Gene therapy helps restore sight

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One in 40,000 children is born with a rare genetic disorder that robs them of their vision. Now, surgeons are performing an innovative gene therapy treatment that is restoring the gift of sight within days.

Ro’Nylah Cummings loves tumbling, but just a year ago, she couldn’t see an inch in front of her face.

“She would walk right into a wall,” said Rolanda Parker, Ro’Nylah’s mom.

The 5-year-old suffered from a rare disorder that would leave her completely blind.

“Leber congenital amaurosis is a congenital retinal degeneration,” ophthalmologist Dr. Byron Lam said.

Now, doctors are performing a Food and Drug Administration-approved procedure that replaces the mutated gene. It’s called Luxturna by Spark Therapeutics.

First, the surgeon creates a retinal detachment.

“And under the retina, you put a virus that has the gene that is defective in her,” pediatric retina surgeon Dr. Audina Berrocal said.

The virus infects the retinal cells producing the normal protein that restores vision.

“Patients even two days after surgery are noticing and doing things that they haven’t been able to do before,” Berrocal said.

Ro’Nylah had both eyes done in October 2018. Her mom noticed a difference as soon as they got home.

“We did, like, four pages of homework together and she could see it just fine, and I’m like, wow!” Rolanda said.

“For me as a surgeon, it’s incredible,” Berrocal said.

But the price tag for the procedure is hefty.

“The treatment is $425,000 per eye,” Lam said.

But knowing her daughter can now see the family pet, Sweetie, makes the procedure is priceless.

“It’s given me so much hope for her,” Rolanda said.

Her mom tells us Ro’Nylah can even see at night now.

In some cases, insurance covers part or most of the cost.

Doctors say the treatment seems to have a more dramatic impact on children than adults with the same condition. But they say the therapy opens the door for future gene therapies, and that may drive down the cost.

Follow-up studies are only three years out, so the long-term benefits of Luxturna are unknown.

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REPORT: MB #4543

BACKGROUND: Leber congenital amaurosis (LCA) is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning in infancy. The visual impairment tends to be stable, although it may worsen very slowly over time. Leber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light, involuntary movements of the eyes, and extreme farsightedness. The pupils, which usually expand and contract in response to the amount of light entering the eye, do not react normally to light. Instead, they expand and contract more slowly than normal, or they may not respond to light at all. Additionally, the cornea may be cone-shaped and abnormally thin, a condition known as keratoconus.

TREATMENT: Scientists have identified 14 genes with mutations that can each cause LCA. These genes account for approximately 75 percent of all cases of LCA. With this information, scientists are better equipped to develop preventions and treatments. Some individuals with LCA, who have remaining vision, may benefit from the use of low-vision aids, including electronic, computer-based and optical aids. Orientation and mobility training, adaptive training skills, job placement, and income assistance are available through community resources.

NEW RESEARCH: LUXTURNA is a one-time gene therapy for each eye. Gene therapy is a method for treating a genetic disease. One approach to gene therapy is delivering a new or functional gene into a cell. The visual cycle is a process that allows you to see. LUXTURNA provides a working RPE65 gene to act in place of a mutated RPE65 gene. This working gene has the potential to make the visual cycle work properly again. LUXTURNA is given by a healthcare professional as a surgical injection beneath the retina of each eye. One eye is treated at a time. After the first eye is treated, the second eye will be treated at least 6 days later. The most common side effects that may occur with LUXTURNA are redness of the eye
Cataracts, increased pressure inside of the eye, breaks in the retina, development of a hole in the center of the retina, subretinal deposits, eye swelling, irritation, or pain, or wrinkling on the surface of the center of the retina.