Rare eye disease is focus of new Stanford Medicine center

A $10 million gift has enabled the launch of a center focusing on optic disc drusen, a poorly understood eye disease that can lead to visual impairment or even blindness.

Joyce Liao is director of the Stanford Center for Optic Disc Drusen at the Byers Eye Institute. The center was established with a $10 million gift from an anonymous donor.
Steve Fisch

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. 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. 

“Not only is there no chance my eyes will get better,” Hickman said, “but there’s a very good chance they’ll get worse. It’s hard to think that there’s a ticking time bomb on my vision.”

‘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, a neuro-ophthalmologist at Stanford Health Care and director of the Center for Optic Disc Drusen, which is housed at Stanford's Byers Eye Institute

Sam Hickman

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. 

“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.

“Because of new eye imaging technologies and other neuro-ophthalmic research techniques, now is the perfect time for us to tackle this condition,” she added. 

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.”



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