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Medical Minute 9-26: Eye-Opening Gene: The Key to Treating Blindness?

By: Vanessa Welch Email
By: Vanessa Welch Email

Being near the ocean helps Betti Lidsky keep her focus.
"It's just helped me a lot to emotionally deal with this challenge."
She's had her sights set on finding the cause of her children's blindness for nearly two decades. Three of Betti's four adult children were all diagnosed with retinitis pigmentosa in their teens.

"From the moment they were diagnosed, our mission was to find the answers," said Betti Lidsky, Mother.

That's where researchers at the University of Miami come in. This is what a healthy eye looks like. Compare that to one of the Lidsky's eyes.

More than 50 genes are known to be responsible for R-P, but none of them caused it in the Lidsky family. To find the gene, researchers used whole exome sequencing. The new technology can decode the one to two percent of the genome that contains protein-coding genes.

"Over the next few years, we'll see a lot of families like the Lidskys who will get to know what is actually causing their problem, and once we have that, then it will certainly move us ahead toward therapies," said Jeffery Vance, Ph.D., M.D., University of Miami Miller School of Medicine.

"It was very wonderful news. Privately, we cried a lot, and we called the kids right away."

Now, grown with their own families, the Lidsky kids are hopeful for the future.

"We're thrilled. We couldn't be more excited about it."

"Treatments and cures premised upon genetic therapies or the knowledge of our genome now becomes a possibility," said Isaac Lidsky, has RP.

A discovery that's changed this family's life and could one day help many more.

For more information on other series produced by Ivanhoe Broadcast News contact John Cherry at (407) 691-1500, jcherry@ivanhoe.com.

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MEDICAL BREAKTHROUGHS - RESEARCH SUMMARY:

BACKGROUND: Retinitis pigmentosa (RP) is a rare, inherited disease in which the light-sensitive retina of the eye slowly and progressively degenerates. Eventually, blindness results. Rather than being considered a single disease, RP instead is viewed as a group of diseases affecting how light-sensitive cells in the back of the eye function. Not much is known about what causes RP, except that the disease is inherited.

The genes associated with the eye condition control traits that are passed along in a number of different ways. At times, the genetic trait is dominant and likely to be passed along to a child when a parent has RP. At other times, the trait for RP is recessive. When the trait is dominant, it is more likely to show up when people are in their 40s. When the trait is recessive, it tends to first appear when people are in their 20s. (SOURCE: http://www.allaboutvision.com)

SYMPTOMS: The first signs of retinitis pigmentosa usually occur in early childhood, when both eyes typically are affected. Night vision can be poor, and the field of vision may begin to narrow. When RP first starts to appear, the light-sensing cells that are responsible for vision in dim light (rods) gradually deteriorate, and seeing at night becomes more difficult. During later stages, only a small area of central vision remains, along with slight peripheral vision. It's very difficult to predict the extent of vision loss or how fast it will progress when you have retinitis pigmentosa. (SOURCE: http://www.allaboutvision.com)

TREATMENT: There is no effective treatment for RP. Wearing sunglasses to protect the retina from ultraviolet light may help preserve vision. Controversial studies have suggested that treatment with antioxidants, such as vitamin A palmitate, may slow the disease from getting worse. Microchip implants that go inside the retina are in the early stages of development for treating blindness associated with this condition. It can help to see a low-vision specialist. Patients may want to make regular visits to an eye care specialist who can screen for cataracts or retinal swelling, both of which can be treated. (SOURCE: http://health.nytimes.com/health/)

FOR MORE INFORMATION, PLEASE CONTACT:
Omar Montejo
Media Relations
University of Miami Miller School of Medicine
(305) 243-5654
OMontejo@med.miami.edu


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