Gene therapy and genome surgery in the retina

A Programmable Dual-RNA–Guided DNA Endonuclease in Adaptive Bacterial Immunity

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Multiplex Genome Engineering Using CRISPR/Cas Systems

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RNA-Guided Human Genome Engineering via Cas9

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In Vivo Gene Delivery and Stable Transduction of Nondividing Cells by a Lentiviral Vector

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Prevalence of Age-Related Macular Degeneration in the United States

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In vivo genome editing using Staphylococcus aureus Cas9

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The RNA moiety of ribonuclease P is the catalytic subunit of the enzyme

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High-fidelity CRISPR-Cas9 nucleases with no detectable genome-wide off-target effects

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Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy

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Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis

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Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65 -mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial

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Effect of gene therapy on visual function in Leber’s congenital amaurosis

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Immunity to homologous grafted skin; the fate of skin homografts transplanted to the brain, to subcutaneous tissue, and to the anterior chamber of the eye.

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Defective myosin VIIA gene responsible for Usher syndrome type IB

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Cre-dependent selection yields AAV variants for widespread gene transfer to the adult brain

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Applications of CRISPR technologies in research and beyond

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Treatment of Leber Congenital Amaurosis Due to <i>RPE65</i> Mutations by Ocular Subretinal Injection of Adeno-Associated Virus Gene Vector: Short-Term Results of a Phase I Trial

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Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle

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RNA-Based Therapeutics: Current Progress and Future Prospects

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Mutation of the Stargardt Disease Gene ( ABCR ) in Age-Related Macular Degeneration

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Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial

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Long-Term Effect of Gene Therapy on Leber’s Congenital Amaurosis

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Introduction of double-strand breaks into the genome of mouse cells by expression of a rare-cutting endonuclease.

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Self-complementary recombinant adeno-associated virus (scAAV) vectors promote efficient transduction independently of DNA synthesis

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In vivo genome editing with a small Cas9 orthologue derived from Campylobacter jejuni

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A type VII myosin encoded by the mouse deafness gene shaker-1

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Mutations in RPE65 cause autosomal recessive childhood–onset severe retinal dystrophy

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A look at autoimmunity and inflammation in the eye

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A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X–linked retinitis pigmentosa (RP3)

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Extrachromosomal recombinant adeno-associated virus vector genomes are primarily responsible for stable liver transduction in vivo

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Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial

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Long-term safety and tolerability of ProSavin, a lentiviral vector-based gene therapy for Parkinson's disease: a dose escalation, open-label, phase 1/2 trial

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Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis

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Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement

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Dystrophins carrying spectrin-like repeats 16 and 17 anchor nNOS to the sarcolemma and enhance exercise performance in a mouse model of muscular dystrophy

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Immune responses to viral antigens versus transgene product in the elimination of recombinant adenovirus-infected hepatocytes in vivo.

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Introduction of Double-Strand Breaks into the Genome of Mouse Cells by Expression of a Rare-Cutting Endonuclease

Rouet, P., Smih, F., & Jasin, M. (1994) · Molecular and Cellular Biology · doi:10.1128/mcb.14.12.8096-8106.1994 · Cited by 363 · see citing works

Disabling Cas9 by an anti-CRISPR DNA mimic

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Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase

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Loss of synchronized retinal phagocytosis and age-related blindness in mice lacking αvβ5 integrin

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Photoreceptor cell rescue in retinal degeneration (rd) mice by in vivo gene therapy

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Restoration of visual function in retinal degeneration mice by ectopic expression of melanopsin

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Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups

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CEP290, a gene with many faces: mutation overview and presentation of CEP290base

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In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa

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Serotype-dependent packaging of large genes in adeno-associated viral vectors results in effective gene delivery in mice

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Homologous recombination in plant cells is enhanced by in vivo induction of double strand breaks into DNA by a site-specific endonuclease

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Applications of CRISPR–Cas systems in neuroscience

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Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.

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CRISPR/Cas9-Mediated Genome Editing as a Therapeutic Approach for Leber Congenital Amaurosis 10

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Effective delivery of large genes to the retina by dual AAV vectors

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Gene therapy rescues cone function in congenital achromatopsia

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Adult Human RPE Can Be Activated into a Multipotent Stem Cell that Produces Mesenchymal Derivatives

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A retinitis pigmentosa GTPase regulator (RPGR)- deficient mouse model for X-linked retinitis pigmentosa (RP3)

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CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

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Abnormal phagocytosis by retinal pigmented epithelium that lacks myosin VIIa, the Usher syndrome 1B protein.

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X linked retinoschisis.

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Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial

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Essential role for MFG-E8 as ligand for αvβ5 integrin in diurnal retinal phagocytosis

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Optogenetic therapy for retinitis pigmentosa

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Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

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Gene Therapy for Leber Hereditary Optic Neuropathy

Feuer, W. J., Schiffman, J. C., Davis, J. L., Porciatti, V., Gonzalez, P., Koilkonda, R. D., Yuan, H., Lalwani, A., Lam, B. L., & Guy, J. (2016) · Ophthalmology · doi:10.1016/j.ophtha.2015.10.025 · Cited by 230 · see citing works

Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration

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Optimized Allotopic Expression of the Human Mitochondrial ND4 Prevents Blindness in a Rat Model of Mitochondrial Dysfunction

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Restoration of cone vision in a mouse model of achromatopsia

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Correction of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapy

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Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

Kohl, S., Zobor, D., Chiang, W.-C. J., Weisschuh, N., Staller, J., González-Menéndez, I., Chang, S., Beck, S. C., Garrido, M. G., Sothilingam, V., et al. (2015) · Nature Genetics · doi:10.1038/ng.3319 · Cited by 216 · see citing works

X-linked retinoschisis: A clinical and molecular genetic review

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Photoreceptor Signaling: Supporting Vision across a Wide Range of Light Intensities

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Gene Therapy Restores Vision-Dependent Behavior as Well as Retinal Structure and Function in a Mouse Model of RPE65 Leber Congenital Amaurosis

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Leber hereditary optic neuropathy: current perspectives.

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Visual Acuity after Retinal Gene Therapy for Choroideremia

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Genetics and pathological mechanisms of Usher syndrome

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RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked Retinoschisis

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Restoration of Cone Vision in the CNGA3−/− Mouse Model of Congenital Complete Lack of Cone Photoreceptor Function

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Lentiviral Vector Gene Transfer of Endostatin/Angiostatin for Macular Degeneration (GEM) Study

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The prevalence of Usher syndrome and other retinal dystrophy‐hearing impairment associations

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Efficacy and Safety of rAAV2-ND4 Treatment for Leber’s Hereditary Optic Neuropathy

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Retinal Dystrophy of Swedish Briard/Briard–Beagle Dogs Is Due to a 4-bp Deletion inRPE65

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Peptidomimetics Therapeutics for Retinal Disease

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Improved gene therapy for MFRP deficiency-mediated retinal degeneration by knocking down endogenous bicistronic Mfrp and Ctrp5 transcript

Tian, X., Zheng, Q., Xie, J., Zhou, Q., Liang, L., Xu, G., Chen, H., Ling, C., & Lu, D. (2023) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2023.05.001 · Cited by 12 · see citing works

Challenges in AAV-Based Retinal Gene Therapies and the Role of Magnetic Nanoparticle Platforms

Siontas, O., & Ahn, S. (2024) · Journal of Clinical Medicine · doi:10.3390/jcm13237385 · Cited by 12 · see citing works

Molecular Surgery: Proteomics of a Rare Genetic Disease Gives Insight into Common Causes of Blindness

Velez, G., & Mahajan, V. B. (2020) · iScience · doi:10.1016/j.isci.2020.101667 · Cited by 12 · see citing works

Differences in Intraretinal Pigment Migration Across Inherited Retinal Dystrophies

Oh, J. K., Levi, S. R., Kim, J., de Carvalho, J. R. L., Ryu, J., Sparrow, J. R., & Tsang, S. H. (2020) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2020.05.010 · Cited by 10 · see citing works

Gene Editing for Treatment and Prevention of Human Diseases: A Global Survey of Gene Editing-Related Researchers

Rocha, L. F. M., Braga, L. A. M., & Mota, F. B. (2020) · Human Gene Therapy · doi:10.1089/hum.2020.136 · Cited by 10 · see citing works

CRISPR Cas9 based genome editing in inherited retinal dystrophies

Bansal, M., Acharya, S., Sharma, S., Phutela, R., Rauthan, R., Maiti, S., & Chakraborty, D. (2021) · Ophthalmic Genetics · doi:10.1080/13816810.2021.1904421 · Cited by 10 · see citing works

Retinal and Choroidal Neovascularization Antivascular Endothelial Growth Factor Treatments: The Role of Gene Therapy

Toutounchian, S., Ahmadbeigi, N., & Mansouri, V. (2022) · Journal of Ocular Pharmacology and Therapeutics · doi:10.1089/jop.2022.0022 · Cited by 9 · see citing works

The retina revolution: signaling pathway therapies, genetic therapies, mitochondrial therapies, artificial intelligence

Wood, E. H., Korot, E., Storey, P. P., Muscat, S. P., Williams, G. A., & Drenser, K. A. (2020) · Current Opinion in Ophthalmology · doi:10.1097/icu.0000000000000656 · Cited by 9 · see citing works

CRISPR/Cas9 System and its Research Progress in Gene Therapy

Liu, W., Yang, C., Liu, Y., & Jiang, G. (2019) · Anti-Cancer Agents in Medicinal Chemistry · doi:10.2174/1871520619666191014103711 · Cited by 8 · see citing works

Prime editing enables precise genome editing in mouse liver and retinaPreprint

Jang, H., Shin, J. H., Jo, D. H., Seo, J. H., Yu, G., Gopalappa, R., Cho, S., Kim, J. H., & Kim, S. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.01.08.425835 · Cited by 8 · see citing works

Efficient Rescue of Retinal Degeneration in Pde6a Mice by Engineered Base Editing and Prime Editing

Liu, Z., Chen, S., Davis, A. E., Lo, C., Wang, Q. K., Li, T., Ning, K., Zhāng, Q., Zhao, J., Wang, S., et al. (2024) · Advanced Science · doi:10.1002/advs.202405628 · Cited by 7 · see citing works

Telegenetics for inherited retinal diseases in the COVID-19 environment

Al‐Moujahed, A., Kumar, A., Chemudupati, T., Tsang, S. H., & Mahajan, V. B. (2021) · International Journal of Retina and Vitreous · doi:10.1186/s40942-021-00301-z · Cited by 7 · see citing works

Rod photoreceptor clearance due to misfolded rhodopsin is linked to a DAMP-immune checkpoint switch

Lee, S. J., Wang, W., Jin, L., Lu, X., Gao, L., Chen, Y., Liu, T., Emery, D., Vukmanic, E. V., Liu, Y., et al. (2020) · Journal of Biological Chemistry · doi:10.1074/jbc.ra120.016053 · Cited by 6 · see citing works

dCasMINI-mediated therapy rescues photoreceptors degeneration in a mouse model of retinitis pigmentosa

Wang, Q. K., Xu, X., Chen, S., Lu, R., Li, L., Lo, C., Liu, Z., Ning, K., Li, T., Kowal, T. J., et al. (2024) · Science Advances · doi:10.1126/sciadv.adn7540 · Cited by 6 · see citing works

Detection and validation of novel mutations inMERTKin a simplex case of retinal degeneration using WGS and hiPSC–RPEs model

Biswas, P., Borooah, S., Matsui, H., Voronchikhina, M., Zhou, J., Zawaydeh, Q., Raghavendra, P. B., Ferreyra, H. A., Riazuddin, S., Wahlin, K. J., et al. (2020) · Human Mutation · doi:10.1002/humu.24146 · Cited by 6 · see citing works

Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology

Bai, Z., Bai, Z., Xie, Y., Liu, L., Jingzhi, S., Liu, Y., & Kong, X. (2021) · BMC Medical Genomics · doi:10.1186/s12920-021-00935-w · Cited by 6 · see citing works

Prime Editing in Mammals: The Next Generation of Precision Genome Editing

Wang, D., Fan, X., Li, M., Liu, T., Lü, P., Wang, G., Li, Y., Han, J., & Zhao, J. (2022) · The CRISPR Journal · doi:10.1089/crispr.2022.0084 · Cited by 6 · see citing works

Gene and epigenetic editing in the treatment of primary ciliopathies

Molinari, E., & Sayer, J. A. (2021) · Progress in molecular biology and translational science · doi:10.1016/bs.pmbts.2021.01.027 · Cited by 6 · see citing works

Uveitis: contrasting the approaches in Japan and the United States

Rosenbaum, J. T. (2018) · Japanese Journal of Ophthalmology · doi:10.1007/s10384-018-0633-2 · Cited by 5 · see citing works

Precision Therapy for Inherited Retinal Disease

Koulisis, N., & Nagiel, A. (2020) · Clinics in Laboratory Medicine · doi:10.1016/j.cll.2020.02.007 · Cited by 5 · see citing works

Usher syndrome: Genetic diagnosis and current therapeutic approaches

Cuzzuol, B. R., Apolonio, J. S., Júnior, R. T. D. S., de Carvalho, L. S., Santos, L. K. D. S., Malheiro, L. H., Luz, M. S., Calmon, M. S., Crivellaro, H. D. L., Lemos, F. F. B., et al. (2024) · World Journal of Otorhinolaryngology · doi:10.5319/wjo.v11.i1.1 · Cited by 4 · see citing works

CRISPR-Cas9 Disruption of Aquaporin 1: An Alternative to Glaucoma Eye Drop Therapy?

Komáromy, A. M. (2020) · Molecular Therapy · doi:10.1016/j.ymthe.2020.02.011 · Cited by 4 · see citing works

All-in-one AAV-mediated Nrl gene inactivation rescues retinal degeneration in Pde6a mice

Liu, Z., Chen, S., Lo, C., Wang, Q. K., & Sun, Y. (2024) · JCI Insight · doi:10.1172/jci.insight.178159 · Cited by 3 · see citing works

Robotic augmentation of surgical skills in subretinal injection: a novel semiautomated system

Lian, Z., Xu, A., Li, Y., Liu, J., Song, R., Liang, H., Wang, R., Yang, Y., Wei, X., Zhang, Z., et al. (2025) · International Journal of Surgery · doi:10.1097/js9.0000000000004501 · Cited by 3 · see citing works

A Report on Children with CEP290 Mutation, Vision Loss, and Developmental Delay

Şahlı, E. (2023) · Beyoglu Eye Journal · doi:10.14744/bej.2023.37233 · Cited by 3 · see citing works

Genome editing of patient-derived iPSCs identifies a deep intronic variant causing aberrant splicing in hemophilia A

Hiramoto, T., Inaba, H., Baatartsogt, N., Kashiwakura, Y., Hayakawa, M., Kamoshita, N., Nishimasu, H., Nureki, O., Kinai, E., & Ohmori, T. (2023) · Blood Advances · doi:10.1182/bloodadvances.2023010838 · Cited by 3 · see citing works

A novel AAV Vector for gene therapy of RPE-related retinal degenerative diseases via intravitreal delivery

Gong, Y., Huang, X., Tu, T., Chu, C., Xian, C., Yuan, Y., Fu, X., Li, R., Zhong, G., & Zhou, X. (2024) · Molecular Neurodegeneration · doi:10.1186/s13024-024-00777-x · Cited by 2 · see citing works

Gene Therapy for Neovascular Macular Degeneration, Diabetic Retinopathy, and Diabetic Macular Edema

Mellen, P. L., & Heier, J. S. (2021) · International Ophthalmology Clinics · doi:10.1097/iio.0000000000000382 · Cited by 2 · see citing works

Evaluation of CRISPR/Cas9 exon‐skipping vector for choroideremia using human induced pluripotent stem cell‐derived RPE

Iwagawa, T., Masumoto, H., Tabuchi, H., Tani, K., Conklin, B. R., & Watanabe, S. (2022) · The Journal of Gene Medicine · doi:10.1002/jgm.3464 · Cited by 2 · see citing works

Revolution in Gene Medicine Therapy and Genome Surgery

Jiang, D. J., Xu, C. L., & Tsang, S. H. (2018) · Genes · doi:10.3390/genes9120575 · Cited by 33 · see citing works

Precise Gene Editing Technologies in Retinal Applications.

Ahmadian, M., Okan, I. C. T., Uyanik, G., Tschopp, M., & Ağca, C. (2025) · Sabanci University · doi:10.48620/85621

Genome Editing in the Retina: A Case Study in CRISPR for a Patient-Specific Autosomal Dominant Retinitis Pigmentosa Model

Justus, S., Zheng, A., Tsai, Y.-T., Wu, W.-H., Hsu, C., Wu, W., Bassuk, A. G., Mahajan, V. B., & Tsang, S. H. (2016) · Springer eBooks · doi:10.1007/978-3-319-34148-4_9 · Cited by 1 · see citing works

Genome Surgery and Gene Therapy in Retinal Disorders.

Chan, L., Mahajan, V. B., & Tsang, S. H. (2017) · PubMed Central · Cited by 14 · see citing works

CRISPR-Based Genome Editing as a New Therapeutic Tool in Retinal Diseases

Rasoulinejad, S. A., & Maroufi, F. (2021) · Molecular Biotechnology · doi:10.1007/s12033-021-00345-4 · Cited by 24 · see citing works