Rare eye disease is focus of new Stanford Medicine center

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 (ODD).

Joyce Liao is director of the Stanford Health Care Center for Optic Disc Drusen, which was established with a $10 million gift from an anonymous donor. (Image credit: Steve Fisch)

About 2 percent 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, 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. 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.

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.

“I’ve been studying patients and learning about ODD over the years,” Liao said. “But now we can really accelerate our knowledge about ODD — how to preserve vision and even restore visual function.”

Liao added that better awareness about the disease will likely help scientists tackle other eye conditions, such as ischemic optic neuropathy and glaucoma. “In understanding an orphan disease like ODD, we learn a lot about other related diseases,” said Liao, who specializes in treating patients with diseases relating to the optic nerve.

Read the full article on the Stanford School of Medicine website.