Gene therapy and genome surgery in the retina

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

In 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

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

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

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

Bainbridge, J. W. B., Smith, A. J., Barker, S. S., Robbie, S., Henderson, R., Balaggan, K., Viswanathan, A., Holder, G. E., Stockman, A., Tyler, N., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0802268 · Cited by 1,924

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.

Medawar, P. B. (1948) · PubMed · Cited by 1,084

Defective myosin VIIA gene responsible for Usher syndrome type IB

Well, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M. D., et al. (1995) · Nature · doi:10.1038/374060a0 · Cited by 1,068

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

Deverman, B. E., Pravdo, P. L., Simpson, B. P., Kumar, S. R., Chan, K. Y., Banerjee, A., Wu, W.-L., Yang, B., Huber, N., Pasca, S. P., et al. (2016) · Nature Biotechnology · doi:10.1038/nbt.3440 · Cited by 1,061

Applications of CRISPR technologies in research and beyond

Barrangou, R., & Doudna, J. A. (2016) · Nature Biotechnology · doi:10.1038/nbt.3659 · Cited by 1,005

Treatment of Leber Congenital Amaurosis Due to RPE65 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

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

Redmond., T. M., Yu, S., Lee, E., Bok, D., Hamasaki, D., Chen, N., Goletz, P., Ma, J.-X., Crouch, R. K., & Pfeifer, K. (1998) · Nature Genetics · doi:10.1038/3813 · Cited by 929

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

Allikmets, R. L., Shroyer, N. F., Singh, N., Seddon, J. M., Lewis, R. A., Bernstein, P. S., Peiffer, A. P., Zabriskie, N. A., Li, Y., Hutchinson, A. A., et al. (1997) · Science · doi:10.1126/science.277.5333.1805 · Cited by 879

RNA-Based Therapeutics: Current Progress and Future Prospects

Burnett, J. C., & Rossi, J. J. (2012) · Chemistry & Biology · doi:10.1016/j.chembiol.2011.12.008 · Cited by 819

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

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

Bainbridge, J. W. B., Mehat, M. S., Sundaram, V., Robbie, S. J., Barker, S. E., Ripamonti, C., Georgiadis, A., Mowat, F. M., Beattie, S. G., Gardner, P. J., et al. (2015) · New England Journal of Medicine · doi:10.1056/nejmoa1414221 · Cited by 743

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 · Cited by 739

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

McCarty, D., Monahan, P., & Samulski, R. (2001) · Gene Therapy · doi:10.1038/sj.gt.3301514 · Cited by 735

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

Kim, E., Koo, T., Park, S. W., Kim, D., Kim, K., Cho, H.-Y., Song, D. W., Lee, K. J., Jung, M. H., Kim, S., et al. (2017) · Nature Communications · doi:10.1038/ncomms14500 · Cited by 715

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

Gibson, F., Walsh, J. C., Mburu, P., Varela, A., Brown, K. A., Antonio, M., Beisel, K. W., Steel, K. P., & Brown, S. D. M. (1995) · Nature · doi:10.1038/374062a0 · Cited by 682

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

Gu, S.-M., Thompson, D. A., Srikumari, C. R. S., Lorenz, B., Finckh, U., Nicoletti, A., Murthy, K. R., Rathmann, M., Kumaramanickavel, G., Denton, M. J., et al. (1997) · Nature Genetics · doi:10.1038/ng1097-194 · Cited by 663

A look at autoimmunity and inflammation in the eye

Caspi, R. R. (2010) · Journal of Clinical Investigation · doi:10.1172/jci42440 · Cited by 484

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

Palfi, S., Gurruchaga, J. M., Ralph, G. S., Lepetit, H., Lavisse, S., Buttery, P. C., Watts, C., Miskin, J., Kelleher, M., Deeley, S., et al. (2014) · The Lancet · doi:10.1016/s0140-6736(13)61939-x · Cited by 484

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

Meindl, A., Dry, K. L., Herrmann, K., Manson, F. D. C., Ciccodicola, A., Edgar, A. J., Carvalho, M. R. S., Achatz, H., Hellebrand, H., Lennon, A., et al. (1996) · Nature Genetics · doi:10.1038/ng0596-35 · Cited by 480

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

Nakai, H., Yant, S. R., Storm, T. A., Fuess, S., Meuse, L., & Kay, M. A. (2001) · Journal of Virology · doi:10.1128/jvi.75.15.6969-6976.2001 · Cited by 478

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

Bennett, J., Wellman, J., Marshall, K. A., McCague, S., Ashtari, M., DiStefano-Pappas, J., Elci, O. U., Chung, D. C., Sun, J., Wright, J. F., et al. (2016) · The Lancet · doi:10.1016/s0140-6736(16)30371-3 · Cited by 461

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

Perrault, I., Rozet, J., Calvas, P., Gerber, S., Camuzat, A., Dollfus, H., Châtelin, S., Souied, E. H., Ghazi, I., Leowski, C., et al. (1996) · Nature Genetics · doi:10.1038/ng1296-461 · Cited by 443

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

Cideciyan, A. V., Jacobson, S. G., Beltran, W. A., Sumaroka, A., Świder, M., Iwabe, S., Román, A. J., Olivares, M. B., Schwartz, S., Komáromy, A. M., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1218933110 · Cited by 441

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

Lai, Y., Thomas, G. D., Yue, Y., Yang, H. T., Li, D., Long, C., Judge, L. M., Bostick, B., Chamberlain, J. S., Terjung, R. L., et al. (2009) · Journal of Clinical Investigation · doi:10.1172/jci36612 · Cited by 396

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

Yang, Y., Jooss, K. U., Su, Q., Ertl, H. C. J., & Wilson, J. M. (1996) · PubMed · Cited by 375

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

Disabling Cas9 by an anti-CRISPR DNA mimic

Shin, J. J., Jiang, F., Liu, J., Bray, N., Rauch, B. J., Baik, R., Nogales, E., Bondy‐Denomy, J., Corn, J. E., & Doudna, J. A. (2017) · Science Advances · doi:10.1126/sciadv.1701620 · Cited by 358

Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase

Seabra, M. C., Brown, M. S., & Goldstein, J. L. (1993) · Science · doi:10.1126/science.8380507 · Cited by 337

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

Nandrot, E. F., Kim, Y., Brodie, S. E., Huang, X., Sheppard, D., & Finnemann, S. C. (2004) · The Journal of Experimental Medicine · doi:10.1084/jem.20041447 · Cited by 319

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

Bennett, J., Tanabe, T., Sun, D., Zeng, Y., Kjeldbye, H., Gouras, P., & Maguire, A. M. (1996) · Nature Medicine · doi:10.1038/nm0696-649 · Cited by 316

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

Coppieters, F., Lefever, S., Leroy, B. P., & Baere, E. B. W. D. (2010) · Human Mutation · doi:10.1002/humu.21337 · Cited by 314

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

Parfitt, D. A., Lane, A., Ramsden, C. M., Carr, A. F., Munro, P., Jovanovic, K., Schwarz, N., Kanuga, N., Muthiah, M. N., Hull, S., et al. (2016) · Cell stem cell · doi:10.1016/j.stem.2016.03.021 · Cited by 314

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

Lin, B., Koizumi, A., Tanaka, N., Panda, S., & Masland, R. H. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0806114105 · Cited by 302

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

Bakondi, B., Lv, W., Lü, B., Jones, M. K., Tsai, Y.-C., Kim, K. J., Levy, R., Akhtar, A. A., Breunig, J. J., Svendsen, C. N., et al. (2015) · Molecular Therapy · doi:10.1038/mt.2015.220 · Cited by 300

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

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

Puchta, H., Dujon, B., & Höhn, B. (1993) · Nucleic Acids Research · doi:10.1093/nar/21.22.5034 · Cited by 291

Applications of CRISPR–Cas systems in neuroscience

Heidenreich, M., & Zhang, F. (2015) · Nature reviews. Neuroscience · doi:10.1038/nrn.2015.2 · Cited by 290

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

Abu-Safieh, L., Alrashed, M., Anazi, S., Alkuraya, H., Khan, A. O., Al-Owain, M., Al-Zahrani, J., Al-Abdi, L., Hashem, M., Al-Tarimi, S., et al. (2013) · Genome Research · doi:10.1101/gr.144105.112 · Cited by 276

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

Ruan, G.-X., Barry, E., Yu, D., Lukason, M., Cheng, S. H., & Scaria, A. (2017) · Molecular Therapy · doi:10.1016/j.ymthe.2016.12.006 · Cited by 270

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

Trapani, I., Colella, P., Sommella, A., Iodice, C., Cesi, G., de Simone, S., Marrocco, E., Rossi, S., Giunti, M., Palfi, A., et al. (2014) · EMBO Molecular Medicine · doi:10.1002/emmm.201302948 · Cited by 269

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

Salero, E., Blenkinsop, T. A., Corneo, B., Harris, A., Rabin, D. M., Stern, J. H., & Temple, S. (2012) · Cell stem cell · doi:10.1016/j.stem.2011.11.018 · Cited by 259

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

Hong, D.-H., Pawlyk, B. S., Shang, J., Sandberg, M. A., Berson, E. L., & Li, T. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.97.7.3649 · Cited by 257

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

Kohl, S., Varsányi, B., Antunes, G. A., Baumann, B., Hoyng, C. B., Jägle, H., Rosenberg, T., Kellner, U., Lorenz, B., Salati, R., et al. (2004) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201269 · Cited by 251

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

Gibbs, D., Kitamoto, J., & Williams, D. S. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1130432100 · Cited by 250

X linked retinoschisis.

George, N. D., Yates, J. R. W., & Moore, A. T. (1995) · British Journal of Ophthalmology · doi:10.1136/bjo.79.7.697 · Cited by 250

Optogenetic therapy for retinitis pigmentosa

Busskamp, V., Picaud, S. A., Sahel, J., & Roska, B. (2011) · Gene Therapy · doi:10.1038/gt.2011.155 · Cited by 247

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

Ghazi, N. G., Abboud, E. B., Nowilaty, S. R., Alkuraya, H., Alhommadi, A., Cai, H., Hou, R., Deng, W.-T., Boye, S. L., Almaghamsi, A., et al. (2016) · Human Genetics · doi:10.1007/s00439-016-1637-y · Cited by 243

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

Nandrot, E. F., Anand, M., Almeida, D., Atabai, K., Sheppard, D., & Finnemann, S. C. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0704756104 · Cited by 241

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

Perrault, I., Delphin, N., Hanein, S., Gerber, S., Dufier, J., Roche, O., Defoort‐Dhellemmes, S., Dollfus, H., Fazzi, E., Münnich, A., et al. (2007) · Human Mutation · doi:10.1002/humu.9485 · Cited by 239

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

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

Zhang, Q. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.9.993 · Cited by 229

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

Ellouze, S., Augustin, S., Bouaita, A., Bonnet, C., Simonutti, M., Forster, V., Picaud, S. A., Sahel, J., & Corral‐Debrinski, M. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.08.013 · Cited by 224

Restoration of cone vision in a mouse model of achromatopsia

Alexander, J. J., Umino, Y., Everhart, D., Chang, B., Min, S.-H., Li, Q., Timmers, A. M., Hawes, N. L., Pang, J., Barlow, R. B., et al. (2007) · Nature Medicine · doi:10.1038/nm1596 · Cited by 218

Gene therapy rescues cone function in congenital achromatopsia

Komáromy, A. M., Alexander, J. J., Rowlan, J. S., Garcia, M. M., Chiodo, V. A., Kaya, A., Tanaka, J. C., Acland, G. M., Hauswirth, W. W., & Aguirre, G. D. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq136 · Cited by 217

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

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

Kong, J., Kim, S.-R., Binley, K. E., Pata, I., Doi, K., Männik, J., Zernant-Rajang, J., Kan, O., Iqball, S., Naylor, S., et al. (2008) · Gene Therapy · doi:10.1038/gt.2008.78 · Cited by 214

X-linked retinoschisis: A clinical and molecular genetic review

Tantri, A., Vrabec, T. R., Cu-Unjieng, A., Frost, A. T., Annesley, W. H., & Donoso, L. A. (2004) · Survey of Ophthalmology · doi:10.1016/j.survophthal.2003.12.007 · Cited by 212

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

Arshavsky, V. Y., & Burns, M. E. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.r111.305243 · Cited by 204

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

Pang, J., Chang, B., Kumar, A., Nusinowitz, S., Noorwez, S. M., Li, J., Rani, A., Foster, T. C., Chiodo, V. A., Doyle, T. J., et al. (2005) · Molecular Therapy · doi:10.1016/j.ymthe.2005.09.001 · Cited by 199

Leber hereditary optic neuropathy: current perspectives.

McClelland, C., Meyerson, C., & Van Stavern, G. (2015) · Clinical Ophthalmology · doi:10.2147/opth.s62021 · Cited by 196

Visual Acuity after Retinal Gene Therapy for Choroideremia

Edwards, T. L., Jolly, J. K., Groppe, M., Barnard, A. R., Cottriall, C. L., Tolmachova, T., Black, G. C., Webster, A. R., Lotery, A. J., Holder, G. E., et al. (2016) · New England Journal of Medicine · doi:10.1056/nejmc1509501 · Cited by 195

Genetics and pathological mechanisms of Usher syndrome

Yan, D., & Liu, X. Z. (2010) · Journal of Human Genetics · doi:10.1038/jhg.2010.29 · Cited by 194

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

Zeng, Y., Takada, Y., Kjellström, S., Hiriyanna, K. T., Tanikawa, A., Wawrousek, E. F., Smaoui, N., Caruso, R. C., Bush, R. A., & Sieving, P. A. (2004) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.04-0576 · Cited by 191

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

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

Campochiaro, P. A., Lauer, A. K., Sohn, E. H., Mir, T. A., Naylor, S., Anderton, M. C., Kelleher, M., Harrop, R., Ellis, S., & Mitrophanous, K. A. (2017) · Human Gene Therapy · doi:10.1089/hum.2016.117 · Cited by 186

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

Veske, A., NILSSON, S. E. G., Narfström, K. L., & Gal, A. (1999) · Genomics · doi:10.1006/geno.1999.5754 · Cited by 184

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

Rosenberg, T., Haim, M., Hauch, A., & Parving, A. (1997) · Clinical Genetics · doi:10.1111/j.1399-0004.1997.tb02480.x · Cited by 184

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

Wan, X., Pei, H., Zhao, M.-J., Yang, S., Hu, W.-K., He, H., Ma, S.-Q., Zhang, G., Dong, X.-Y., Chen, C., et al. (2016) · Scientific Reports · doi:10.1038/srep21587 · Cited by 182

Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia.

Weil, D., Levy, G. G., Sahly, I., Lévi-Acobas, F., Blanchard, S., El-Amraoui, A., Crozet, F., Philippe, H., Abitbol, M. M., & Petit, C. (1996) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.93.8.3232 · Cited by 176

Leber Congenital Amaurosis

Perrault, I., Rozet, J., Gerber, S., Ghazi, I., Leowski, C., Ducroq, D., Souied, E. H., Dufier, J., Münnich, A., & Kaplan, J. (1999) · Molecular Genetics and Metabolism · doi:10.1006/mgme.1999.2906 · Cited by 175

Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy

Carvalho, L. S., Xu, J., Pearson, R. A., Smith, A. J., Bainbridge, J. W., Morris, L. M., Fliesler, S. J., Ding, X., & Ali, R. R. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr218 · Cited by 173

In vivo Editing of the Human Mutant Rhodopsin Gene by Electroporation of Plasmid-based CRISPR/Cas9 in the Mouse Retina

Latella, M. C., Salvo, M. T. D., Cocchiarella, F., Benati, D., Grisendi, G., Comitato, A., Marigo, V., & Recchia, A. (2016) · Molecular Therapy — Nucleic Acids · doi:10.1038/mtna.2016.92 · Cited by 168

Evidence for the Failure of Adeno-associated Virus Serotype 5 to Package a Viral Genome ≥8.2 kb

Lai, Y., Yue, Y., & Duan, D. (2010) · Molecular Therapy · doi:10.1038/mt.2009.256 · Cited by 166

Inhibition of retinal neovascularisation by gene transfer of soluble VEGF receptor sFlt-1

Bainbridge, J. W., Mistry, A., de Alwis, M., Paleolog, E. M., Baker, A. H., Thrasher, A. J., & Ali, R. R. (2002) · Gene Therapy · doi:10.1038/sj.gt.3301680 · Cited by 155

Leber Congenital Amaurosis

National Cancer Institute (2020) · Definitions · doi:10.32388/j5tlqb · Cited by 153

Phase 2a randomized clinical trial: safety and post hoc analysis of subretinal rAAV.sFLT-1 for wet age-related macular degeneration

Constable, I. J., Pierce, C. M., Lai, C.-M., Magno, A. L., Degli-Esposti, M. A., French, M. A., McAllister, I. L., Butler, S., Barone, S. B., Schwartz, S. D., et al. (2016) · EBioMedicine · doi:10.1016/j.ebiom.2016.11.016 · Cited by 152

Controlling AAV Tropism in the Nervous System with Natural and Engineered Capsids

Castle, M. J., Turunen, H. T., Vandenberghe, L. H., & Wolfe, J. H. (2016) · Methods in Molecular Biology · doi:10.1007/978-1-4939-3271-9_10 · Cited by 151

Precision Medicine: Genetic Repair of Retinitis Pigmentosa in Patient-Derived Stem Cells

Bassuk, A. G., Zheng, A., Li, Y., Tsang, S. H., & Mahajan, V. B. (2016) · Scientific Reports · doi:10.1038/srep19969 · Cited by 151

Optogenetic Vision Restoration Using Rhodopsin for Enhanced Sensitivity

Gaub, B. M., Berry, M. H., Holt, A., Isacoff, E. Y., & Flannery, J. G. (2015) · Molecular Therapy · doi:10.1038/mt.2015.121 · Cited by 148

Intravitreal delivery of AAV8 retinoschisin results in cell type-specific gene expression and retinal rescue in the Rs1-KO mouse

Park, T. K., Wu, Z., Kjellström, S., Zeng, Y., Bush, R. A., Sieving, P. A., & Colosi, P. (2009) · Gene Therapy · doi:10.1038/gt.2009.61 · Cited by 145

AAV-Mediated gene transfer slows photoreceptor loss in the RCS rat model of retinitis pigmentosa

Smith, A. J., Schlichtenbrede, F. C., Tschernutter, M., Bainbridge, J. W., Thrasher, A. J., & Ali, R. R. (2003) · Molecular Therapy · doi:10.1016/s1525-0016(03)00144-8 · Cited by 141

Usher syndrome (sensorineural deafness and retinitis pigmentosa)

Bonnet, C., & El-Amraoui, A. (2011) · Current Opinion in Neurology · doi:10.1097/wco.0b013e32834ef8b2 · Cited by 134

Species-Specific Differences in Expression of G-Protein-Coupled Receptor Kinase (GRK) 7 and GRK1 in Mammalian Cone Photoreceptor Cells: Implications for Cone Cell Phototransduction

Weiss, E. R., Ducceschi, M. H., Horner, T., Li, A., Craft, C. M., & Osawa, S. (2001) · Journal of Neuroscience · doi:10.1523/jneurosci.21-23-09175.2001 · Cited by 132

CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype

Burnight, E. R., Wiley, L. A., Drack, A. V., Braun, T. A., Anfinson, K. R., Kaalberg, E. E., Halder, J. A., Affatigato, L. M., Mullins, R. F., Stone, E. M., et al. (2014) · Gene Therapy · doi:10.1038/gt.2014.39 · Cited by 128

Dual Adeno-Associated Virus Vectors Result in Efficient In Vitro and In Vivo Expression of an Oversized Gene, MYO7A

Dyka, F. M., Boye, S. L., Chiodo, V. A., Hauswirth, W. W., & Boye, S. E. (2014) · Human Gene Therapy Methods · doi:10.1089/hgtb.2013.212 · Cited by 128

Leber congenital amaurosis: Clinical correlations with genotypes, gene therapy trials update, and future directions

Chung, D. C., & Traboulsi, E. I. (2009) · Journal of American Association for Pediatric Ophthalmology and Strabismus · doi:10.1016/j.jaapos.2009.10.004 · Cited by 126

Rescue of the Stargardt phenotype in Abca4 knockout mice through inhibition of vitamin A dimerization

Charbel Issa, P., Barnard, A. R., Herrmann, P., Washington, I., & MacLaren, R. E. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1506960112 · Cited by 124

The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase

Linari, M., Ueffing, M., Manson, F. D. C., Wright, A. F., Meitinger, T., & Becker, J. D. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.4.1315 · Cited by 124

Mutations in the X-Linked Retinitis Pigmentosa Genes RPGR and RP2 Found in 8.5% of Families with a Provisional Diagnosis of Autosomal Dominant Retinitis Pigmentosa

Churchill, J. D., Bowne, S. J., Sullivan, L. S., Lewis, R. A., Wheaton, D. K., Birch, D. G., Branham, K. E. H., Heckenlively, J. R., & Daiger, S. P. (2013) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.12-11541 · Cited by 124

Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B

Hashimoto, T., Gibbs, D., Lillo, C., Azarian, S. M., Legacki, E. L., Zhang, X., Yang, X.-J., & Williams, D. S. (2007) · Gene Therapy · doi:10.1038/sj.gt.3302897 · Cited by 118

Wild-type equine infectious anemia virus replicates in vivo predominantly in tissue macrophages, not in peripheral blood monocytes

Sellon, D. C., Perry, S. T., Coggins, L., & Fuller, F. J. (1992) · Journal of Virology · doi:10.1128/jvi.66.10.5906-5913.1992 · Cited by 115

AAV-Mediated Cone Rescue in a Naturally Occurring Mouse Model of CNGA3-Achromatopsia

Pang, J., Deng, W., Dai, X., Lei, B., Everhart, D., Umino, Y., Li, J., Zhang, K., Mao, S., Boye, S. L., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0035250 · Cited by 114

Gene Augmentation Therapy Restores Retinal Function and Visual Behavior in a Sheep Model of CNGA3 Achromatopsia

Banin, E., Gootwine, E., Obolensky, A., Ezra-Elia, R., Ejzenberg, A., Zelinger, L., Honig, H., Rosov, A., Yamin, E., Sharon, D., et al. (2015) · Molecular Therapy · doi:10.1038/mt.2015.114 · Cited by 113

Evaluation of AAV-Mediated Expression of Chop2-GFP in the Marmoset Retina

Ivanova, E., Hwang, G.-S., Pan, Z., & Troilo, D. (2010) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.10-5389 · Cited by 112

Retinal gene therapy with a large MYO7A cDNA using adeno-associated virus

Lopes, V. S., Boye, S. E., Louie, C. M., Boye, S., Dyka, F., Chiodo, V, Fofo, H., Hauswirth, W. W., & Williams, D. S. (2013) · Gene Therapy · doi:10.1038/gt.2013.3 · Cited by 112

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies

Patel, N., Aldahmesh, M. A., Alkuraya, H., Anazi, S., Alsharif, H., Khan, A. O., Sunker, A., Al-mohsen, S., Abboud, E. B., Nowilaty, S. R., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.127 · Cited by 111

In vitroandin vivorescue of aberrant splicing inCEP290-associated LCA by antisense oligonucleotide delivery

Garanto, A., Chung, D. C., Duijkers, L., Corral-Serrano, J. C., Messchaert, M., Xiao, R., Bennett, J., Vandenberghe, L. H., & Collin, R. W. J. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw118 · Cited by 111

Adenoviruses as gene/vaccine delivery vectors: Promises and pitfalls

Appaiahgari, M. B., & Vrati, S. (2015) · Expert Opinion on Biological Therapy · doi:10.1517/14712598.2015.993374 · Cited by 110

Untitled work

(1997) · PubMed · Cited by 105

EIAV-Based Retinal Gene Therapy in the shaker1 Mouse Model for Usher Syndrome Type 1B: Development of UshStat

Zallocchi, M., Binley, K., Lad, Y., Ellis, S., Widdowson, P. S., Iqball, S., Scripps, V., Kelleher, M., Loader, J., Miskin, J., et al. (2014) · PLoS ONE · doi:10.1371/journal.pone.0094272 · Cited by 104

Efficient gene delivery to the cone-enriched pig retina by dual AAV vectors

Colella, P., Trapani, I., Cesi, G., Sommella, A., Manfredi, A., Puppo, A., Iodice, C., Rossi, S., Simonelli, F., Giunti, M., et al. (2014) · Gene Therapy · doi:10.1038/gt.2014.8 · Cited by 103

Reprogramming metabolism by targeting sirtuin 6 attenuates retinal degeneration

Zhang, L., Du, J., Justus, S., Hsu, C., Bonet‐Ponce, L., Wu, W.-H., Tsai, Y.-T., Wu, W., Jia, Y., Duong, J., et al. (2016) · Journal of Clinical Investigation · doi:10.1172/jci86905 · Cited by 102

Aberrant splicing of the CHM gene is a significant cause of choroideremia

Sankila, E., Tolvanen, R., van den Hurk, J. A. J. M., Cremers, F. P. M., & de la Chapelle, A. (1992) · Nature Genetics · doi:10.1038/ng0592-109 · Cited by 99

CRISPR Repair Reveals Causative Mutation in a Preclinical Model of Retinitis Pigmentosa

Wu, W.-H., Tsai, Y.-T., Justus, S., Lee, T.-T., Zhang, L., Lin, C., Bassuk, A. G., Mahajan, V. B., & Tsang, S. H. (2016) · Molecular Therapy · doi:10.1038/mt.2016.107 · Cited by 99

Retinoschisin gene therapy in photoreceptors, Müller glia or all retinal cells in the Rs1h−/− mouse

Byrne, L. C., Öztürk, B. E., Lee, T., Fortuny, C., Visel, M., Dalkara, D., Schaffer, D. V., & Flannery, J. G. (2014) · Gene Therapy · doi:10.1038/gt.2014.31 · Cited by 96

The mutant human ND4 subunit of complex I induces optic neuropathy in the mouse

Qi, X., Sun, L., Lewin, A. S., Hauswirth, W. W., & Guy, J. (2007) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.06-0789 · Cited by 96

Improved dual AAV vectors with reduced expression of truncated proteins are safe and effective in the retina of a mouse model of Stargardt disease

Trapani, I., Toriello, E., de Simone, S., Colella, P., Iodice, C., Polishchuk, E. V., Sommella, A., Colecchi, L., Rossi, S., Simonelli, F., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv386 · Cited by 94

Allelic and phenotypic heterogeneity inABCA4mutations

Burke, T. R., & Tsang, S. H. (2011) · Ophthalmic Genetics · doi:10.3109/13816810.2011.565397 · Cited by 91

Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.

Mackay, D. S., Henderson, R., Sergouniotis, P. I., Li, Z., Moradi, P., Holder, G. E., Waseem, N. H., Bhattacharya, S. S., Aldahmesh, M. A., Alkuraya, F. S., et al. (2010) · PubMed Central · Cited by 90

Achromatopsia

Remmer, M. H., Rastogi, N., Ranka, M. P., & Ceisler, E. J. (2015) · Current Opinion in Ophthalmology · doi:10.1097/icu.0000000000000189 · Cited by 88

Stable and efficient intraocular gene transfer using pseudotyped EIAV lentiviral vectors

Balaggan, K. S., Binley, K. E., Esapa, M., Iqball, S., Askham, Z., Kan, O., Tschernutter, M., Bainbridge, J. W., Naylor, S., & Ali, R. R. (2005) · The Journal of Gene Medicine · doi:10.1002/jgm.845 · Cited by 86

Cut and Paste: Efficient Homology-Directed Repair of a Dominant Negative KRT14 Mutation via CRISPR/Cas9 Nickases

Köcher, T., Peking, P., Klausegger, A., Murauer, E. M., Hofbauer, J. P., Wally, V., Lettner, T., Hainzl, S., Ablinger, M., Bauer, J. W., et al. (2017) · Molecular Therapy · doi:10.1016/j.ymthe.2017.08.015 · Cited by 86

Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D

Sharon, D., Wimberg, H., Kinarty, Y., & Koch, K. (2017) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2017.10.003 · Cited by 86

Cone-Specific Promoters for Gene Therapy of Achromatopsia and Other Retinal Diseases

Ye, G., Budzynski, E., Sonnentag, P. J., Nork, T. M., Sheibani, N., Gürel, Z., Boye, S. L., Peterson, J. J., Boye, S. L., Hauswirth, W. W., et al. (2015) · Human Gene Therapy · doi:10.1089/hum.2015.130 · Cited by 85

AAV-Mediated Gene Therapy for Choroideremia: Preclinical Studies in Personalized Models

Vasireddy, V., Mills, J. A., Gaddameedi, R., Basner‐Tschakarjan, E., Köhnke, M., Black, A. D., Alexandrov, K. A., Zhou, S., Maguire, A. M., Chung, D. C., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0061396 · Cited by 83

Towards personalised allele-specific CRISPR gene editing to treat autosomal dominant disorders

Christie, K. A., Courtney, D., DeDionisio, L., Chao-Shern, C., Majumdar, S. D., Mairs, L., Nesbit, M. A., & Moore, T. (2017) · Scientific Reports · doi:10.1038/s41598-017-16279-4 · Cited by 83

RPE65 Gene Delivery Restores Isomerohydrolase Activity and Prevents Early Cone Loss in Rpe65−/−Mice

Chen, Y., Moiseyev, G., Takahashi, Y., & Ma, J.-X. (2006) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.05-0965 · Cited by 80

Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model

Moosajee, M., Tracey‐White, D., Smart, M. J. K., Weetall, M. L., Torriano, S., Kalatzis, V., da Cruz, L., Coffey, P. J., Webster, A. R., & Welch, E. M. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw184 · Cited by 77

Long-Term Preservation of Cones and Improvement in Visual Function Following Gene Therapy in a Mouse Model of Leber Congenital Amaurosis Caused by Guanylate Cyclase-1 Deficiency

Mihelec, M., Pearson, R. A., Robbie, S. J., Buch, P. K., Azam, S. A., Bainbridge, J. W., Smith, A. J., & Ali, R. R. (2011) · Human Gene Therapy · doi:10.1089/hum.2011.069 · Cited by 72

Regulation of signaling events involved in the pathophysiology of neovascular AMD.

Wang, H., & Hartnett, M. E. (2016) · Europe PMC (PubMed Central) · Cited by 72

Ocular Delivery of Compacted DNA-Nanoparticles Does Not Elicit Toxicity in the Mouse Retina

Ding, X., Quiambao, A. B., Fitzgerald, J. B., Cooper, M. J., Conley, S. M., & Naash, M. I. (2009) · PLoS ONE · doi:10.1371/journal.pone.0007410 · Cited by 71

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

Sengillo, J. D., Justus, S., Tsai, Y., Cabral, T., & Tsang, S. H. (2016) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31534 · Cited by 70

Novel therapeutics for Stargardt disease

Lu, L. J., Liu, J., & Adelman, R. A. (2017) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/s00417-017-3619-8 · Cited by 70

RPGR- Associated Retinal Degeneration in Human X-Linked RP and a Murine Model

Huang, W. C., Wright, A. F., Román, A. J., Cideciyan, A. V., Manson, F. D. C., Gewaily, D. Y., Schwartz, S., Sadigh, S., Limberis, M. P., Bell, P. L., et al. (2012) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.12-10070 · Cited by 65

Dominant, Gain-of-Function Mutant Produced by Truncation of RPGR

Hong, D.-H., Pawlyk, B. S., Adamian, M., & Li, T. (2003) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.03-0787 · Cited by 62

Complex expression pattern of RPGR reveals a role for purine-rich exonic splicing enhancers.

Hong, D.-H., & Li, T. (2002) · PubMed · Cited by 61

MicroRNA‐184 modulates canonical Wnt signaling through the regulation of frizzled‐7 expression in the retina with ischemia‐induced neovascularization

Takahashi, Y., Chen, Q., Rajala, R. V. S., & Ma, J. (2015) · FEBS Letters · doi:10.1016/j.febslet.2015.03.010 · Cited by 61

Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis

Zhang, W., Li, L., Su, Q., Gao, G., & Khanna, H. (2018) · Human Gene Therapy · doi:10.1089/hum.2017.049 · Cited by 60

Inclusion of the Woodchuck Hepatitis Virus Posttranscriptional Regulatory Element Enhances AAV2-Driven Transduction of Mouse and Human Retina

Patrício, M. I., Barnard, A. R., Orlans, H. O., McClements, M. E., & MacLaren, R. E. (2017) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2016.12.006 · Cited by 59

Tyrosine-Mutant AAV8 Delivery of Human MERTK Provides Long-Term Retinal Preservation in RCS Rats

Deng, W., Dinculescu, A., Li, Q., Boye, S. L., Li, J., Gorbatyuk, M. S., Pang, J., Chiodo, V. A., Matthes, M. T., Yasumura, D., et al. (2012) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.11-8831 · Cited by 55

Safety and Biodistribution Evaluation in Cynomolgus Macaques of rAAV2tYF-CB-hRS1, a Recombinant Adeno-Associated Virus Vector Expressing Retinoschisin

Ye, G.-J., Budzynski, E., Sonnentag, P., Miller, P. E., Sharma, A. K., Ver Hoeve, J. N., Howard, K., Knop, D. R., Neuringer, M., McGill, T., et al. (2015) · Human Gene Therapy Clinical Development · doi:10.1089/humc.2015.076 · Cited by 53

Retinal Guanylyl Cyclase Isozyme 1 Is the Preferential In Vivo Target for Constitutively Active GCAP1 Mutants Causing Congenital Degeneration of Photoreceptors

Olshevskaya, E. V., Peshenko, I. V., Savchenko, A. B., & Dizhoor, A. M. (2012) · Journal of Neuroscience · doi:10.1523/jneurosci.0976-12.2012 · Cited by 51

Structural and Functional Recovery Following Limited Iatrogenic Macular Detachment for Retinal Gene Therapy

Simunovic, M. P., Xue, K., Jolly, J. K., & MacLaren, R. E. (2017) · JAMA Ophthalmology · doi:10.1001/jamaophthalmol.2016.5630 · Cited by 50

An eye’s view of T regulatory cells

Stein‐Streilein, J., & Taylor, A. W. (2006) · Journal of Leukocyte Biology · doi:10.1189/jlb.0606383 · Cited by 48

The use of tinted contact lenses in the management of achromatopsia

Schornack, M. M., Brown, W. L., & Siemsen, D. W. (2007) · Optometry · doi:10.1016/j.optm.2006.07.012 · Cited by 47

Test–Retest Variability of Functional and Structural Parameters in Patients with Stargardt Disease Participating in the SAR422459 Gene Therapy Trial

Parker, M. A., Choi, D., Erker, L. R., Pennesi, M. E., Yang, P. G., Chegarnov, E. N., Steinkamp, P., Schlechter, C. L., Dhaenens, C., Mohand‐Saïd, S., et al. (2016) · Translational Vision Science & Technology · doi:10.1167/tvst.5.5.10 · Cited by 47

Single choroideremia Gene in Nonmammalian Vertebrates Explains Early Embryonic Lethality of the Zebrafish Model of Choroideremia

Moosajee, M., Tulloch, M., Baron, R., Gregory, C. Y., Pereira‐Leal, J. B., & Seabra, M. C. (2009) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.08-2755 · Cited by 43

Leber’s hereditary optic neuropathy is multiorgan not mono-organ

Finsterer, J., & Zarrouk‐Mahjoub, S. (2016) · Clinical ophthalmology · doi:10.2147/opth.s120197 · Cited by 43

Gene Therapy Fully Restores Vision to the All-Cone Nrl −/− Gucy2e −/− Mouse Model of Leber Congenital Amaurosis-1

Boye, S. L., Peterson, J. J., Choudhury, S., Min, S. H., Ruan, Q., McCullough, K. T., 张忠红, Olshevskaya, E. V., Peshenko, I. V., Hauswirth, W. W., et al. (2015) · Human Gene Therapy · doi:10.1089/hum.2015.053 · Cited by 41

Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure

Weber, B. H. F., Schrewe, H., Molday, L. L., Gehrig, A., White, K. L., Seeliger, M. W., Jaissle, G. B., Friedburg, C., Tamm, E., & Molday, R. S. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.092528599 · Cited by 41

Gene Therapy for Color Blindness.

Hassall, M., Barnard, A. R., & MacLaren, R. E. (2017) · PubMed · Cited by 40

Homozygous Mutation in MERTK Causes Severe Autosomal Recessive Retinitis Pigmentosa

Ksantini, M., Lafont, E., Bocquet, B., Meunier, I., & Hamel, C. (2011) · European Journal of Ophthalmology · doi:10.5301/ejo.5000096 · Cited by 39

Correction of Monogenic and Common Retinal Disorders with Gene Therapy

Sengillo, J. D., Justus, S., Cabral, T., & Tsang, S. H. (2017) · Genes · doi:10.3390/genes8020053 · Cited by 39

Retinoschisin is linked to retinal Na/K-ATPase signaling and localization

Plößl, K., Royer, M., Bernklau, S., Tavraz, N. N., Friedrich, T., Wild, J., Weber, B. H. F., & Friedrich, U. (2017) · Molecular Biology of the Cell · doi:10.1091/mbc.e17-01-0064 · Cited by 37

Gene transfer to the outflow tract

Dang, Y., Loewen, R. T., Parikh, H., Roy, P., & Loewen, N. A. (2016) · Experimental Eye Research · doi:10.1016/j.exer.2016.04.023 · Cited by 35

Myosin7a Deficiency Results in Reduced Retinal Activity Which Is Improved by Gene Therapy

Colella, P., Sommella, A., Marrocco, E., Di Vicino, U., Polishchuk, E., Garrido, M. G., Seeliger, M. W., Polishchuk, R., & Auricchio, A. (2013) · PLoS ONE · doi:10.1371/journal.pone.0072027 · Cited by 34

CRISPR applications in ophthalmologic genome surgery

Cabral, T., DiCarlo, J. E., Justus, S., Sengillo, J. D., Xu, Y., & Tsang, S. H. (2017) · Current Opinion in Ophthalmology · doi:10.1097/icu.0000000000000359 · Cited by 33

Otx2-Genetically Modified Retinal Pigment Epithelial Cells Rescue Photoreceptors after Transplantation

Kole, C., Klipfel, L., Yang, Y., Ferracane, V., Blond, F., Reichman, S., Millet-Puel, G., Clérin, E., Aït-Ali, N., Pagan, D., et al. (2017) · Molecular Therapy · doi:10.1016/j.ymthe.2017.09.007 · Cited by 32

A reproducible and quantifiable model of choroidal neovascularization induced by VEGF A165 after subretinal adenoviral gene transfer in the rabbit.

Julien, S., Kreppel, F., Beck, S. C., Heiduschka, P., Brito, V., Schnichels, S., Kochanek, S., & Schraermeyer, U. (2008) · Europe PMC (PubMed Central) · Cited by 30

Dual AAV Vectors for Stargardt Disease

Trapani, I. (2017) · Methods in molecular biology · doi:10.1007/978-1-4939-7522-8_11 · Cited by 30

Safety and Biodistribution Evaluation of rAAV2tYF-CB-hRS1, a Recombinant Adeno-Associated Virus Vector Expressing Retinoschisin, in RS1-Deficient Mice

Ye, G., Conlon, T. J., Erger, K. E., Sonnentag, P. J., Sharma, A. K., Howard, K., Knop, D. R., & Chulay, J. D. (2015) · Human Gene Therapy Clinical Development · doi:10.1089/humc.2015.077 · Cited by 28

Gene Augmentation for X-Linked Retinitis Pigmentosa Caused by Mutations in RPGRPreprint

Beltran, W. A., Cideciyan, A. V., Lewin, A. S., Hauswirth, W. W., Jacobson, S. G., & Aguirre, G. D. (2014) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a017392 · Cited by 27

Ocular Localization and Transduction by Adenoviral Vectors Are Serotype-Dependent and Can Be Modified by Inclusion of RGD Fiber Modifications

Ueyama, K., Mori, K., Shoji, T., Omata, H., Gehlbach, P. L., Brough, D. E., Wei, L. L., & Yoneya, S. (2014) · PLoS ONE · doi:10.1371/journal.pone.0108071 · Cited by 20

Targeted RP9 ablation and mutagenesis in mouse photoreceptor cells by CRISPR-Cas9

Lv, J., Zhou, G.-H., Chen, X., Chen, H., Wu, K., Xiang, L., Lei, X., Zhang, X., Wu, R., & Jin, Z. (2017) · Scientific Reports · doi:10.1038/srep43062 · Cited by 20

Viral Vectors, Engineered Cells and the CRISPR Revolution

DiCarlo, J. E., Deeconda, A., & Tsang, S. H. (2017) · Advances in experimental medicine and biology · doi:10.1007/978-3-319-63904-8_1 · Cited by 19

Combination of oncolytic adenovirus and endostatin inhibits human retinoblastoma in an in vivo mouse model

Wang, H., Wei, F., Li, H., Ji, X., Li, S., & Chen, X. (2012) · International Journal of Molecular Medicine · doi:10.3892/ijmm.2012.1197 · Cited by 16

An ex vivo gene therapy approach in X-linked retinoschisis.

Bashar, E., Metcalfe, A. L., viringipurampeer, I. A., Yanai, A., Gregory, C. Y., & Gregory-Evans, K. (2016) · PubMed Central · Cited by 16

CRISPR-Cas Genome Surgery in Ophthalmology

DiCarlo, J. E., Sengillo, J. D., Justus, S., Cabral, T., Tsang, S. H., & Mahajan, V. B. (2017) · Translational Vision Science & Technology · doi:10.1167/tvst.6.3.13 · Cited by 15

Engineered AAV vectors for improved central nervous system gene delivery

Kotterman, M. A., & Schaffer, D. V. (2015) · Neurogenesis · doi:10.1080/23262133.2015.1122700 · Cited by 9

In vivo versus ex vivo CRISPR therapies for retinal dystrophy

Bakondi, B. (2016) · Expert Review of Ophthalmology · doi:10.1080/17469899.2016.1251316 · Cited by 8

RNAi therapy: Dominant disease gene gets silenced

Xu, Z., & Xia, X. (2005) · Gene Therapy · doi:10.1038/sj.gt.3302537 · Cited by 4

Developing an AAV dual vector ABCA4 gene therapy treatment for Stargardt disease

McClements, M. E., Singh, M. S., Issa, P. C., & MacLaren, R. E. (2014) · Investigative Ophthalmology & Visual Science · Cited by 1

Gene Therapy Restores Missing Cone-Mediated Vision in the CNGA3$^{−/−}$ Mouse Model of Achromatopsia

Michalakis, S., Mühlfriedel, R. L., Tanimoto, N., Krishnamoorthy, V., Koch, S., Fischer, M. H., Becirovic, E., Bai, L., Huber, G., Beck, S. C., et al. (2011) · Zurich Open Repository and Archive (University of Zurich) · doi:10.1007/978-1-4614-0631-0_25

Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR

Cehajic-Kapetanovic, J., Xue, K., Martinez-Fernandez de la Camara, C., Nanda, A., Davies, A., Wood, L. J., Salvetti, A. P., Fischer, M. D., Aylward, J. W., Barnard, A. R., et al. (2020) · Nature Medicine · doi:10.1038/s41591-020-0763-1 · Cited by 368

Therapeutic AAV Gene Transfer to the Nervous System: A Clinical Reality

Hudry, E., & Vandenberghe, L. H. (2019) · Neuron · doi:10.1016/j.neuron.2019.02.017 · Cited by 383

Retina Metabolism and Metabolism in the Pigmented Epithelium: A Busy Intersection

Hurley, J. B. (2021) · Annual Review of Vision Science · doi:10.1146/annurev-vision-100419-115156 · Cited by 205

Early and late stage gene therapy interventions for inherited retinal degenerations

Botto, C., Rucli, M., Tekinsoy, M. D., Pulman, J., Sahel, J.-A., & Dalkara, D. (2022) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2021.100975 · Cited by 190

Transplantation of photoreceptors into the degenerative retina: Current state and future perspectives

Gasparini, S. J., Llonch, S., Borsch, O., & Ader, M. (2018) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2018.11.001 · Cited by 189

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

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

Genome Surgery and Gene Therapy in Retinal Disorders.

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

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