Scientists ID New Gene Linked to Vision Loss in Infants

18 genes now associated with Leber congenital amaurosis, a rare inherited retinal disease

MONDAY, July 30, 2012 (HealthDay News) -- A new gene associated with a rare form of blindness from birth has been identified by researchers.

According to the report published online July 29 in the journal Nature Genetics, mutations in the NMNAT1 gene are linked to Leber congenital amaurosis (LCA), an inherited retinal degenerative disease that causes reduced vision in infants. Signs of vision loss are apparent in the first few months of life.

LCA is a common reason for enrolling children in schools for the blind.

This finding is a step forward in developing sight-saving gene therapy for patients with LCA, according to the researchers at the Massachusetts Eye and Ear Infirmary, the Children's Hospital of Philadelphia, Loyola University Chicago Health Sciences Division, and their colleagues.

"The immediate benefit of this discovery is that affected patients with mutations in this new LCA gene now know the cause of their condition," study co-senior author Dr. Eric Pierce, director of the Ocular Genomics Institute at Massachusetts Eye and Ear, said in an infirmary news release.

"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," Pierce said.

NMNAT1 is the 18th identified LCA gene and is located in a region known to harbor another LCA gene.

Leber congenital amaurosis occurs in about three of 100,000 newborns, and is one of the most common causes of blindness in children, according to the U.S. National Library of Medicine.

More information

The U.S. National Institutes of Health has more about Leber congenital amaurosis.

SOURCE: Massachusetts Eye and Ear Infirmary, news release, July 29, 2012
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