ArtsAutosBooksBusinessEducationEntertainmentFamilyFashionFoodGamesGenderHealthHolidaysHomeHubPagesPersonal FinancePetsPoliticsReligionSportsTechnologyTravel

Rare Form of Blindness Cured by Gene Therapy

Updated on October 24, 2009

Leber Congenital Amaurosis

Amaurosis is Greek for darkening or obscuring. Amaurosis is a blindness caused by the weakening of the optic nerve or it could be caused by rapid acceleration.

Congenital means at birth.

Leber Congenital Amaurosis is caused by a genetic condition causing the optic nerve to weaken over time. It is an inherited condition that shows up at birth or within a few month of birth. it affects roughly 0.00125% of the world population or one in eighty thousand (1:80,000) individuals.

It is named after Theodore Leber who first described the condition in the 19th century. It is a disorder affecting both males and females equally (autosomal) and is thought to cause stunted development of photoreceptors in the eye.

Experimental Gene Therapy

Gene therapy for a rare inherited disease called Leber congenital amaurosis (LCA) helped twelve (12) patients regain better vision.

Dr. Katherine High of the Children's Hospital of Philidelphia: "All 12 patients given gene therapy in one eye showed improvement in retinal function. This study reports dramatic results in restoring vision to patients who previously had no options for treatment. These findings may expedite development of gene therapy for more common retinal diseases, such as age-related macular degenration."

Researchers found that the younger the patient the better the response to the therapy. Though the initial purpose of the experimental therapy was to show it was safe, those that underwent the treatment showed remarkable effects.

These tests could also help restore an image of gene therapy that has taken a beating in recent years.

"The study by Bennett and co-workers will further boost gene therapy trials and provide hope for patients with inherited blindness and other genetic disorders," Dr Frans Cremers and Dr Rob Collin of Nijmegen Medical Center in the Netherlands wrote in a commentary.

A faulty gene means patients with LCA start to lose their vision in childhood. Up to now there has been no cure. High and her fellows worked with twelve volunteers aged eight to forty-four. To repair the faulty gene they designed a virus called adeno-associated virus. This virus is harmless to humans. The virus carried the corrected DNA directly into the eyes. TheĀ  gene, RPE65, is mutated in roughly sixteen (16%) of LCA patients.

The normal version of the gene restored the light sensitive pigments to the retina of those treated. Though this therapy did not restore normal eyesight in any of the patients, it did take about half of those treated out of the category "legally blind."

Treatment was administered via injection just behind the retina of patients in the study. To date the treatments have persisted for two years. Four of the children treated can now walk and ride bikes unassisted. Something they were not able to do before.

Expanded trials are now planned.

Comments

Submit a Comment

No comments yet.

working

This website uses cookies

As a user in the EEA, your approval is needed on a few things. To provide a better website experience, hubpages.com uses cookies (and other similar technologies) and may collect, process, and share personal data. Please choose which areas of our service you consent to our doing so.

For more information on managing or withdrawing consents and how we handle data, visit our Privacy Policy at: https://hubpages.com/privacy-policy#gdpr

Show Details
Necessary
HubPages Device IDThis is used to identify particular browsers or devices when the access the service, and is used for security reasons.
LoginThis is necessary to sign in to the HubPages Service.
Google RecaptchaThis is used to prevent bots and spam. (Privacy Policy)
AkismetThis is used to detect comment spam. (Privacy Policy)
HubPages Google AnalyticsThis is used to provide data on traffic to our website, all personally identifyable data is anonymized. (Privacy Policy)
HubPages Traffic PixelThis is used to collect data on traffic to articles and other pages on our site. Unless you are signed in to a HubPages account, all personally identifiable information is anonymized.
Amazon Web ServicesThis is a cloud services platform that we used to host our service. (Privacy Policy)
CloudflareThis is a cloud CDN service that we use to efficiently deliver files required for our service to operate such as javascript, cascading style sheets, images, and videos. (Privacy Policy)
Google Hosted LibrariesJavascript software libraries such as jQuery are loaded at endpoints on the googleapis.com or gstatic.com domains, for performance and efficiency reasons. (Privacy Policy)
Features
Google Custom SearchThis is feature allows you to search the site. (Privacy Policy)
Google MapsSome articles have Google Maps embedded in them. (Privacy Policy)
Google ChartsThis is used to display charts and graphs on articles and the author center. (Privacy Policy)
Google AdSense Host APIThis service allows you to sign up for or associate a Google AdSense account with HubPages, so that you can earn money from ads on your articles. No data is shared unless you engage with this feature. (Privacy Policy)
Google YouTubeSome articles have YouTube videos embedded in them. (Privacy Policy)
VimeoSome articles have Vimeo videos embedded in them. (Privacy Policy)
PaypalThis is used for a registered author who enrolls in the HubPages Earnings program and requests to be paid via PayPal. No data is shared with Paypal unless you engage with this feature. (Privacy Policy)
Facebook LoginYou can use this to streamline signing up for, or signing in to your Hubpages account. No data is shared with Facebook unless you engage with this feature. (Privacy Policy)
MavenThis supports the Maven widget and search functionality. (Privacy Policy)
Marketing
Google AdSenseThis is an ad network. (Privacy Policy)
Google DoubleClickGoogle provides ad serving technology and runs an ad network. (Privacy Policy)
Index ExchangeThis is an ad network. (Privacy Policy)
SovrnThis is an ad network. (Privacy Policy)
Facebook AdsThis is an ad network. (Privacy Policy)
Amazon Unified Ad MarketplaceThis is an ad network. (Privacy Policy)
AppNexusThis is an ad network. (Privacy Policy)
OpenxThis is an ad network. (Privacy Policy)
Rubicon ProjectThis is an ad network. (Privacy Policy)
TripleLiftThis is an ad network. (Privacy Policy)
Say MediaWe partner with Say Media to deliver ad campaigns on our sites. (Privacy Policy)
Remarketing PixelsWe may use remarketing pixels from advertising networks such as Google AdWords, Bing Ads, and Facebook in order to advertise the HubPages Service to people that have visited our sites.
Conversion Tracking PixelsWe may use conversion tracking pixels from advertising networks such as Google AdWords, Bing Ads, and Facebook in order to identify when an advertisement has successfully resulted in the desired action, such as signing up for the HubPages Service or publishing an article on the HubPages Service.
Statistics
Author Google AnalyticsThis is used to provide traffic data and reports to the authors of articles on the HubPages Service. (Privacy Policy)
ComscoreComScore is a media measurement and analytics company providing marketing data and analytics to enterprises, media and advertising agencies, and publishers. Non-consent will result in ComScore only processing obfuscated personal data. (Privacy Policy)
Amazon Tracking PixelSome articles display amazon products as part of the Amazon Affiliate program, this pixel provides traffic statistics for those products (Privacy Policy)