Winter
2012

Discovery

Defective Cells Cause Retinal Degeneration In Rare Eye Disease

Defective Cells Cause Retinal Degeneration In Rare Eye Disease

Researchers at Case Western Reserve School of Medicine have discovered the mechanism that causes blindness in a rare eye disease, which may shed light on other common causes of blindness.

In Enhanced S-Cone Syndrome—a hereditary eye disorder that affects about one in 1 million people—the retina degenerates because the natural cell renewal process fails, according to researchers. When the eye’s photoreceptors fail to regenerate, metabolites build up, turn toxic and kill cells over time.

In a healthy retina, a process called phagocytosis employs specialized cells to continually renew the eye’s cones. Using a combination of genesequencing and imaging techniques in biologic models, researchers found aberrations in the cones, which halt the renewal process.

The discovery provides a target for treatment. But more importantly, the researchers say their findings and the technology they used could help increase the understanding of a broad array of degenerative retinal diseases, like macular degeneration, which affect millions worldwide. “Although rare, Enhanced S-Cone Syndrome helps us understand critical visual processing errors that arise in disease,” says the study’s lead author, Debarshi Mustafi, who is earning his medical degree and PhD in pharmacology at the medical school.

Mustafi worked with advisor Krzysztof Palczewski, PhD, the John H. Hord Professor and chair of the Department of Pharmacology at the School of Medicine, who served as the paper’s senior author. The team also included researchers from the University of Pennsylvania and the University of Basel in Switzerland.