Dawn of a New Era – Gene Therapy FDA Approved to Treat One Form of Blindness

Written by: Cypress HomeCare Solutions


We’d like to recognize and thank Dr. Daniel Adelberg for generously sharing his knowledge with us through this column.  Dr. Adelberg’s motivation to preserve and restore vision is personal.  This dedication was inspired by two family members who are blind from hereditary retinal degeneration.  He has over 30 years of experience since graduating from Boston University School of Medicine in 1988 in currently has practices in Mesa, Casa Grande, Scottsdale and Sun City.

A gigantic breakthrough in Medicine and Ophthalmology occurred last month on December 19, 2017 as the U.S. Food and Drug Administration approved Luxturna (voretigene neparvovec-rzyl) to treat children and adults with an inherited form of vision loss that often results in blindness.  Luxturna is the first gene therapy approved in the US that is used to treat a disease caused by a specific genetic defect.  Luxturna is manufactured by Spark Therapeutics in Philadelphia.

There are several hundred thousand patients in the United States that are born with a genetic mutation that leads to an inherited retinal disease which leads to vision loss and potential blindness.  There have been more than 220 different genes associated with genetic retinal disorders, and this particular gene therapy is limited to just one of these mutations, the RPE65 mutation.  A patient with an inherited retinal dystrophy can now have genetic testing with either a blood or saliva sample and a laboratory investigation can determine if one of the known mutations are found.  If the RPE65 variant is found, the patient would be a candidate for this treatment.

Gene therapy works by fixing or replacing the abnormal genetic code.  The current technique involves the attachment of the normal healthy gene to a modified virus.  The surgeon injects the virus with the healthy gene into the retina, and the virus spreads the healthy gene into the retinal cells to repair the genetic error. In a study of 31 patients with RPE65 associated retinitis pigmentosa and blindness, the patients with gene therapy with Luxturna had major improvements in mobility and their ability to complete an obstacle course.

This enormous advance should accelerate the development of gene therapy for other inherited retinal diseases, and opens the door for treatment for many other challenging  diseases including glaucoma and macular degeneration.


Daniel A. Adelberg M.D.

Ophthalmologist and VitreoRetinal Surgeon

Southwestern Eye Center



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