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Breakthrough announced in hereditary condition that causes blindness

By Catholic Online (NEWS CONSORTIUM)
7/11/2014 (3 years ago)
Catholic Online (

Stem cells used in study of retinitis pigmentosa to identify faulty genes

Retinitis pigmentosa, or RP is an inherited, degenerative eye disease that causes severe vision impairment and frequently leads to blindness. Affecting around one in 3,000 to 4,000 people, scientists have moved closer to a breakthrough in "personalized" treatments for a leading cause of blindness.

The age at which symptoms start is variable and the rate of deterioration often varies. In around half of all cases there are other family members with the condition.

The age at which symptoms start is variable and the rate of deterioration often varies. In around half of all cases there are other family members with the condition.


By Catholic Online (NEWS CONSORTIUM)
Catholic Online (
7/11/2014 (3 years ago)

Published in Health

Keywords: Retinitis pigmentosa, night blindness, research

LOS ANGELES, CA (Catholic Online) - Individual gene therapies are being used to determine the factors which triggers inherited vision loss.

Researchers used "induced" stem cells, which were taken from ordinary skin cells to investigate patient-specific causes of RP. 

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By testing retinal cells created from the stem cells in the laboratory, scientists linked RP in two patients to mutations in a gene called MFRP. They then then used a virus to deliver normal copies of the gene into the retinal cells and restore their function.

The gene therapy was used in further experiments to rescue the vision of genetically modified mice with RP caused by the same problem.

"The use of patient-specific cell lines for testing the efficacy of gene therapy to precisely correct a patient's genetic deficiency provides yet another tool for advancing the field of personalized medicine," lead scientist Professor Stephen Tsang, from Columbia University in New York, says.

Symptoms of retinitis pigmentosa become apparent from early childhood, while others may not know they have it until later in life. Caused by abnormalities of the eye's photoreceptors or the pigmented cell later or the retina, the condition leads to gradual sight loss.

Those with the disease can experience night blindness while others will lose central vision causing the person to look sidelong at objects. RP is one of the most common forms of inherited loss in vision.

The age at which symptoms start is variable and the rate of deterioration often varies. In around half of all cases there are other family members with the condition.

The condition has been a difficult for researchers as 60 different genes have been linked to RP, making it a difficult disease to study.

Symptoms typically begin with night blindness after which peripheral vision is lost.


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