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Although LCA typically leads to progressive loss of all vision, new advances in gene therapy offer hope for some patients.Voretigene neparvovec-rzyl (Luxturna(TM)) is the gene therapy product injected underneath the retina, allowing a new, functional copy of the gene to pass into the appropriate cells.Luxturna(TM) requires a common retina surgery procedure called a vitrectomy, and must be done by an ophthalmologist with experience in injecting genes under the retina.This new therapy involves implanting new genes into the abnormal retinal cells to correct the defective gene.A defect in this gene can cause LCA in some patients as well as retinitis pigmentosa (RP) in others.Recently, gene therapy has become available for patients with mutations in both copies of the RPE65 gene.RP is a disease similar to LCA that occurs later in life.It is the first gene therapy approved by the US Food and Drug Administration (FDA) to treat a disease.

Although LCA typically leads to progressive loss of all vision, new advances in gene therapy offer hope for some patients. This new therapy involves implanting new genes into the abnormal retinal cells to correct the defective gene.
Recently, gene therapy has become available for patients with mutations in both copies of the RPE65 gene. A defect in this gene can cause LCA in some patients as well as retinitis pigmentosa (RP) in others. RP is a disease similar to LCA that occurs later in life.
Voretigene neparvovec-rzyl (Luxturna™) is the gene therapy product injected underneath the retina, allowing a new, functional copy of the gene to pass into the appropriate cells. It is the first gene therapy approved by the US Food and Drug Administration (FDA) to treat a disease. Luxturna™ requires a common retina surgery procedure called a vitrectomy, and must be done by an ophthalmologist with experience in injecting genes under the retina.
This treatment has been shown to improve vision in patients who have received it, as tested by their ability to navigate an obstacle course in low light conditions termed “multi-luminance mobility testing” (MLMT). While Luxturna™ does not completely restore vision, the improvement noted in clinical trials can be beneficial for patients with extreme vision loss. The visual improvement is stable over at least a few years.
Because this therapy is so new, many patients who are eligible for the treatment do not know about it. The FDA has approved Luxturna™ for patients 1 year of age or older. The most important first step is obtaining a diagnosis of LCA or RP, and then performing genetic testing to determine if there is a defect in both RPE65 genes.
Patients must also have enough remaining functional retina so treatment can stabilize or restore vision. Because younger patients may benefit more from the treatment, it is important for these children to be diagnosed as early as possible.
Once the diagnosis is made, a retina specialist who is an expert in inherited retinal diseases can refer the patient to a treatment center. Eventually, through further research, it is expected that gene therapy could help individuals with other gene mutations.
Other LCA treatments involve artificial implants to bypass the non-functioning photoreceptor cells.