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Genetic Testing Sheds Light on Degenerative Eye Disease

may alter the way another gene functions. Finally, while there has been great progress, scientists have yet to identify all the genes that contribute to disease of the retina.

“Tomorrow we may discover a new gene that explains many of the previously inconclusive test reports,” says Ayyagari.

In a related paper in the same issue of Archives of Ophthalmology, Stephen Daiger, Ph.D., University of Texas Health Science Center, writes on the promise of genetic testing for eye disease. He says, “Across all of the categories of inherited retinopathy, careful screening of known disease genes leads to detection of pathogenic mutations in 25 percent to 90 percent of patients, an extraordinary accomplishment.”

It is to the patient’s advantage to have a molecular diagnosis on file, observes Ayyagari. “When treatments begin to emerge for these complex genetic diseases,” she says, “the individual’s genotype may determine whether a new treatment will be the one that works for that patient.”
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