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Am J Med Genet C Semin Med Genet. 2016 Dec;172(4):349-366. doi: 10.1002/ajmg.c.31534. Epub 2016 Nov 8.

Gene and cell-based therapies for inherited retinal disorders: An update.


Retinal degenerations present a unique challenge as disease progression is irreversible and the retina has little regenerative potential. No current treatments for inherited retinal disease have the ability to reverse blindness, and current dietary supplement recommendations only delay disease progression with varied results. However, the retina is anatomically accessible and capable of being monitored at high resolution in vivo. This, in addition to the immune-privileged status of the eye, has put ocular disease at the forefront of advances in gene- and cell-based therapies. This review provides an update on gene therapies and randomized control trials for inherited retinal disease, including Leber congenital amaurosis, choroideremia, retinitis pigmentosa, Usher syndrome, X-linked retinoschisis, Leber hereditary optic neuropathy, and achromatopsia. New gene-modifying and cell-based strategies are also discussed.


CRISPR; Usher syndrome; achromatopsia; choroideremia; gene therapy; iPSCs; leber congenital amaurosis; leber hereditary optic neuropathy; retinal degeneration; retinitis pigmentosa; retinoschisis; stem cells

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