Optimized Subretinal Injection Technique for Gene Therapy Approaches

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

Maguire, A. M., Simonelli, F., Pierce, E. A., Pugh, E. N., Mingozzi, F., Bennicelli, J., Banfi, S., Marshall, K. A., Testa, F., Surace, E. M., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0802315 · Cited by 2,145 · see citing works

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

Russell, S., Bennett, J., Wellman, J. A., Chung, D. C., Yu, Z.-F., Tillman, A., Wittes, J., Pappas, J., Elci, O., McCague, S., et al. (2017) · The Lancet · doi:10.1016/s0140-6736(17)31868-8 · Cited by 1,952 · see citing works

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

Hauswirth, W. W., Aleman, T. S., Kaushal, S., Cideciyan, A. V., Schwartz, S. B., Wang, L., Conlon, T. J., Boye, S. L., Flotte, T. R., Byrne, B. J., et al. (2008) · Human Gene Therapy · doi:10.1089/hum.2008.107 · Cited by 954 · see citing works

Lineage analysis in the vertebrate nervous system by retrovirus-mediated gene transfer.

Price, J., Turner, D., & Cepko, C. L. (1987) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.84.1.156 · Cited by 878 · see citing works

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

MacLaren, R. E., Groppe, M., Barnard, A. R., Cottriall, C. L., Tolmachova, T., Seymour, L., Clark, K. R., During, M. J., Cremers, F. P. M., Black, G. C. M., et al. (2014) · The Lancet · doi:10.1016/s0140-6736(13)62117-0 · Cited by 796 · see citing works

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

Cideciyan, A. V., Alemán, T. S., Boye, S. L., Schwartz, S., Kaushal, S., Román, A. J., Pang, J., Sumaroka, A., Windsor, E. A. M., Wilson, J. M., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0807027105 · Cited by 674 · see citing works

Genetic Reactivation of Cone Photoreceptors Restores Visual Responses in Retinitis Pigmentosa

Busskamp, V., Duebel, J., Bálya, D., Fradot, M., Viney, T. J., Siegert, S., Groner, A. C., Cabuy, E., Forster, V., Seeliger, M. W., et al. (2010) · Science · doi:10.1126/science.1190897 · Cited by 639 · see citing works

The molecular basis of human retinal and vitreoretinal diseases

Berger, W., Kloeckener‐Gruissem, B., & Neidhardt, J. (2010) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2010.03.004 · Cited by 589 · see citing works

Next generation of adeno-associated virus 2 vectors: Point mutations in tyrosines lead to high-efficiency transduction at lower doses

Zhong, L., Li, B., Mah, C. S., Govindasamy, L., Agbandje-McKenna, M., Cooper, M., Herzog, R. W., Zolotukhin, I., Warrington, K. H., Weigel-Van Aken, K. A., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0802866105 · Cited by 558 · see citing works

High-efficiency transduction of the mouse retina by tyrosine-mutant AAV serotype vectors

Petrs-Silva, H., Dinculescu, A., Li, Q., Min, S.-H., Chiodo, V., Pang, J.-J., Zhong, L., Zolotukhin, S., Srivastava, A., Lewin, A. S., et al. (2009) · Molecular Therapy · doi:10.1038/mt.2008.269 · Cited by 398 · see citing works

Three-Year Follow-up after Unilateral Subretinal Delivery of Adeno-Associated Virus in Patients with Leber Congenital Amaurosis Type 2

Testa, F., Maguire, A. M., Rossi, S., Pierce, E. A., Melillo, P., Marshall, K. A., Banfi, S., Surace, E. M., Sun, J., Acerra, C., et al. (2013) · Ophthalmology · doi:10.1016/j.ophtha.2012.11.048 · Cited by 331 · see citing works

Human <i>RPE65</i> Gene Therapy for Leber Congenital Amaurosis: Persistence of Early Visual Improvements and Safety at 1 Year

Cideciyan, A. V., Hauswirth, W. W., Aleman, T. S., Kaushal, S., Schwartz, S. B., Boye, S. L., Windsor, E. A. M., Conlon, T. J., Sumaroka, A., Pang, J.-J., et al. (2009) · Human Gene Therapy · doi:10.1089/hum.2009.086 · Cited by 312 · see citing works

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

Allocca, M., Doria, M., Petrillo, M., Colella, P., Garcia-Hoyos, M., Gibbs, D., Kim, S. R., Maguire, A., Rex, T. S., Di Vicino, U., et al. (2008) · Journal of Clinical Investigation · doi:10.1172/jci34316 · Cited by 292 · see citing works

Basic Biology of Adeno-Associated Virus (AAV) Vectors Used in Gene Therapy

Balakrishnan, B., & Jayandharan, G. (2014) · Current Gene Therapy · doi:10.2174/1566523214666140302193709 · Cited by 225 · see citing works

Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies

den Hollander, A. I., Black, A., Bennett, J., & Cremers, F. P. M. (2010) · Journal of Clinical Investigation · doi:10.1172/jci42258 · Cited by 209 · see citing works

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

Michalakis, S., Mühlfriedel, R. L., Tanimoto, N., Krishnamoorthy, V., Koch, S., Fischer, M. D., Bećirović, E., Bai, L., Huber, G., Beck, S. C., et al. (2010) · Molecular Therapy · doi:10.1038/mt.2010.149 · Cited by 186 · see citing works

Versatility of AAV vectors for retinal gene transfer

Surace, E. M., & Auricchio, A. (2007) · Vision Research · doi:10.1016/j.visres.2007.07.027 · Cited by 145 · see citing works

AAV-mediated gene therapy for retinal disorders: from mouse to man

Buch, P. K., Bainbridge, J. W., & Ali, R. R. (2008) · Gene Therapy · doi:10.1038/gt.2008.66 · Cited by 122 · see citing works

Subretinal injections in rodent eyes: effects on electrophysiology and histology of rat retina.

Timmers, A. M., Zhang, H., Squitieri, A., & Gonzalez-Pola, C. (2001) · PubMed · Cited by 110 · see citing works

Comparative analysis of in vivo and in vitro AAV vector transduction in the neonatal mouse retina: Effects of serotype and site of administration

Pang, J.-J., Lauramore, A., Deng, W.-T., Li, Q., Doyle, T. J., Chiodo, V., Li, J., & Hauswirth, W. W. (2008) · Vision Research · doi:10.1016/j.visres.2007.08.009 · Cited by 97 · see citing works

Gene therapy restores vision and delays degeneration in the CNGB1-/- mouse model of retinitis pigmentosa

Koch, S., Sothilingam, V., Garrido, M. G., Tanimoto, N., Bećirović, E., Koch, F., Seide, C., Beck, S. C., Seeliger, M. W., Biel, M., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds290 · Cited by 96 · see citing works

Effect of Late-stage Therapy on Disease Progression in AAV-mediated Rescue of Photoreceptor Cells in the Retinoschisin-deficient Mouse

Janßen, A., Min, S.-H., Molday, L. L., Tanimoto, N., Seeliger, M. W., Hauswirth, W. W., Molday, R. S., & Weber, B. H. F. (2008) · Molecular Therapy · doi:10.1038/mt.2008.57 · Cited by 95 · see citing works

Long‐term evaluation of retinal function in Prph2Rd2/Rd2 mice following AAV‐mediated gene replacement therapy

Schlichtenbrede, F. C., da Cruz, L., Stephens, C., Smith, A. J., Georgiadis, A., Thrasher, A. J., Bainbridge, J. W., Seeliger, M. W., & Ali, R. R. (2003) · The Journal of Gene Medicine · doi:10.1002/jgm.401 · Cited by 79 · see citing works

Advances in AAV Vector Development for Gene Therapy in the Retina

Day, T. P., Byrne, L. C., Schaffer, D. V., & Flannery, J. G. (2014) · Advances in experimental medicine and biology · doi:10.1007/978-1-4614-3209-8_86 · Cited by 71 · see citing works

Intraocular Delivery of Recombinant Virus

Liang, F.-Q., Anand, V., Maguire, A. M., & Bennett, J. (2003) · Humana Press eBooks · doi:10.1385/1-59259-085-3:125 · Cited by 71 · see citing works

Technical brief: subretinal injection and electroporation into adult mouse eyes.

Johnson, C. J., Berglin, L., Chrenek, M. A., Redmond, T. M., Boatright, J. H., & Nickerson, J. M. (2008) · PubMed Central · Cited by 68 · see citing works

Retinal gene delivery by adeno-associated virus (AAV) vectors: Strategies and applications

Schön, C., Biel, M., & Michalakis, S. (2015) · European Journal of Pharmaceutics and Biopharmaceutics · doi:10.1016/j.ejpb.2015.01.009 · Cited by 68 · see citing works

Transgenic expression of the jellyfish green fluorescent protein in the cone photoreceptors of the mouse

Fei, Y., & Hughes, T. E. (2001) · Visual Neuroscience · doi:10.1017/s0952523801184117 · Cited by 60 · see citing works

Stable RAAV-Mediated Transduction of Rod and Cone Photoreceptors in the Canine Retina

Bainbridge, J. W. B., Mistry, A., Schlichtenbrede, F. C., Smith, A., Broderick, C., De Alwis, M., Georgiadis, A., Taylor, P. M., Squires, M., Sethi, C., et al. (2003) · Gene Therapy · doi:10.1038/sj.gt.3301990 · Cited by 58 · see citing works

Adeno-Associated Virus-Mediated Rhodopsin Replacement Provides Therapeutic Benefit in Mice with a Targeted Disruption of the Rhodopsin Gene

Palfi, A., Millington‐Ward, S., Chadderton, N., O’Reilly, M., Goldmann, T., Humphries, M. M., Li, T., Uwe Wolfrum, B., Humphries, P., Kenna, P. F., et al. (2009) · Human Gene Therapy · doi:10.1089/hum.2009.119 · Cited by 56 · see citing works

Gene therapy for achromatopsia

Michalakis, S., Schön, C., Becirovic, E., & Biel, M. (2017) · The Journal of Gene Medicine · doi:10.1002/jgm.2944 · Cited by 41 · see citing works

AAV-Mediated Gene Supplementation Therapy in Achromatopsia Type 2: Preclinical Data on Therapeutic Time Window and Long-Term Effects

Mühlfriedel, R. L., Tanimoto, N., Schön, C., Sothilingam, V., Garrido, M. G., Beck, S. C., Huber, G., Biel, M., Seeliger, M. W., & Michalakis, S. (2017) · Frontiers in Neuroscience · doi:10.3389/fnins.2017.00292 · Cited by 33 · see citing works

Gene replacement therapy for retinal CNG channelopathies

Schön, C., Biel, M., & Michalakis, S. (2013) · Molecular Genetics and Genomics · doi:10.1007/s00438-013-0766-4 · Cited by 30 · see citing works

Regulation of retinal function but nonrescue of vision in RPE65-deficient dogs treated with doxycycline-regulatable AAV vectors

Lhériteau, E., Libeau, L., Mendes-Madeira, A., Deschamps, J.-Y., Weber, M., Le Meur, G., Provost, N., Guihal, C., Moullier, P., & Rolling, F. (2010) · Molecular Therapy · doi:10.1038/mt.2010.46 · Cited by 18 · see citing works

Subretinal injection techniques for retinal disease: A review

Irigoyen, C., Amenabar Alonso, A., Sanchez-Molina, J., Rodríguez-Hidalgo, M., Lara-López, A., & Ruiz-Ederra, J. (2022) · Journal of Clinical Medicine · doi:10.3390/jcm11164717 · Cited by 106 · see citing works

Subretinal therapy: technological solutions to surgical and immunological challenges

Ladha, R., Caspers, L. E., Willermain, F., & de Smet, M. D. (2022) · Frontiers in Medicine · doi:10.3389/fmed.2022.846782 · Cited by 54 · see citing works

The Role of Subretinal Injection in Ophthalmic Surgery: Therapeutic Agent Delivery and Other Indications

Tripepi, D., Jalil, A., Ally, N., Buzzi, M., Moussa, G., Rothschild, P.-R., Rossi, T., Ferrara, M., & Romano, M. R. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms241310535 · Cited by 31 · see citing works

Robotising vitreoretinal surgeries

Mi, H. F., MacLaren, R. E., & Cehajic‐Kapetanovic, J. (2024) · Eye · doi:10.1038/s41433-024-03149-3 · Cited by 30 · see citing works

In vivo genome editing via CRISPR/Cas9-mediated homology-independent targeted integration for Bietti crystalline corneoretinal dystrophy treatment

Meng, X., Jia, R., Zhao, X., Zhang, F., Chen, S., Yu, S., Liu, X., Dou, H., Feng, X., Zhang, J., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-48092-9 · Cited by 26 · see citing works

Retina-directed gene therapy: Achievements and remaining challenges

Biber, J., Gandor, C. L. A., Bećirović, E., & Michalakis, S. (2025) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2025.108862 · Cited by 24 · see citing works

iOCT-guided simulated subretinal injections: a comparison between manual and robot-assisted techniques in an ex-vivo porcine model

Maierhofer, N. A., Jablonka, A.-M., Roodaki, H., Nasseri, M. A., Eslami, A., Klaas, J. E., Lohmann, C. P., Maier, M. M., & Zapp, D. (2023) · Journal of Robotic Surgery · doi:10.1007/s11701-023-01699-4 · Cited by 22 · see citing works

Identification of stemness in primary retinoblastoma cells by analysis of stem-cell phenotypes and tumorigenicity with culture and xenograft models

Tang, Z., Ma, H., Mao, Y., Ai, S., Zhang, P., Nie, C., Gao, Y., & Lu, R. (2019) · Experimental Cell Research · doi:10.1016/j.yexcr.2019.03.034 · Cited by 19 · see citing works

In Vivo Potency Testing of Subretinal rAAV5.hCNGB1 Gene Therapy in the Cngb1 Knockout Mouse Model of Retinitis Pigmentosa

Wagner, J. E., Zobel, L., Gerhardt, M. J., O’Riordan, C. R., Frederick, A., Petersen‐Jones, S. M., Biel, M., & Michalakis, S. (2021) · Human Gene Therapy · doi:10.1089/hum.2021.121 · Cited by 14 · see citing works

Development of a translatable gene augmentation therapy for CNGB1-retinitis pigmentosa

Occelli, L. M., Zobel, L., Stoddard, J., Wagner, J., Pasmanter, N., Querubin, J. R., Renner, L. M., Reynaga, R., Winkler, P. A., Sun, K., et al. (2023) · Molecular Therapy · doi:10.1016/j.ymthe.2023.04.005 · Cited by 14 · see citing works

Ocular Gene Therapies

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 · see citing works

Ocular Gene Therapies

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 · see citing works

A theoretical and experimental model of flow characteristics in subretinal injections

Ladha, R., Merveille, B., Wyns, R., Scheid, B., Willermain, F., & de Smet, M. D. (2026) · PLoS ONE · doi:10.1371/journal.pone.0344836

A new gene therapy approach to restore light sensitivity in Rod-Cone Dystrophies

Simon, C.-J. (2019) · doi:10.70675/e4d96b44z1c00z4736z9d5ez319e20faa359

Optimized Technique for Subretinal Injections in Mice

Mühlfriedel, R. L., Michalakis, S., Garrido, M. G., Biel, M., & Seeliger, M. W. (2012) · Methods in molecular biology · doi:10.1007/978-1-62703-080-9_24 · Cited by 45 · see citing works

Limbal Approach-Subretinal Injection of Viral Vectors for Gene Therapy in Mice Retinal Pigment Epithelium

Park, S. W., Kim, J. H., Park, W. J., & Kim, J. H. (2015) · Journal of Visualized Experiments · doi:10.3791/53030-v · Cited by 11 · see citing works

Optimized Minimally Invasive Transscleral Subretinal Injection Technique in Mouse

Cao, L. Y., Chew, L. A., Finkelstein, S., Amason, J., Dubey, S. K., Flynn, E., Arshavsky, V. Y., Rickman, C. B., & Alekseev, O. (2025) · Journal of Visualized Experiments · doi:10.3791/68631

Feasibility of direct vitrectomy-sparing subretinal injection for gene delivery in large animals

Stranak, Z., Ardan, T., Nemesh, Y., Toms, M., Toualbi, L., Harbottle, R., Ellederova, Z., Lytvynchuk, L., Petrovski, G., Motlik, J., et al. (2024) · Current Eye Research · doi:10.1080/02713683.2024.2343335 · Cited by 7 · see citing works

Advanced Ocular Injection Techniques for Therapy Approaches

Mühlfriedel, R. L., Garrido, M. G., Wallrapp, C., & Seeliger, M. W. (2017) · Methods in molecular biology · doi:10.1007/978-1-4939-7522-8_15 · Cited by 3 · see citing works