Shedding light on rare diseases

Pictured is the magazine cover art for the research article. The leaves represent different cells in the human body, the water droplets represent lysosomes, and the snail represents the OCRL protein.

Yang Sun, MD, PhD, associate professor of ophthalmology, is a clinician-scientist who has devoted the past decade to searching for a cure for a rare disease known as Lowe syndrome. Primarily affecting the eyes, kidney, and brain in children, the disease can lead to congenital cataracts, glaucoma, and developmental delays, and can progress to blindness in adulthood. 

“While there is currently no cure for Lowe syndrome, I am optimistic about finding an effective treatment for these children,” Sun said. “Many of these patients develop glaucoma during childhood, which is far more difficult to manage in infants who not only have to adjust to eye drops but who also have to undergo multiple surgeries related to Lowe syndrome.”

In a recent cover article, “Centrosomal OCRL regulates lysosome positioning” in EMBO Reports, Sun’s lab collaborated with Jeffrey Goldberg, MD, PhD, professor and chair of ophthalmology, and Yang Hu, MD, PhD, associate professor of ophthalmology, to understand the molecular cause of the disease and develop novel therapeutics.

This study has been supported by the National Eye Institute/National Institutes of Health, the Department of Veterans Affairs, and the Stanford Maternal and Child Health Research Institute. In the article, Sun’s team discovered a new function for the OCRL protein, which is missing in children with Lowe syndrome, and found a way to rescue defective patient cells, leading to a new treatment approach. This has promising implications, not just for those with Lowe syndrome, but also for patients with other forms of glaucoma.

On the clinical side, Sun has teamed up with Scott Lambert, MD, professor of ophthalmology and pediatrics, who performs cataract and glaucoma surgeries for Lowe syndrome patients. Lambert has been working closely with Sun to help recruit patients and manage their complex eye conditions.

“The research Dr. Sun is doing on this syndrome has transferred to the clinic, because not only can we treat their disease, but we now have more knowledge about how the disease develops,” Lambert said.

“The research we are doing with Lowe syndrome is not just about restoring vision, but saving lives,” Sun said. “Going forward I want to leverage our breakthroughs in clinical research to not only help those with Lowe syndrome, but to treat other degenerative visual diseases.”


Kathryn Sill is a web and communications specialist for the Byers Eye Institute in the Department of Ophthalmology, at Stanford University School of Medicine. Email her at