By Mandy Erickson

As a bespectacled second-grader, Sam Hickman was undergoing an annual eye exam when his optometrist noticed that his optic nerves looked “lumpy-bumpy” — a telltale sign of optic disc drusen.

About 2% of the population has the disease, in which tiny deposits of calcium phosphate fill the hole where the optic nerve connects the eyes to the brain, “like a landslide blocking a tunnel,” said Joyce Liao, MD, PhD, associate professor of ophthalmology and of neurology at the Stanford School of Medicine. The deposits can cause peripheral vision loss, extra blind spots and, in some cases, blindness.

Hickman, now 24, is a data analyst in Portland, Oregon. He can see his computer screen fine, though he has a hole in his vision, in the center-left part of his right eye. He notices it when he looks at something far away. Still, the disease scares him: As he learned when he first saw Liao as a San Jose high-schooler, there is no treatment, and the disease is often progressive.

An amazing opportunity

Because severe vision loss in optic disc drusen patients is rare, little research has been conducted. Scientists still do not know what causes ODD, why and when it progresses, and how to meaningfully treat it. But having received a $10 million gift from an anonymous donor last year to open what is believed to be the world’s first optic disc drusen center, Stanford Medicine researchers hope to make major advances in understanding and treating the condition.

“It’s an amazing opportunity to make a huge difference in vision restoration,” said Liao, director of the Center for Optic Disc Drusen, which is housed at the Byers Eye Institute.

The researchers plan to build a database of people with the disease, periodically testing their visual function, taking images of their eyes and tracking any changes. Not everyone who shows signs of the disease develops vision problems, and researchers would like to be able to offer more accurate prognoses.

They’ll also take a look at the genetic component. When one parent has ODD, there’s a 50% chance his or her child will, too; yet some patients, like Hickman, have no family members with the disease.

The researchers plan to develop models to better understand the biological process of the disease and how it progresses. And they will investigate what happens to the way the eyes and the brain communicate in patients with ODD.

Hickman said he was excited to learn that the Center for Optic Disc Drusen had been established. “It seems like it’s a disease that just needs some attention,” he said.

“It’s huge that someone’s willing to put that kind of money into it,” he added. “It gives me a lot of hope.”