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The complexity of the photoreceptor cell, in terms of protein structure and the high energy environment required for phototransduction, makes it highly susceptible to cell death. This can be a result of a wide spectrum of mutations, some of which are not deleterious to any other cell type (e.g. changes in splicing factors like PRPF31). The surgical accessibility of the eye, the ability to image the retina at histological levels of accuracy and the capacity to perform complex visual function tests and compare them to a fellow ‘control’ eye make the retina an ideal target for assessing gene therapy. This chapter discusses retinal gene therapy and outlines an approach to clinical trials for genetic ophthalmic diseases.

Original publication





Book title

Clinical Ophthalmic Genetics and Genomics

Publication Date



63 - 66