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Tuesday / December 10.
HomeminewsBlind Gene Isolated

Blind Gene Isolated

American researchers have isolated an elusive human gene, responsible for a relatively rare but devastating form of early-onset blindness.

The gene, called NMNAT1, causes a form of Leber congenital amaurosis (LCA). Finding the specific gene mutated in patients with LCA is the first step towards developing sight-saving gene therapy.

LCA is an inherited retinal degenerative disease characterised by reduced vision in infancy. Within the first few months of life, parents usually notice a lack of visual responsiveness and unusual roving eye movements known as nystagmus. LCA typically involves only vision problems, but can be accompanied by disease in other organ systems in a minority of patients. LCA is a common reason children are enrolled in schools for the blind.

Dr. Eric Pierce, from the Massachusetts Eye and Ear Infirmary, said the “immediate benefit of this discovery is that affected patients with mutations in this new LCA gene now know the cause of their condition”.

LCA is an inherited retinal degenerative disease characterised by reduced vision in infancy.

“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.”

NMNAT1 is the 18th identified LCA gene. The gene resides in a region that was known to harbor an LCA gene since 2003, but the specific disease gene has been undiscovered until now.

The research involved a collaboration between the Massachusetts Eye and Ear Infirmary, The Children’s Hospital of Philadelphia, and the Loyola University Chicago Health Sciences Division. The findings were published the online edition of Nature Genetics in July.

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