While gene therapy was advancing, it became evident that some tissues are more amenable than others to be targeted by gene delivery. Among them is the eye, which offers several advantages. Retinal gene therapy has advanced considerably in the past three decades. Initial efforts have been devoted to comprehensively explore and optimize the transduction abilities of gene delivery vectors, define the appropriate intraocular administration routes and obtain evidence of efficacy in animal models of inherited retinal diseases (IRDs).1
Fig. 1: Schematic representation of the retina and pattern of expression of retinal genes. Genes for which gene therapy approaches are in clinical testing are indicated in bold. RPE: retinal pigment epithelium.1
Inherited retinal dystrophies (IRDs) include a number of rare disorders caused by genetic defects. These disorders lead to progressive retinal degeneration. IRDs are well suited for gene therapy as the underlying mutations are well understood. In addition delivery of the therapeutic via AAVs or LVs has proven to work. The development of ocular gene therapy over the prior two decades has mainly targeted hereditary retinal diseases because the genetics of many of these diseases have been well characterized and treatment options for these rare diseases are limited.
The most common IRDs are:3
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McClements et al. investigate use of dual vector approach for AAV Gene Therapy of Stargardt disease. anti-ABCA4 antibody (ABIN343052) cited in Human Gene Therapy Vol. 30, No. 5. (2019)
The achievements in clinical trials investigating gene therapy for inherited ocular diseases have prompted the research community to use gene therapy to manage some of the most common nonhereditary ocular diseases, particularly diseases for which the current treatments are eﬀective but are not sustainable in the long term, such as glaucoma, neovascular age-related macular degeneration (AMD), and diabetic retinopathy. Although these diseases involve multiple genes and are more complex and heterogeneous, progress has been made towards treatments in humans.
The most common non-hereditary diseases are:3