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U. Iowa study finds blindness link in mutated gene

IOWA CITY, Iowa-Researchers at the University of Iowa have found a mutated gene that causes a rare form of blindness. This may lead to the future treatment of retinal diseases.

The NR2E3 mutated gene causes Enhanced S-cone Syndrome, a disease responsible for night blindness and eventual complete vision loss, said Val Sheffield, a UI professor of pediatrics.

"Though this gene causes a rare form of blindness, it's a really interesting finding because from this, we can learn about other genes in the retina that cause more common forms of blindness," he said.

Before vision is lost, patients with Enhanced S-cone Syndrome, when tested, are found to see blue light better than most people, Sheffield said. This means they have more blue-cone cells, one of the cells that enables color vision.

"If we can understand the mechanism of how cells become cones and why patients with this rare disease have more (blue-cone cells), we may be able to learn how to produce cones by manipulating genes or by pharmaceutical means," he said. "It is a nice starting place for other studies of retina development."

The discovery of mutated genes may also lead to treatment discovery, said Natalla Aptsiauri, an associate in ophthalmology and visual science.

"These findings are just the beginning of the story," she said. "Every time a new gene is found, it is important in understanding other eye diseases, which can lead to correction of the condition."

While the findings are significant, it will be many years before treatment of retinal diseases will result from the study, said Karen Gehrs, an assistant professor of ophthalmology.

"There are no immediate implications from this gene discovery," she said. "However, it builds on the understanding of genetic retina diseases, which in the long run will lead to better methods of diagnosing and treatment."