Stories about: blindness

Drug ‘cocktail’ could restore vision in optic nerve injury

regenerating optic nerves cropped
Gene therapy achieved extensive optic nerve regeneration, as shown in white, but adding a potassium channel blocking drug was the step needed to restore visual function. In the future, it might be possible to skip gene therapy and inject growth factors directly. (Fengfeng Bei, PhD, Boston Children’s Hospital)

When Zhigang He, PhD, started a lab at Boston Children’s Hospital 15 years ago, he hoped to find a way to regenerate nerve fibers in people with spinal cord injury. As a proxy, he studied optic nerve injury, which causes blindness in glaucoma — a condition affecting more than four million Americans — and sometimes in head trauma.

By experimenting with different growth-promoting genes and blocking natural growth inhibitors, he was able to get optic nerve fibers, or axons, to grow to greater and greater lengths in mice. But what about vision? Could the animals see?

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NIH funding snapshots: Your tax dollars at work

2014NIHFundingFunding drives biomedical research, and research drives treatment innovation. Access to funds, particularly National Institute of Health (NIH) awards, is critical to move research forward. The 21st Century Cures Act, which passed the U.S. House on July 10, could give the NIH $8.75 billion more in new grants to disperse over the next five years, the largest increase since the Recovery Act of 2009.

How would those funds be used? Can research find a better way to treat patients? Prevent disease? Disseminate advances in medicine?

In 2014, Boston Children’s led the U.S. in NIH awards. Here’s a look at how a few research teams are leveraging NIH funding to improve care for both children and adults.

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Ophthalmologist finds another way to be a rock star

From a series on researchers and innovators at Boston Children’s Hospital.David Hunter, MD, PhD

David G. Hunter, MD, PhD, dreamed of a career as a rock star. Instead, he became Boston Children’s Hospital’s ophthalmologist-in-chief and invented the Pediatric Vision Scanner. The device, designed for use by pediatricians, detects amblyopia or “lazy eye,” the leading cause of vision loss in children, as early as preschool age when the condition is highly correctable.

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Ingenuity and advocacy: Mom inventor named Boston Children’s Rising Star

Catherine Rose Rising Star Boston Children's Hospital
Catherine Rose with daughter Alexis (Catherine Lacey Photography)

What spurs innovation? Catherine Rose, PhD, MBA, senior product manager for Philips Healthcare Applications, says it was her daughter, Alexis.

In 2010, Alexis, who is visually impaired and profoundly deaf, visited a Philips showroom and was captivated by the interactive displays of colored LED lighting. Intrigued by her daughter’s response to light, Rose called upon her mechanical engineering background and conceptualized and launched LightAide, a teaching tool for children with low vision and cognitive disabilities that uses interactive displays of color to introduce literacy and mathematical concepts.

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Stopping blindness: The drug-eluting contact lens

drug-eluting contact lens
(John Earle Photography)

Growing up, my grandmother’s eyes were always a problem. For years, she was losing her central vision to glaucoma, and numerous surgeries and treatments did not seem to help. Later in life, she could not see my face but could always tell who I was when I was close.

Glaucoma is the leading cause of irreversible blindness worldwide. While FDA-approved medications such as latanoprost can prevent vision loss by reducing pressure in the eye, their beneficial effects are limited by poor patient compliance: At six months of treatment, compliance is estimated to be little more than 50 percent.

Why? First, the medications are typically delivered as eye drops, and the drops themselves can cause stinging and burning. The drops also contain preservatives that can cause ocular surface disease.

Perhaps most importantly, latanoprost and other glaucoma drugs halt the disease’s progression but do not reverse it. Taking the drugs does not provide positive feedback that will motivate patients, such as relieving pain.

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Regrowing corneas: It’s all about finding the stem cells

A restored cornea grown from human ABCB5-positive limbal stem cells
A restored, clear cornea grown from ABCB5-positive limbal stem cells. (Image courtesy of the researchers)
Severe burns, chemical injury and certain diseases can cause blindness by clouding the eyes’ corneas and killing off a precious population of stem cells that help maintain them. In the past, doctors have tried to regrow corneal tissue by transplanting cells from limbal tissue—found at the border between the cornea and the white of the eye. But they didn’t know whether the tissue contained enough of the active ingredient: limbal stem cells.

How cancer research led to a regenerative treatment for blindness.

Results have therefore been mixed. “Limbal stem cells are very rare, and successful transplants are dependent on these rare cells,” says Bruce Ksander, PhD, of the Massachusetts Eye and Ear/Schepens Eye Research Institute. “If you have a limbal stem cell deficiency and receive a transplant that does not contain stem cells, the cornea will become opaque again.”

Limbal stem cells have been sought for over a decade. That’s where a “tracer” molecule called ABCB5—first studied in the context of cancer—comes in.

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First light: Vision restored in blind mice

Regenerating nerve fibers from the retina (shown in red) are seen coming into the dorsal lateral geniculate nucleus, a principal visual relay area of the brain.

Some kinds of vision loss are reversible: Lucentis and Avastin can restore some visual acuity in macular degeneration, and gene therapy in the eye has had success in genetic forms of blindness like Leber’s hereditary neuropathy, affecting light receptors in the retina. But when the optic nerve is damaged – from a traumatic injury or from glaucoma — all bets are off. The eyes may take in visual information, but it can’t get to the brain. It’s the end of the road.

Larry Benowitz, PhD, and other neurobiologists at Boston Children’s Hospital and elsewhere have tried for years to rebuild that road. Regeneration of the optic nerve, and in the central nervous system in general, was once thought impossible. But through patient tinkering to coax natural growth signals and silence growth-inhibiting signals, neurons in the retina – known as retinal ganglion cells — began to grow a bit into the optic nerve. Then a bit more.

In a 2010 paper, Benowitz’s team combined their top three interventions, and showed a synergistic effect – the greatest growth of optic nerve fibers (axons) to date. But no one had been able to demonstrate recovery of vision after severe optic nerve damage – until now.

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Deconstructing vision: Motion, critical windows and curing blindness in India

(luisar/Flickr)

What if blind eyes could see? What does that mean?

That’s the question neuroscientist Pawan Sinha and his team at MIT has begun to answer in a uniquely humanitarian and scientific endeavor.

Project Prakash (named for the Sanskrit word for “light”) intended, at first, to cure blind children in India. It’s a noble effort, given that India has the world’s highest population of blind people, less than half of whom survive to their third birthday and less than one percent of whom are employable.

Sinha’s team screened 20,000 blind Indian children and treated 700 of them for correctable problems such as cataracts. As Sinha recounted at last month’s One Mind for Research forum, these 700 children now can see.

Sort of.

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More accolades for omega 3’s

Omega-3’s are emerging superheroes in the nutrition world. Over two decades ago, scientists noticed that Greenland Eskimos had very low rates of coronary heart disease compared to Western populations. Their secret, it turned out, was eating fish—particularly, fatty fishes like salmon that contain a lot of omega-3 fatty acids.

An avalanche of studies have since demonstrated the cardiovascular health benefits of omega-3 fatty acids, also found in flax seeds and walnuts, as well as suggesting benefits in combating depression, rheumatoid arthritis and some types of cancer, and in boosting cognitive function.

And now comes more evidence that they can prevent blindness.

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A simple screening test that could save children’s vision

Hunter hopes to make amblyopia screening routine for all preschoolers.

Children with “lazy eye,” or amblyopia, have structurally intact eyes that may appear normal. But one eye isn’t used, generally because of a subtle misalignment. Unless someone notices this early enough, the “lazy” eye can slowly go blind, simply because the brain hasn’t received proper stimulation from it. It’s learned to ignore input from that eye.

“While amblyopia is easy to treat if you get to the kids early, it’s hard for us as ophthalmologists to get to the kids early because often the condition isn’t detected in the pediatric office,” says David Hunter, chief of ophthalmology at Children’s Hospital Boston.

Treatment consists of patching the sound eye, forcing the child to use the weaker eye. Ideally, this should be started before age 5, when the brain is still able to relearn; once a child reaches 8 to 10 years it’s often too late to restore his vision.

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