Scientists ID New Gene Linked to Vision Loss in Infants

HealthDay – 1 hr 7 mins ago MONDAY, July 30 (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.

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Fatty acid found in fish prevents age-related vision loss, study suggests

ScienceDaily (May 30, 2012) — An omega-3 fatty acid found in fish, known as DHA, prevented age-related vision loss in lab tests, according to recent medical research from the University of Alberta.

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Yves Sauvé, a researcher in the Faculty of Medicine & Dentistry, and his team discovered that lab models fed DHA did not accumulate a toxic molecule at the back of the eyes. The toxin normally builds up in the retina with age and causes vision loss.

"This discovery could result in a very broad therapeutic use," says Sauvé, whose work was recently published in the peer-reviewed journal Investigative Ophthalmology & Visual Science.

"In normal aging, this toxin increases twofold as we age. But in lab tests, there was no increase in this toxin whatsoever. This has never been demonstrated before -- that supplementing the diet with DHA could make this kind of difference."

The team recently started another study, looking at people who have age-related macular degeneration, a condition that results in loss of central vision and is the main cause of blindness in people over the age of 50. The researchers will look for DNA markers in the blood of study participants. The team wants to determine whether participants with certain genetic markers will respond better to increasing amounts of DHA in their diet, and if so, why.

Sauvé is a researcher in the departments of ophthalmology and physiology at the U of A.

Various organizations funded the research; the primary funder was the Canadian Institutes of Health Research.

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Cell transplants boost vision of night-blind mice: study

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