February 16, 2017

Gene Therapy Helped Restore Vision in Children

Double HelixIn the past decade, a lot of research has gone into gene therapy and its benefits to medical science. So far this type of treatment has been used to cure cases of adult leukemia and lung infections. Now gene therapy has been proven to help restore vision in blind children.


The Disease:

The condition is known as Leber’s congenital amaurosis. This rare inherited sight disorder is a form of retinal degeneration that causes blindness in children when they reach as young as 30 years of age. In all cases children with this condition will typically have severe vision defects caused by the mutation of one of the 13 genes that causes the condition.

Leber’s congential amaurosis affects 1 in 80,000 children. The children will show symptoms anywhere from birth to within the first few months of life. LCA is typically suspected when a child shows symptoms of nystagmus or involuntary eye movement, slow or no pupillary response, or vision loss or blindness. Once LCA is suspected, gene testing can determine if the child is suffering from the condition.


In the past, treatment for LCA was limited and unresponsive in many cases. However, breakthroughs in gene therapy have yielded positive results. The first of which was during testing in 2008, when 3 clinical trials demonstrated the effectiveness of adeno-associated virus to restore vision in patients. This type of gene therapy was shown to be safe and was continued in testing.

In 2009 another clinical trial using gene replacement therapy improved the vision in 12 patients with ages ranging from 8-44 years of age. The treatment was more effective in younger patients as early detection allowed for better success. In all the patients, vision was restored to a level where they were able to see and walk around without aide.

One clinical trial included an 8 year old boy. His vision was restored to almost perfect light sensitivity. He was the most responsive patient and gave hope to the future of the therapy. With just a single injection the patients all saw results that improved their vision. For researchers this is giving them more of a direction to detect and treat LCA earlier to get better results.

In the early years of gene therapy, there were failures that caused most to dismiss the treatment method as unrealistic. Since 2009, the success gene therapy has shown not only in vision loss, but in other genetic mutations has restored the faith and caused further research into the possibilities it holds.

Sara Roberts is a content contributor for Just Eyewear, a site that offers low cost options for prescription eyeglasses.

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