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Enzyme linked to childhood blindness identified

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LOS ANGELES — A gene that is missing in infants with Leber’s congenital amaurosis has been identified as a key enzyme in the visual cycle, according to researchers at the University of California, Los Angeles.

Gabriel Travis, MD, and colleagues at UCLA’s Jules Stein Eye Institute said RPE65, a gene that has previously been identified as playing a role in the development of Leber’s congenital amaurosis, is also the retinoid isomerase. Dr. Travis equated the discovery with searching the world for a treasure, then finding it in your own backyard.

Leber’s congenital amaurosis is an inherited disease that is believed to cause as much as 20% of childhood blindness, according to a press release from UCLA. “An important characteristic of this disease is that the light sensitive rod and cone cells remain intact in the retinas of Leber patients for a long time,” the release said.

This allows the possibility that replacing RPE65 through gene therapy “should correct” the blindness in affected children, as it has in mice and dogs with RPE65 mutations, Dr. Travis said.

The study is published in the Aug. 12 issue of Cell.