Hüseyin Baran ÖZDEMİR, Şengül ÖZDEK
Retina-Vitreus - 2026;35(3):205-218
Inherited retinal diseases (IRDs) comprise a genetically and phenotypically heterogeneous group of disorders that can cause irreversible vision loss. The approval of voretigene neparvovec-rzyl for RPE65-associated retinal dystrophy has advanced retinal gene therapy from experimental research to clinical practice. This review summarizes adeno-associated virus vector technologies, capsid engineering, and preclinical model systems and evaluates current clinical evidence across major gene-specific programs for IRDs. CRISPR/Cas-based gene editing, antisense oligonucleotides, RNA-based therapies, optogenetics, cell replacement, and nonviral delivery systems are also discussed. Available evidence indicates that functional improvement or disease stabilization may be achieved in genetically eligible patients when sufficient viable target cells remain. However, variable efficacy, procedure-related risks, immune responses, ongoing retinal degeneration, cost, and limited access remain major challenges. Early molecular diagnosis, standardized functional endpoints, improved vector targeting, and long-term follow-up with real-world outcome monitoring will be central to broader clinical implementation.
