Researchers from the University of Florida have developed a new gene therapy method with the potential to treat a common form of blindness that strikes both youngsters and adults.
The researchers tackled a condition called X-linked retinitis pigmentosa, a genetic defect that is passed from mothers to sons. Girls carry the trait, but do not have the kind of vision loss seen among boys. About 100,000 people in the U.S. have a form of retinitis pigmentosa, which is characterized by initial loss of peripheral vision and night vision, which eventually progresses to tunnel vision, and then blindness. In some cases, loss of sight coincides with the appearance of dark-colored areas on the usually orange-colored retina.
The technique works by replacing a malfunctioning gene in the eye with a normal working copy that supplies a protein necessary for light-sensitive cells in the eye to function.
Imagine that you can’t see or can just barely see, and that could be changed to function at some levels so that you could read, navigate, maybe even drive — it would change your life considerably,” said study co-author William W. Hauswirth, Ph.D., the Rybaczki-Bullard professor of ophthalmology in the UF College of Medicine and a professor and eminent scholar in department of molecular genetics and microbiology and the UF Genetics Institute. “Providing the gene that’s missing is one of the ultimate ways of treating disease and restoring significant visual function.”
The X-linked form of retinitis pigmentosa addressed in the new study is the most common, and is caused by degeneration of light-sensitive cells in the eyes known as photoreceptor cells. It starts early in life, so though affected children are often born seeing, they gradually lose their vision.
And while this therapy is many years away, any advancement in the treatment prevention of blindness is worth mentioning.