collantes said in an interview with the Varsitarian. “My objective in this research is to find out what genes are causing these diseases.”
He added that some of his patients believe that their eye conditions are “curses” imposed upon their families.
“We want them to be able to understand that this is not a supernatural phenomenon,” he said.
“When you help them understand, they are in a better position to make decisions for themselves.”
Collantes hopes that this breakthrough will lead to more diverse studies in the field of genetics as well as inspire younger generations to partake in the research.
“The more you study diverse people, the more that you understand what makes us sick, what makes us human,” he said. Hopefully, that translates to better medical treatments later on.”
Collantes earned his degree in medicine at UST in 2008.
