Gene Therapy: A Pro-Con Analysis

Only recently becoming recently marketed, gene therapy has been researched for over two decades. Comprised of ten thin layers that function together to give animal life sight through light detection. These layers, much like any other tissue in the body, perform their specific functions when their associated genes encode proteins necessary for use. Even the mutation of one gene can disrupt various life functions, including degenerative blindness when a gene of the eye is involved. In December 2018, the Food and Drug Administration approved the first-ever gene therapy, Luxturna, to treat the specific genetic mutation found in patients with a rare vision abnormality called Leber’s Congenital Amaurosis, (FDA, 2017). Although the potential for the expansion of gene therapy is promising, with it comes risks and significant costs, both physically and financially.

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Structural-Functional Correlates in Inherited Retinal Degenerations


The retina is made of several layers and structures with numerous functions that combine to detect light, giving animals sight. Genes work by encoding proteins to perform specific functions; within the retina and when a gene mutation is present, structures and functions of the retina degenerate. Luxturna is an FDA-approved medication developed to treat the RPE65 mutation via intraretinal injection by encasing genes in the shell of a virus that attaches to retinal cells. Genes are delivered to the cells after the virus breaks the cellular wall, enabling them to reproduce copies of healthy RPE65. There is currently no FDA-approved treatment for the RDH12 mutation but researchers are working on developing a drug similar to the Luxturna model. The current model for gene therapy treatment involves injecting medication into the retina above or below the fovea where the structure is most preserved. By altering where the drug is injected, with respect to retinal preservation, patients may experience a better visual outcome postoperatively.

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