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Children with a rare form of eye disorder who were born blind can now see thanks to a “remarkable” gene therapy breakthrough.

Researchers from London’s Moorfields Eye Hospital, biotech firm MeiraGTx and University College London have demonstrated that their therapy is both safe and effective in improving the vision of and slowing retinal deterioration in young patients born with “LCA-AIPL1.”

This previously untreatable genetic disorder, which affects some 2–3 of every 10 million newborns, leads to profound visual impairments and legal blindness.

In turn, this causes affected children to typically experience delayed and disrupted development in areas such as behavior, communication, and mobility.

After trials of the new procedure, however, children that before could only play with toys by feeling are now able to safely run about, identify pictures and even drive go-karts.

“It’s an absolutely transformational improvement,” paper author and Moorfields ophthalmologist Michel Michaelides told Newsweek.

LCA (Leber congenital amaurosis) is the name given to a family of inherited eye disorders that affect the retina—the layer at the back of the eyeball containing light-sensitive “photoreceptor” cells.

These disorders are seen in roughly 2–3 out of every 100,000 births. There are many types of LCA and these vary depending on which of the genes involved in the development and function of the retina are affected.

At present, the only treatable form of LCA is that which involves a mutation in the gene coding for RPE65, a protein involved in the “visual cycle” that translates photons of light into electrical signals that the brain can then interpret.

Specifically, the protein helps refresh special pigments in photoreceptor cells so that they can be used over again. Without it, vision cannot be sustained.

Children with LCA-RPE65 tend to have poor night vision from birth and reduced day vision.

“They will recognize spaces and colors, and they’ll be on the vision chart,” Michaelides explains.

In 2017, the U.S. Food and Drug Administration (FDA) approved Luxturna, a gene therapy, for the treatment of RPE65-associated LCA. Gene therapies work by using a virus to install a new, healthy copy of a faulty gene into a patient’s cells to help address the underlying problem.

RPE65 mutations, however, only underlie about eight percent of LCA cases—and such are on the relatively milder end of the spectrum, in terms of not only severity but also the rate of onset and progression. Because of the latter, patients with RPE65-associated LCA can be treated from diagnosis up until their thirties or even forties.

In the new study, the researchers have focused on one of the rarest—and previously untreatable—flavors of LCA which affects the gene for AIPL1, which is essential for both the development and function of photoreceptor cells. This type of LCA is far more severe in effect, Michaelides says.

“They can’t get around in the dark. They’ve got no peripheral vision. Their central vision is virtually zero,” he explained.

“They can tell whether a light is on or off—if you shine a bright light at them, they might look towards it, for example.

“And then a smaller number of children with AIPL1 may be able to discern a large object really close up, or if it’s moving.”

Signs of AIPL1 issues in newborn children can include roving, almost shaking, eye movements; an inability to fix their eyes on anything, including their parents; and sleeping problems due to an inability to tune into the day/night cycles that normally set our bodies’ circadian rhythms.

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Children with a rare form of eye disorder who were born blind can now see

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