Gene Therapy as a Treatment for Inherited Retinal Disorders

Abstract

One of the leading causes of vision loss and blindness in individuals is inherited retinal disorders, commonly known as IRD’s. For years doctors and researchers have sought to uncover a treatment that would halt the progression of these debilitating diseases. One of the most promising treatments that has been researched is gene therapy. Gene therapy is designed to introduce genetic material into cells to compensate for abnormal genes by making a beneficial protein by providing the necessary gene to restore the function of the protein. The gene is transferred using a carrier called a vector which is genetically engineered to deliver the gene. There have been gene therapy trials for a wide expanse of diseases such as cancer, hemophilia, Duchenne muscular dystrophy, autoimmune disorders, cardiovascular disease, and many more. Clearly gene therapy is the future of medicine, so understanding how gene therapy works is essential for healthcare workers. As a future optometrist, I was drawn towards understanding how gene therapy has had an effect on treating inherited retinal disorders especially since I hope to focus my studies on ocular disease. The eye has certain important features which makes it an optimal target for gene therapy, which is a reason why researchers have been successful in creating a gene therapy treatment called RPE65 gene therapy to treat Leber’s Congenital Amaurosis. Since the accomplishment of creating the gene therapy drug for Leber’s Congenital Amaurosis, researchers have sought to replicate this therapy for other inherited retinal disorders while also finetuning certain features of the treatment to create an even better drug. Additionally, in the past decade there has been advances made in genomic editing and a new technology called CRISPER-Cas9 has arose that can cause gene correction, gene disruption, or gene integration. Through understanding the background of gene therapy and how it specifically targets the eye, then delving into the effect it has had on several inherited retinal disorders, and what my role as a future Optometrist will be in helping patients with IRD’s, I hope to convey the important role gene therapy has in both the world of eyecare and medicine at large.