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Research to Prevent Blindness

Retinitis Pigmentosa

A SiGHT-restoring Treatment

RPB researchers have uncovered causes of retinitis pigmentosa and creating a ground-breaking treatment!

Since 1992, RPB-supported researchers have been looking for a cure for  RP-related diseases. In 2017, the gene therapy Luxturna was approved by the U.S. Food and Drug Administration (FDA) to treat children and adults with two mutations in the RPE65 gene. An RPB Career Development Awardee administered the very first treatment.

Learn more about how it works by clicking here.

The term retinitis pigmentosa (RP) refers to a group of hereditary diseases, all of which eventually result in severe vision loss. Some of the diseases in the RP family are Usher syndrome, Lebers congenital amaurosis, rod-cone disease, Bardet-Biedl syndrome, and Refsum disease. Approximately 100,000 people in the U.S. have RP.  Symptoms usually surface during adolescence or young adulthood, although some RP diseases are apparent even in infants. RP progresses at different rates in individuals, but most people with RP are legally blind by age 40. Some forms of retinitis pigmentosa are associated with other disabilities, such as deafness in people with Usher syndrome.  

Stained photoreceptor cells and retinal nerve cells

"Precursor" photoreceptor cells have been stained green and introduced to the layer of retinal nerve cells (in red) that transmit visual information Photo courtesy of Anand Swaroop, PhD, and Masayuki Akimoto, PhD, University of Michigan School of Medicine

 

 

 

Findings by researchers working with the grant support of Research to Prevent Blindness (RPB) lead to the discovery that RP symptoms are caused by the death of cells in the retina. The retina is a light detecting layer inside the eye that sends visual images to the brain. In most cases of RP, retinal cells called rod photoreceptors are the first to die, followed by cone photoreceptors. Rods are concentrated in the periphery of the retina. They help us see in dim light. Therefore, as the death of rod cells advances, night vision and then peripheral vision progressively disappear. In fact, night blindness is an early symptom of RP.  When cones die first, central vision and color vision are impacted before peripheral vision.

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Related News: Retinitis Pigmentosa

Retina of a person with retinitis pigmentosa

Understanding Usher Syndrome: New Findings

RPB-supported researchers make progress in characterizing the genetic components of Usher syndrome.

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Edited Stem Cells Offer Hope for RP Therapy

Findings raise the possibility of treating blinding eye diseases using a patient's own corrected cells as replacement tissue

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Dr. Tsang

Renewed Hope for Gene Therapy to Restore Vision

Findings indicate that retinitis pigmentosa is treatable even at advanced disease stages.

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Dr. Gamm stem cell researcher
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RPB Accelerates Retinitis Pigmentosa Research with Awards to Leading Scientists

RPB is providing $500,000 to accelerate the development of treatments for Retinitis Pigmentosa (RP) -- a family of retinal diseases that progressively create extreme tunnel vision, loss of night vision and leave...

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Dr. Jean Bennett

Gene Therapy Proven Effective for Patients with Inherited Retinal Disease

Researchers have used gene therapy to safely restore vision in three young adults with a form of retinitis pigmentosa known as Leber's congenital amaurosis (LCA), an inherited retinal disorder that reduces...

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