Leber congenital amaurosis is an inherited retinal disease that can cause blindness. This rare eye disorder can cause severe vision loss among infants, affecting two to three infants per 100,000 births. Fortunately, new medical treatment for this condition has recently been developed. In today’s post, your glaucoma doctor from EyeSite of The Villages discusses how gene therapy can help treat inherited retinal problems.
Understanding Leber Congenital Amaurosis
The retina is a specialized tissue at the back of the eye that detects light and color. Leber congenital amaurosis attacks this part of the eye, causing severe visual impairment. It’s considered an inherited degenerative disease, wherein both of the parents of the affected child carry a defective gene, including the RPE65 gene. Scientists have identified 14 genes with mutations that can cause this eye condition.
Patients diagnosed with Leber congenital amaurosis have reduced vision at birth. During infancy, parents may notice a lack of visual responsiveness and unusual eye movement. Typical eye exams conducted by a cataract doctor, however, may reveal normal retinas during eye exams. Electroretinography tests, however, may detect little if any activity in the retina.
Introduction to Gene Therapy
In 2009, Israeli researchers found a herd of Awassi sheep that suffered from day blindness. They began gene therapy trials for the sheep. The treatment included injecting a virus that carries a normal copy of the missing gene. The treated sheep regained their day vision, while the untreated remained visually impaired.
How Gene Therapy Can Help
After successful clinical trials, gene therapy has been approved by the Food and Drug Administration to treat Leber congenital amaurosis. This therapy doesn’t restore normal eyesight; instead, it allows patients to see shapes and light. It involves injecting a healthy version of the affected gene in the retina, which helps detect light and convert it into visual signals for the brain to interpret.
Turn to the EyeSite of The Villages’ glaucoma doctor to help diagnose different eye conditions. We offer comprehensive eye exams to gauge your vision health. Call us today at (352) 504-4560 to schedule an appointment. We serve residents of Lady Lake and Fruitland Park, FL.