Gene mutations responsible for childhood cataracts discovered

11/03/04

PITX3 gene mutations identified as significant cause in four unrelated cases

Gene mutations responsible for causing cataracts in children have been identified by a team of University of Utah vision researchers. The discovery was reported in a recent issue of The Journal of Medical Genetics.

The study, led by assistant professor Kang Zhang, M.D., Ph.D., identified mutations in the PITX3 gene as a significant cause for congenital posterior polar cataracts in four unrelated families from three ethnic groups. According to Zhang, there are only two other gene mutations that have been identified for this type of cataract. Cataracts, or a clouding of the lens of the eye, are the most common cause of blindness in the world. In children, they can cause permanent damage and blindness if not treated appropriately.

While Zhang admits the surgery to remove cataracts in adults and children has become highly refined with low rates of complication, the best option he says is still prevention-especially outside of the United States.

"Cataract surgery has come a long way in the past 20 years. But, they are still the leading cause of blindness for every age group outside of the United States. In addition, surgery for this type of cataract has a much higher rate of complications. Identifying these gene mutations responsible for inherited cataracts could eventually save the vision of tens of thousands of children around the world," he said.

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