LCA is considered a rare but devastating form of early-onset blindness, and is a common reason children are enrolled in schools for the blind. Finding the gene is the first step towards developing sight-saving gene therapy.
“The immediate benefit of this discovery is that affected patients with mutations in this new LCA gene now know the cause of their condition, said Eric Pierce, MD, PhD, co-senior author and director of the Ocular Genomics Institute at Mass. Eye and Ear. “Scientists now have another piece to the puzzle as to why some children are born with LCA and decreased vision. The long-term goal of our research is to develop therapies to limit or prevent vision loss from these disorders.”
The researchers’ findings were published July 29 in the online edition of Nature Genetics.
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