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 degener