An interesting article popped up on WebMD last week: “Gene Therapy May Help Against Rare Blinding Disease.” According to a clinical trial published in The Lancet, gene therapy helped improve vision in six male patients with Choroideremia, a rare degenerative eye disease. This was especially true for two patients with advanced choroideremia.
“In truth, we did not expect to see such dramatic improvements in visual acuity and so we contacted both patients’ home opticians to get current and historical data on their vision in former years, long before the gene therapy trial started,” said lead author Robert MacLaren of the Nuffield Laboratory of Ophthalmology at the University of Oxford. “These readings confirmed exactly what we had seen in our study and provided an independent verification.”
Choroideremia causes the pigment cells in the retina to die off, shrinking the retina and reducing vision over time. This rare eye disease is caused by defects in the CHM gene on the X chromosome. Because of this, most patients with the choroideremia are male.
This rare degenerative eye disease affects about one in every 50,000 people.
Gene Therapy may help with Choroideremia
Dr. Mark Fromer, an ophthalmologist at Lenox Hill Hospital in New York City, believes gene therapy is the future of choroideremia treatment. Gene therapy could be used to prevent blindness by fixing defective genes in patients before the eye disease can take root. This, Dr. Fromer believes, is true for choroideremia as well as other eye diseases, such as macular degeneration (AMD) or retinitis pigmentosa (RP).
The main Message is one of hope for the future. If this therapy leads to improved diagnoses and treatment of AMDor RP, this would be a great benefit for many millions of patients.
“This is something that we’ve been trying to accomplish for years in retinal science, and it’s very encouraging,” said Fromer. “We’ll go from putting a Band-Aid on the lesion to preventing it from happening. This is a new pathway to fix things before they get broken.”
Of course, the key is early detection. This is why it is so important to have your eyes examined regularly. The American Optometric Association (AOA) recommends that adults, ages 18-60, have their eyes examined every two years, while adults older than 60 have their eyes examined annually.
Early detection means early and more effective treatment.
If you have any questions about how Gene Therapy may help with Choroideremia, a Rare Degenerative Eye Disease, or wish to schedule an appointment with Anne Arundel Eye Center, please contact board certified ophthalmologist Dr. Samuel Boles, Dr. Corinne Casey, and the eye care specialists here at AAEC by calling 410-224-2010 or visiting AnneArundelEyeCenter.com
For more eye care advice and information, please take a look at our previous blog posts.