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Gene therapy and genome surgery in the retina
Open accessAbstract
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.
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“Currently, the non-pathogenic equine infectious anemia virus (EIAV) is in clinical trials to treat Usher Syndrome [50] and Stargardt disease [51,52].”
From The Ocular Gene Delivery Landscape (2021) · cites this paper as [50]
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A Programmable Dual-RNA–Guided DNA Endonuclease in Adaptive Bacterial Immunity
Jinek, M., Chylinski, K., Fonfara, I., Hauer, M., Doudna, J. A., & Charpentier, E. (2012) · Science · doi:10.1126/science.1225829 · Cited by 17,116
Potent and specific genetic interference by double-stranded RNA in Caenorhabditis elegans
Fire, A., Xu, S., Montgomery, M. K., Kostas, S. A., Driver, S. E., & Mello, C. C. (1998) · Nature · doi:10.1038/35888 · Cited by 15,429
Multiplex Genome Engineering Using CRISPR/Cas Systems
Cong, L., Ran, F. A., Cox, D., Lin, S., Barretto, R., Habib, N., Hsu, P. D., Wu, X., Jiang, W., Marraffini, L. A., et al. (2013) · Science · doi:10.1126/science.1231143 · Cited by 15,339
RNA-Guided Human Genome Engineering via Cas9
Mali, P., Yang, L., Esvelt, K. M., Aach, J., Guell, M., DiCarlo, J. E., Norville, J. E., & Church, G. M. (2013) · Science · doi:10.1126/science.1232033 · Cited by 9,210
Self-citationIn Vivo Gene Delivery and Stable Transduction of Nondividing Cells by a Lentiviral Vector
Naldini, L., Blömer, U., Gallay, P., Ory, D., Mulligan, R., Gage, F. H., Verma, I. M., & Trono, D. (1996) · Science · doi:10.1126/science.272.5259.263 · Cited by 4,903
Prevalence of Age-Related Macular Degeneration in the United States
The Eye Diseases Prevalence Research Group* (2004) · Archives of Ophthalmology · doi:10.1001/archopht.122.4.564 · Cited by 2,774
In vivo genome editing using Staphylococcus aureus Cas9
Ran, F. A., Cong, L., Yan, W. X., Scott, D. A., Gootenberg, J. S., Kriz, A. J., Zetsche, B., Shalem, O., Wu, X., Makarova, K. S., et al. (2015) · Nature · doi:10.1038/nature14299 · Cited by 2,687
The RNA moiety of ribonuclease P is the catalytic subunit of the enzyme
Guerrier-Takada, C., Gardiner, K., Marsh, T., Pace, N., & Altman, S. (1983) · Cell · doi:10.1016/0092-8674(83)90117-4 · Cited by 2,684
High-fidelity CRISPR-Cas9 nucleases with no detectable genome-wide off-target effects
Kleinstiver, B. P., Pattanayak, V., Prew, M. S., Tsai, S. Q., Nguyen, N. T., Zheng, Z., & Joung, J. K. (2016) · Nature · doi:10.1038/nature16526 · Cited by 2,673
Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy
Wallace, D. C., Singh, G., Lott, M. T., Hodge, J. A., Schurr, T. G., Lezza, A. M. S., Elsas, L. J., & Nikoskelainen, E. K. (1988) · Science · doi:10.1126/science.3201231 · Cited by 2,440
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Research works printed but not linked: 3
- Coffin JM, Hughes SH, Varmus HE, eds. Retroviruses. Cold Spring Harbor, New York, USA: Cold Spring Harbor Laboratory Press; 1997. https://www.ncbi.nlm.nih.gov/books/NBK19376/ Accessed April 19, 2018
- Garanto, 2016, In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery, Hum Mol Genet, 25, 2552
- Leber, 1871, Ueber hereditäre und congenital-angelegte Sehnervenleiden. Albrecht Von Graefes Arch, Für Ophthalmol, 17, 249
Cited by
Sorted by citations
Items 101–125 of 125
Gentherapie in der Augenheilkunde
Priglinger, C., Gerhardt, M. J., Rudolph, G., Priglinger, S. G., & Michalakis, S. (2023) · Die Ophthalmologie · doi:10.1007/s00347-023-01883-9 · Cited by 3
Joe, M. K., Li, W., Hiriyanna, S., Yu, W., Shah, S., Abu-Asab, M. S., Qian, H., & Wu, Z. (2019) · Human Gene Therapy · doi:10.1089/hum.2019.162 · Cited by 2
Tong, B., Song, Y., Li, Z., Cai, M., Qi, H., Su, K., & Xu, H. A. (2025) · Neural Regeneration Research · doi:10.4103/nrr.nrr-d-24-01599 · Cited by 1
Modalities of vision restoration in optic neuropathies and retinal disease
Rubin, B. R., Lavinsky, F., Cain, R., Kuriyan, A. E., Wollstein, G., Zambrano, R., & Schuman, J. S. (2026) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2026.101474 · Cited by 1
Defective efferocytosis in diabetes: molecular mechanisms and emerging therapeutic strategies
Lei, Y., Tang, M., Deng, H., Li, Y., Wu, J., Luo, L., Mou, Y., 吴千石, Li, Q., Xu, Y., et al. (2026) · Inflammation Research · doi:10.1007/s00011-026-02302-w · Cited by 1
Tabbaa, T., Mehra, A. A., Kesav, N. P., Mahajan, V. B., Swanson, R. D., Zubricky, R. D., & Sobol, W. M. (2023) · Ophthalmic Genetics · doi:10.1080/13816810.2023.2255257 · Cited by 1
Self-citationZeppieri, M., & Musa, M. (2023) · Current Medicinal Chemistry · doi:10.2174/0109298673255220231010073215 · Cited by 1
Jinda, W., Tuekprakhon, A., Thongnoppakhun, W., Limwongse, C., Trinavarat, A., & Atchaneeyasakul, L. (2020) · International Ophthalmology · doi:10.1007/s10792-020-01559-2 · Cited by 1
Ho, M. M. K., Schmiedecke-Barbieri, S., Sánchez-Díaz, P. C., & Majcher, C. (2021) · Optometric Clinical Practice · doi:10.37685/uiwlibraries.2575-7717.2.2.1010 · Cited by 1
Dahariya, S., & Nagarjuna, V. (2021) · Springer eBooks · doi:10.1007/978-981-16-0002-9_14 · Cited by 1
Michalakis, S., Gerhardt, M.-J., Priglinger, C., & Priglinger, S. G. (2021) · Springer eBooks · doi:10.1007/978-3-319-90495-5_150-1 · Cited by 1
Michalakis, S., Gerhardt, M.-J., Priglinger, C., & Priglinger, S. G. (2022) · Springer eBooks · doi:10.1007/978-3-030-42634-7_150 · Cited by 1
Jalligampala, A., Young, J. M., Feist, J., Wang, W., Barone, F., Alston, D. C., Fransen, J. W., Jaikumar, G., Kamboj, K., Mooreman, C., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.09.25.678625 · Cited by 1
Genetic Abnormalities of the Retina and Choroid
Brar, V. S., Nasir, M., Sahni, D. R., Randolph, J., & Couser, N. L. (2018) · Elsevier eBooks · doi:10.1016/b978-0-323-65414-2.00011-8
Therapy and mechanism of Mendelian eye diseases
Tsai, Y.-T. (2018) · doi:10.7916/d8k37bhv
Gene Therapy and Surgery for Retinal Diseases
Jiang, D. J., Xu, C. L., & Tsang, S. H. (2018) · Wiley eBooks · doi:10.1002/9780470015902.a0027221
Self-citationRestoring partial vision to a blind patient
Benowitz, L. I., Dowling, J. E., Giger, R. J., Johnson, T. V., & Zack, D. J. (2022) · Faculty Reviews · doi:10.12703/r-01-0000012
Strategies for management of retinal degenerative disorders
Gopal, L. (2023) · Indian Journal of Ophthalmology · doi:10.4103/ijo.ijo_1683_23
Publication trends of Leber congenital amaurosis researches: a bibliometric study during 2002-2022
Huang, X.-X., Xie, M., Sun, Y.-Q., Zhao, X., Chen, Y., Chen, J., Han, S.-Y., Zhou, M., & Sun, X. (2024) · International Journal of Ophthalmology · doi:10.18240/ijo.2024.08.17
Mardero, O. D., Arruti, N., Coca-Robinot, J., Calvo, J. P., Montaño, V. E. F., Vallespín, E., & Martín, S. N. (2024) · European Journal of Ophthalmology · doi:10.1177/11206721241305244
Shimokawa, S., Fukushima, M., Shimokawa, S., Hisai, T., Tao, Y., Zhao, H., Funatsu, J., Notomi, S., Ishikawa, K., Arima, M., et al. (2025) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.66.13.15
Bai, Z., Xie, Y., Liu, L., Jingzhi, S., Liu, Y., & Kong, X. (2021) · Figshare · doi:10.6084/m9.figshare.14337538
Dağdelen, B., Arıkoğlu, H., Kaya, D. E., & Bozkurt, B. (2026) · International Journal of Molecular Sciences · doi:10.3390/ijms27052418
Wang, B., Ganzen, L. C., Coskun, E., James, R., Kha, T., Zhu, X., New, J. A., Tsujikawa, M., & Leung, Y. F. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.04.18.719270
Metadata
- Authors
- DiCarlo, J. E., Mahajan, V. B., & Tsang, S. H.
- Affiliations
- NewYork–Presbyterian Hospital (US)
- VA Palo Alto Health Care System (US)
- Corresponding author
- Tsang, Stephen H.
- Venue
- Journal of Clinical Investigation
- Published
- 2018-06-01
- Volume
- 128
- Issue
- 6
- Pages
- 2177-2188
- ISSN
- 0021-9738 (ISSN-L)
- 1558-8238
- PMC
- PMC5983345
- OpenAlex
- W2807488219
- Cited by
- 127
- References
- 181
- Citations by year
- 2026: 4 · 2025: 7 · 2024: 9 · 2023: 17 · 2022: 15 · 2021: 27 · 2020: 24 · 2019: 14 · 2018: 9
- FWCI
- 1.81
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Clinical Investigation (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (5P30EY019007,R01EY018213,R01EY024698,R01EY026682,R21AG050437)
- National Cancer Institute (5P30CA013696)
- Schneeweiss Stem Cell Fund, New York State (C029572)
- Foundation Fighting Blindness New York Regional Research Center Grant (C-NY05-0705-0312)
- Topics
- Health Sciences › Medicine › Ophthalmology › Retinal Development and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Keywords
- gene therapy, genome editing, retinal disease, CRISPR-Cas, gene delivery vectors, Leber congenital amaurosis, choroideremia, achromatopsia, retinitis pigmentosa, Usher syndrome, neovascular age-related macular degeneration, X-linked retinoschisis, Stargardt disease, Leber's hereditary optic neuropathy, RPE65, CEP290, MERTK, RPGR, precision medicine
- MeSH terms
- Gene Editing, Animals, Humans, Retinal Diseases, Genetic Therapy, CRISPR-Cas Systems
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