Gene Therapy for Treatment of Retinal Disease

I n the 1990s, gene therapy emerged as a novel strategy for treatment of human diseases. Early attempts at gene therapy in the United States centered on treatment of severe combined immunodeficiency due to adenosine deaminase deficiency, ornithine transcarbamylase deficiency, and hemophilia. Early setbacks gave way to later successes, resulting in increased acceptance of the concept of genetic therapy for treatment of human disease. In ophthalmology, early efforts in gene therapy focused on treatment of inherited monogenic diseases such as Leber congenital amaurosis (LCA). Subsequent studies investigated the use of gene therapy for, among others, Usher syndrome 1B, choroideremia, and Leber hereditary optic neuropathy (LHON). Recently, attention has expanded to encompass the use of genetic therapy for more common and multifactorial eye diseases such as age-related macular degeneration (AMD) and diabetic retinopathy. Many preclinical and clinical studies that employ genetic therapeutic techniques are under way, with promising results. New treatment approaches for retinal disease by way of genetic therapy have important implications. Ultimately, these techniques may complement or supplant existing approaches to treating retinal disease.