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Sight fails when defective eye cells cripple renewal
Date:9/1/2011

In a rare eye disease, the retina degenerates because light-receiving cells fail to regenerate, research led by a student at Case Western Reserve University School of Medicine shows.

The researchers include Dr. Samuel G. Jacobson's group at the University of Pennsylvania and Dr. Andreas Engel's group at University of Basel, Switzerland. They found that when the natural renewal process fails, metabolites are locked in, build up and turn toxic, killing cells over time in Enhanced S-Cone Syndrome.

A description of their work is online and will be published in print in the Journal of the Federation of American Societies for Experimental Biology today.

The discovery provides a target to treat and prevent blindness caused by the disease, also known as Goldmann-Favre Syndrome, which is found in about one in 1 million people.

But, more importantly the researchers say, the findings and the scientists' use of two technologies to uncover the mechanisms leading to sight loss may help gain understanding of a broad array of retinal degenerative diseases, including macular degeneration, affecting millions worldwide.

"Although rare, Enhanced S-Cone Syndrome helps us understand critical visual processing errors that arise in disease," said Debarshi Mustafi, who is earning his medical degree and PhD in pharmacology at Case Western Reserve. He is lead author of the study. "Knowing that photoreceptor cells affect their own renewal will surely have an impact on other, more common, forms of retinal degeneration."

Enhanced S-Cone Syndrome is a condition in which the eye no longer has an orderly balance of cells called rods and cones, which enable us to see lights of different wavelengths, that is, different colors. Instead, cones that receive short wavelength light dominate and are clumped throughout the retina.

Those with the disease become night blind and progressively develop blind spots and lose sight as they
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Contact: Kevin Mayhood
kevin.mayhood@case.edu
216-368-4442
Case Western Reserve University
Source:Eurekalert

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