This family is slowly going blind. A UW doctor is searching for a cure
A degenerative eye disease that robs sufferers of sight as they age led Tina Marie Coles to UW's Dr. Jennifer Chao, who is searching for a cure that could eventually help millions.
Tina Marie Coles remembers how her mother would feel her way across the dirt to identify each plant in her garden. She remembers how she sewed dresses from patterns drawn freehand on sheets of newsprint. By the time Marilyn Price Brown sewed her daughter Tina’s wedding gown, she was legally blind. When Tina was old enough to have her own kids, she learned she would eventually go blind, too.
Coles and much of her extended family suffer from Sorsby’s fundus dystrophy, a degenerative eye disease that slowly robs the victim of sight over time. Parents who carry the dominant gene associated with Sorsby’s have a 50% chance of passing it on to their children.
“I always said, if I just maintain a disposition like my mom's, even if I get the eye disease, I think I'm gonna be OK,” Coles said.
At UW Medicine’s Retina Center, Dr. Jennifer Chao is searching for novel therapeutics that could slow the disease down so patients can outlive it — or stop the disease altogether. For this to happen, Dr. Chao collects stem cells from Sorsby’s patients like Tina and grows them in a lab dish for testing.
“If a car is broken down, you really don't know how to fix it unless you can pop the hood and not only just look at the engine, but take it out, and tinker with it, and understand how to do it … and so we have a different way to do that,” said Dr. Chao.
Sorsby's affects only about 1 in every 220,000 people, but Dr. Chao’s study can also teach researchers how to fight macular degeneration, which causes millions of people to lose their ability to see, read and recognize faces.
“The first thing we do when we look at somebody else is we look in the eyes,” Dr. Chao says. “What's amazing to me is, what a wonderful organ it is to study in terms of being able to really understand a disease.”
With a cure still on the horizon, Tina undergoes treatments with Dr. Chao she calls "a new lease on life." As her daughter navigates the same disease that has affected generations of their family, Coles hopes she can also look to their past lives as examples to guide her.