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Genetic cause of childhood blindness identified
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MEMPHIS, Tenn. – A genetic defect that causes Leber congenital amaurosis has been identified in a lab model, and scientists hope to be able to develop treatments to prevent or eradicate the disease, according to a press release from St. Jude Children’s Research Hospital.
Because the disease is so rare, there are not enough patients to enroll in large clinical trials; investigators at St. Jude are using the model to develop a gene therapy for the disease. In a mouse model, those with Leber congenital amaurosis (LCA) lack both copies of the AIPL1 gene, which is “essential for the final development of light-sensitive cells in the retina,” according to the release.
The AIPL1 gene might regulate the multiplication of the “primitive cells that give rise to the special cells that make up the mature retina,” the researchers said, or it might determine which specialized cell develops from a specific primitive cell. They also believe the gene might regulate the formation of rod cells during the late stages of retinal development.
LCA occurs in about 1 in 100,000 births.