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J Clin Invest. 2018 Jun 1;128(6):2177-2188. doi: 10.1172/JCI120429. Epub 2018 Jun 1.

Gene therapy and genome surgery in the retina.

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Jonas Children's Vision Care and Bernard and Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative, Departments of Ophthalmology, Pathology and Cell Biology, Institute of Human Nutrition, College of Physicians and Surgeons, Columbia University, New York, New York, USA.
Edward S. Harkness Eye Institute, New York-Presbyterian Hospital, New York, New York, USA.
Omics Laboratory, Byers Eye Institute, Department of Ophthalmology, Stanford University, Palo Alto, California, USA.
Veterans Affairs Palo Alto Health Care System, Palo Alto, California, USA.


Precision medicine seeks to treat disease with molecular specificity. Advances in genome sequence analysis, gene delivery, and genome surgery have allowed clinician-scientists to treat genetic conditions at the level of their pathology. As a result, progress in treating retinal disease using genetic tools has advanced tremendously over the past several decades. Breakthroughs in gene delivery vectors, both viral and nonviral, have allowed the delivery of genetic payloads in preclinical models of retinal disorders and have paved the way for numerous successful clinical trials. Moreover, the adaptation of CRISPR-Cas systems for genome engineering have enabled the correction of both recessive and dominant pathogenic alleles, expanding the disease-modifying power of gene therapies. Here, we highlight the translational progress of gene therapy and genome editing of several retinal disorders, including RPE65-, CEP290-, and GUY2D-associated Leber congenital amaurosis, as well as choroideremia, achromatopsia, Mer tyrosine kinase- (MERTK-) and RPGR X-linked retinitis pigmentosa, Usher syndrome, neovascular age-related macular degeneration, X-linked retinoschisis, Stargardt disease, and Leber hereditary optic neuropathy.


Genetics; Ophthalmology; Retinopathy

[Available on 2019-06-01]
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