Enhanced S Cone Syndrome

Eye Donation Yields Insight Into Rare Blindness Form

Published in Gene Therapy Weekly, February 7th, 2002

The posthumous gift of eyes from a patient with a rare retinal disease, enhanced S cone syndrome (ESCS), has taught researchers more about the role of NR2E3, the gene that causes this form of blindness.

ESCS is an inherited condition that gradually causes night blindness, loss of peripheral vision, and sensitivity to blue light. Researchers at the Scheie Eye Institute at the University of Pennsylvania Medical Center led the study.

"This is one of those occasions where a generous eye donor has helped scientists to understand a rare disease," said Ann H. Milam, PhD, lead author and a researcher at the F. M. Kirby Center for Molecular Ophthalmology...

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Source: Gene Therapy Weekly (2002-02-07)

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