Gene Therapy for Inherited Retinal Diseases

Inherited retinal diseases (IRDs) represent a diverse group of rare, predominantly monogenic disorders characterized by progressive degeneration of photoreceptors and/or the retinal pigment epithelium, ultimately leading to irreversible visual impairment or blindness. Affecting approximately 1 in 3,000–4,000 individuals worldwide, IRDs constitute a major cause of childhood and early-onset blindness. Advances in molecular genetics, next-generation sequencing, and ocular drug delivery systems have transformed the diagnostic and therapeutic landscape of these conditions. Among emerging modalities, gene therapy has demonstrated unprecedented potential to address the underlying molecular defects responsible for retinal degeneration. The approval of voretigene neparvovec-rzyl for RPE65-associated Leber congenital amaurosis established proof-of-concept for retinal gene augmentation and catalyzed rapid progress in the field. This review discusses the genetic and molecular basis of IRDs, principles of ocular gene therapy, vector platforms, delivery routes, clinical applications, genome editing technologies, and future challenges.