In bright daylight, 10-year-old Mark DeVoe has no trouble seeing his friends, but inside, or even in the shade, Mark's eyes sometimes don't work.
"I have trouble seeing like, trees, when the road ends, and when there's like a drop there," Mark said.
At age six, Mark's doctors diagnosed him with the genetic condition choroideremia, which causes people to progressively lose vision until they are completely blind.
"I don't know what it's like to live in darkness, but I've seen it," said Susan DeVoe, Mark's mother.
Susan is a carrier of the blindness gene. Mark's grandfather has the condition.
"Watching my father go blind was devastating. I was a little girl. You know, you count on daddy to do things, and daddy couldn't do them," she recalled.
Dr. Jean Bennett is one of two U.S. researchers preparing to test a gene therapy for choroideremia in humans.
"I think gene therapy holds a huge promise for developing treatments for blinding diseases," said Bennett, ophthalmologist and molecular geneticist at the University of Pennsylvania.
Researchers will use a virus, carrying a normal choroideremia gene and inject the virus just under the retina. The gene should begin to work in a few weeks.
In a trial of six patients in the United Kingdom, all six had better low-light vision six months after the therapy. Two of the six could read more lines on an eye chart. Bennett said early success in the U.K. is encouraging.
"If we can prevent the disease there from continuing, it would change people's lives," Bennett said.
"I want my son cured. I want to see all these guys who it breaks my heart to see walking around a conference with white canes. I want them to have freedom," Susan said.
And a chance to enjoy all the fun that comes along with being a kid.
Bennett said the first U.S. clinical trial will enroll 12 adults and is designed to test the safety of the gene therapy.
Bennett said she hopes to expand the trial to include children and teens in the second phase.
In the meantime, the DeVoe family has started an education and fundraising organization called "Angels for Mark." Over the past three years, the group has raised more than $100,000 for choroideremia research.
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