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Genetic testing, therapy curbs blindness in some children

Category: DNA, Paternity and Genetic testing

Leber congenital amaurosis (LCA), a genetically inherited eye disease, can be effectively treated through gene therapy, a recent study indicates.

LCA is a disease caused by gene mutations that results in abnormal eye movements during infancy, vision loss in early childhood, and, typically, blindness by the age of 30 or 40, Medical News Today reports.

During the recent study, researchers from the University of Pennsylvania School of Medicine injected genetic material designed to correct LCA into the eyes of 12 patients, between the ages of 8 and 44. The gene therapy resulted in a 100-fold increase in the eye's sensitivity to light.

The greatest improvements in papillary light response were experienced by children between 8 and 11 years old.

"All 12 patients given gene therapy in one eye showed improvement in retinal function, and the effect was stable during follow-up," Dr Jean Bennett, the study's lead author, told the news source.

"The visual recovery noted in the children confirms the hypothesis that efficacy will be improved if treatment is applied before retinal degeneration has progressed," she added.

The study was published in the October 24 edition of The Lancet.
Project 3000, a nonprofit organization founded by Chicago Cubs first baseman Derrek Lee and Boston Celtics owner Wyc Grousbeck, was established in 2006 to help Americans with LCA receive genetic testing.

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