When Ellie Leden was born, her hair was white as snow. Her eyes were blue but transparent.
“You could see the lens right through the iris,” said Ellie’s mother, Lisa Leden.
Ellie, now 3, was diagnosed with albinism, a genetic disorder that blocks the production of pigment in the eyes, hair and skin. People with her type of albinism have significant vision impairment that can’t be corrected. Most are legally blind.
A treatment being studied at UW-Madison could change the prognosis. Ellie is among nine patients who have taken dopamine, a drug for Parkinson’s disease, to see if it improves their vision.
People with albinism have retinas that are deficient in dopamine, a neurotransmitter, said Dr. Michael Struck, a pediatric ophthalmologist who is leading the study. They can’t see images clearly. It’s as if a movie is projected onto tissue paper instead of a solid screen, Struck said.
“We’re trying to improve the conduction of the image,” he said.
Struck plans to enroll 50 patients in the study, which started last year. Participants take a combination of levodopa, or L-dopa, and carbidopa orally three times a day for three months. They undergo a variety of vision tests.
It’s thought to be the only active drug trial in the U.S. for albinism, which affects about one in 18,000 people. A similar study at the University of Minnesota has stopped enrolling patients but hasn’t released results.
“Certainly this would be a very simple fix,” said Sam Hardage, chairman of the San Diego-based Vision of Children Foundation, which is funding most of the UW-Madison research. “We hope it works.”
People ages 3 to 80 can participate in the study. If dopamine proves helpful, children are most likely to benefit, Struck said. Vision, like speech, develops through use during childhood, he said.
“The better your vision is early on, the better it can develop,” he said.
Megan Duffey, 22, has a type of albinism that is somewhat less damaging to vision than the type Ellie Leden has. Duffey’s vision is about 20-80.
Like many people with albinism, Duffey also has strabismus, or “lazy eye,” and nystagmus, in which the eyes sometimes wiggle back and forth.
Despite the challenges, she graduated from UW-Madison in the spring and started at Medical College of Wisconsin in Milwaukee this fall. She sits in front for lectures, sometimes uses a monocular and holds printed materials close to her face. Her iPad, with its zooming feature, has become her favorite tool.
Duffey took dopamine through the UW-Madison study from April to June. She doesn’t think it improved her vision but is excited about the prospects for children.
“The idea that you could treat or fix a little bit of the retina with a medicine already established with the (Food and Drug Administration) is so cool,” she said.
It’s too early to know if Ellie Leden’s vision has improved. Before the study, her vision was 20-160, Lisa Leden said. Legally blind is 20-200.
Ellie navigates the family’s home in Caledonia, Ill., just fine. “But if you bring her to a new environment, she has some difficulty initially,” Leden said.
Ellie uses a slant board for coloring, “gets her nose right in there” when holding a book and watches TV shows on hand-held devices instead of a big screen. Like other people with albinism, she must frequently apply sunscreen when outdoors to protect her skin.
She will likely avoid sports with a ball, given her lack of depth perception, and driving is questionable. But she enjoys dancing and gymnastics.
Leden, a life sciences instructor at Rock Valley College in Rockford, Ill., said she hopes the dopamine improves Ellie’s vision. But even if it doesn’t, she’s convinced her daughter will succeed.
“She’s a feisty 3-year-old,” Leden said. “She should be an attorney. She’s really good at arguing.”