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Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial
Open accessAbstract
Background Choroideremia is an X-linked recessive disease that leads to blindness due to mutations in the CHM gene, which encodes the Rab escort protein 1 (REP1). We assessed the effects of retinal gene therapy with an adeno-associated viral (AAV) vector encoding REP1 (AAV.REP1) in patients with this disease.Methods In a multicentre clinical trial, six male patients (aged 35-63 years) with choroideremia were administered AAV.REP1 (0·6-1·0×10(10) genome particles, subfoveal injection). Visual function tests included best corrected visual acuity, microperimetry, and retinal sensitivity tests for comparison of baseline values with 6 months after surgery. This study is registered with ClinicalTrials.gov, number NCT01461213.Findings Despite undergoing retinal detachment, which normally reduces vision, two patients with advanced choroideremia who had low baseline best corrected visual acuity gained 21 letters and 11 letters (more than two and four lines of vision). Four other patients with near normal best corrected visual acuity at baseline recovered to within one to three letters. Mean gain in visual acuity overall was 3·8 letters (SE 4·1). Maximal sensitivity measured with dark-adapted microperimetry increased in the treated eyes from 23·0 dB (SE 1·1) at baseline to 25·3 dB (1·3) after treatment (increase 2·3 dB [95% CI 0·8-3·8]). In all patients, over the 6 months, the increase in retinal sensitivity in the treated eyes (mean 1·7 [SE 1·0]) was correlated with the vector dose administered per mm(2) of surviving retina (r=0·82, p=0·04). By contrast, small non-significant reductions (p>0·05) were noted in the control eyes in both maximal sensitivity (-0·8 dB [1·5]) and mean sensitivity (-1·6 dB [0·9]). One patient in whom the vector was not administered to the fovea re-established variable eccentric fixation that included the ectopic island of surviving retinal pigment epithelium that had been exposed to vector.Interpretation The initial results of this retinal gene therapy trial are consistent with improved rod and cone function that overcome any negative effects of retinal detachment. These findings lend support to further assessment of gene therapy in the treatment of choroideremia and other diseases, such as age-related macular degeneration, for which intervention should ideally be applied before the onset of retinal thinning.Funding UK Department of Health and Wellcome Trust.
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“Despite a 28-day oral corticosteroid therapy started 2 days before the first IVT, a regimen similar to that provided in several other clinical studies using IVT or sub-retinal AAV-based gene therapies,41–45 70.7% of lenadogene nolparvovec-treated eyes developed some degree of intraocular inflammation versus 10.2% of placebo-treated eyes.”
From Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy (2023) · cites this paper as [44]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
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“As a consequence, wild-type AAV-based gene therapies for ophthalmologic indications generally require relatively high doses and/or administration via subretinal injection, an invasive surgical procedure that requires detachment of photoreceptors from the RPE and reportedly results in transduction of <5% of the retinal surface. 25 – 27”
From Design and Characterization of a Novel Intravitreal Dual-Transgene Genetic Medicine for Neovascular Retinopathies (2024) · cites this paper as [26]
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
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“Although adeno-associated viral (AAV) vector-mediated retinal gene therapies have demonstrated efficacy”
From Characterizing the cellular immune response to subretinal AAV gene therapy in the murine retina (2021) · cites this paper as [4]
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“Moreover, a recent phase I trial for choroideremia showed promising signs of efficacy.15”
From Antibody neutralization poses a barrier to intravitreal adeno-associated viral vector gene delivery to non-human primates (2015) · cites this paper as [15]
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“Adeno-associated virus has been successful in clinical gene therapy trials for Leber's congenital amaurosis, hemophilia, familial lipoprotein lipase deficiency, and choroideremia.8–15,26,27,60,61”
From Antibody neutralization poses a barrier to intravitreal adeno-associated viral vector gene delivery to non-human primates (2015) · cites this paper as [15]
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“A different approach to subretinal injection is a 'two-step ' injection with initiation of a small 'pre-bleb ' using balanced saline solution (BSS) followed by slow propagation of the bleb using the viral vector (MacLaren et al., 2014). A considerable advantage of two-step injection is that it allows bleb propagation at a lower injection pressure (Scruggs et al., 2022).”
From Gene Therapy-Associated Uveitis (GTAU): Understanding and mitigating the adverse immune response in retinal gene therapy (2025) · cites this paper as MacLaren et al., 2014
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“Significant inflammation was also observed at 1 × 1011 vg in clinical trials for choroideremia.90,102”
From Current clinical applications of in vivo gene therapy with AAVs (2021) · cites this paper as [102]
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“Injection protocols dating to 2014 (30, 31) called for a 2-step procedure, which largely avoids causing a break in Bruch's membrane but does not completely eliminate the risk (20, 32).”
From Subretinal therapy: technological solutions to surgical and immunological challenges (2022) · cites this paper as [30]
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“while subretinal viral gene therapy has a favourable safety profile [300]”
From Bruch’s Membrane: A Key Consideration with Complement-Based Therapies for Age-Related Macular Degeneration (2023) · cites this paper as [300]
In the citing paper
“A phase I/II clinical trial of subretinal gene therapy using an AAV2 vector to deliver human REP1 to the outer retina has shown sustained preservation or improvement of visual acuity over 2 to 5 years in patients with advanced disease [MacLaren 2014, Xue 2018].”
From Correcting visual loss by genetics and prosthetics (2020) · cites this paper as MacLaren 2014
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Citations
Cites
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
Maguire, A. M., High, K. A., Auricchio, A., Wright, J. F., Pierce, E. A., Testa, F., Mingozzi, F., Bennicelli, J. L., Ying, G.-S., Rossi, S., et al. (2009) · The Lancet · doi:10.1016/s0140-6736(09)61836-5 · Cited by 865
LeWitt, P. A., Rezai, A. R., Leehey, M. A., Ojemann, S. G., Flaherty, A. W., Eskandar, E. N., Kostyk, S. K., Thomas, K., Sarkar, A., Siddiqui, M. S., et al. (2011) · The Lancet Neurology · doi:10.1016/s1474-4422(11)70039-4 · Cited by 681
Self-citationJacobson, S. G. (2012) · Archives of Ophthalmology · doi:10.1001/archophthalmol.2011.298 · Cited by 639
Sieving, P. A., Caruso, R. C., Tao, W., Coleman, H. R., Thompson, D. J. S., Fullmer, K. R., & Bush, R. A. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0600236103 · Cited by 591
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
AAV2 Gene Therapy Readministration in Three Adults with Congenital Blindness
Bennett, J., Ashtari, M., Wellman, J., Marshall, K. A., Cyckowski, L. L., Chung, D. C., McCague, S., Pierce, E. A., Chen, Y., Bennicelli, J. L., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3002865 · Cited by 395
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
Self-citationCloning of a gene that is rearranged in patients with choroideraemia
Cremers, F. P. M., van de Pol, D. J. R., van Kerkhoff, L. P. M., Wieringa, B., & Ropers, H.-H. (1990) · Nature · doi:10.1038/347674a0 · Cited by 333
Self-citationLoeb, J. E., Cordier, W. S., Harris, M. E., Weitzman, M. D., & Hope, T. J. (1999) · Human Gene Therapy · doi:10.1089/10430349950016942 · Cited by 279
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Latasiewicz, M., Salvetti, A. P., & MacLaren, R. E. (2017) · Ophthalmic Genetics · doi:10.1080/13816810.2017.1313994 · Cited by 4
Self-citationCRISPR in the Retina: Evaluation of Future Potential
Cho, G. Y., Justus, S., Sengillo, J. D., & Tsang, S. H. (2017) · Advances in experimental medicine and biology · doi:10.1007/978-3-319-63904-8_8 · Cited by 4
Dan, H., Li, T., Lei, X., Huang, X., Xing, Y., & Shen, Y. (2020) · Bioscience Reports · doi:10.1042/bsr20200067 · Cited by 4
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Zhai, Y., Oke, S., & MacDonald, I. M. (2021) · Translational Vision Science & Technology · doi:10.1167/tvst.10.6.17 · Cited by 4
Genes and Gene Therapy in Inherited Retinal Disease
Shughoury, A., Ciulla, T. A., Bakall, B., Pennesi, M. E., Kiss, S., & Cunningham, E. T. (2021) · International Ophthalmology Clinics · doi:10.1097/iio.0000000000000377 · Cited by 4
Suárez-Herrera, N., Riswick, I. B., Vázquez-Domínguez, I., Duijkers, L., Karjosukarso, D. W., Piccolo, D., Bauwens, M., Baere, E. B. W. D., Cheetham, M. E., Garanto, A., et al. (2024) · Molecular Therapy · doi:10.1016/j.ymthe.2024.01.019 · Cited by 4
Recent highlights and advances in cardiac gene therapy.
Oh, J. G., & Ishikawa, K. (2019) · PubMed · Cited by 4
Emerging Gene Manipulation Strategies for the Treatment of Monogenic Eye Disease
Burgess, F. R., Hall, H. N., & Megaw, R. D. (2022) · Asia-Pacific Journal of Ophthalmology · doi:10.1097/apo.0000000000000545 · Cited by 4
Molecular biology tools for the study and therapy of PDE6β mutations
Bitoque, D. B., & Silva, G. A. (2018) · Journal of Biotechnology · doi:10.1016/j.jbiotec.2018.07.030 · Cited by 4
Adeno‐associated Viral Vectors in Gene Therapy
Ling, C., Zhong, L., & Srivastava, A. (2018) · Wiley eBooks · doi:10.1002/9780470015902.a0005738.pub3 · Cited by 6
Ji, Y., Yu, B., Zhang, Y., & Wu, W. (2022) · European Journal of Ophthalmology · doi:10.1177/11206721211049001 · Cited by 3
A novel frameshift variant in LAMP2 gene mimicking choroideremia carrier retinopathy
Narayan, A. R., Taylor, L. J., Sperring, S., Shanks, M. E., Clouston, P., MacLaren, R. E., & Cehajic‐Kapetanovic, J. (2024) · Ophthalmic Genetics · doi:10.1080/13816810.2024.2404148 · Cited by 3
Self-citationAAV shuffles to the liver: commentary on Lisowski et al.
Schaffer, D. V. (2014) · Molecular Therapy — Methods & Clinical Development · doi:10.1038/mtm.2014.6 · Cited by 3
Kogachi, K., Wolfe, J. D., & Kashani, A. H. (2017) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.17-22737 · Cited by 3
Brunetti‐Pierri, N. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-817344-2.00030-7 · Cited by 4
Martín-Gutiérrez, M. P., Buckley, T. M. W., & MacLaren, R. E. (2021) · European Journal of Ophthalmology · doi:10.1177/1120672121994722 · Cited by 3
Self-citationGene therapy in PIDs, hemoglobin, ocular, neurodegenerative, and hemophilia B disorders
Odiba, A. S., Okoro, N. O., Durojaye, O. A., & Wu, Y. (2021) · Open Life Sciences · doi:10.1515/biol-2021-0033 · Cited by 3
Molecular Therapy for Choroideremia: Pre-clinical and Clinical Progress to Date
Kalatzis, V., Roux, A., & Meunier, I. (2021) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-021-00558-y · Cited by 4
Fixation Location and Stability in Best Vitelliform Macular Dystrophy
Bianco, L., Arrigo, A., Marchese, A., Antropoli, A., Aragona, E., Franca, L. L., Mauro, L., Pina, A., Farah, R. H., Basile, G., et al. (2023) · Ophthalmology Science · doi:10.1016/j.xops.2023.100329 · Cited by 3
Sub-Retinal Delivery of Human Embryonic Stem Cell Derived Photoreceptor Progenitors in rd10 Mice
Tun, S. B. B., Shepherdson, E., Tay, H. G., & Barathi, V. A. (2023) · Journal of Visualized Experiments · doi:10.3791/65848 · Cited by 3
Xie, M., Wang, L., Deng, Y., Ma, K., Yin, H., Zhang, X., Xiang, X., & Tang, J. (2024) · Journal of Ophthalmology · doi:10.1155/2024/5487973 · Cited by 4
Hao, M.-Y., Su, W., Xu, J.-Y., Chen, Z.-R., He, L., Guo, J., Liu, K., Gong, S., & Wang, G. (2025) · Neuroscience Letters · doi:10.1016/j.neulet.2025.138136 · Cited by 3
Translational readthrough inducing drugs for the treatment of inherited retinal dystrophies
Way, C., Cunha, D. L., & Moosajee, M. (2020) · Expert Review of Ophthalmology · doi:10.1080/17469899.2020.1762489 · Cited by 3
Velho, R. V., Sperb‐Ludwig, F., & Schwartz, I. V. D. (2015) · Anais da Academia Brasileira de Ciências · doi:10.1590/0001-3765201520140711 · Cited by 3
Medical research: Gene-therapy reboot
Cassiday, L. T. (2014) · Nature · doi:10.1038/nj7502-651a · Cited by 3
Gene Therapy for Blinding Pediatric Eye Disorders
Dumitrescu, A. V., & Drack, A. V. (2015) · Advances in Pediatrics · doi:10.1016/j.yapd.2015.04.012 · Cited by 3
Gene-Based Therapies for Leber Hereditary Optic Neuropathy. Hype or Hope?
Mackey, D. A., Kearns, L. S., & Hewitt, A. W. (2016) · Asia-Pacific Journal of Ophthalmology · doi:10.1097/apo.0000000000000220 · Cited by 3
Trends in orally viral vector gene delivery and therapy
Xie, J., & Xu, R. (2017) · Elsevier eBooks · doi:10.1016/b978-0-323-47720-8.00006-7 · Cited by 3
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
AAV-Mediated Gene Therapy for CRB1-Hereditary Retinopathies
Alves, C. H., & Wijnholds, J. (2019) · IntechOpen eBooks · doi:10.5772/intechopen.79308 · Cited by 3
Medical Therapy for Glaucoma-IOP Lowering Agents
Momont, A. C., & Kaufman, P. L. (2019) · Springer eBooks · doi:10.1007/978-981-13-2733-9_5 · Cited by 3
Gene therapy for inherited retinal diseases
Dhooge, P. P. A., Valkenburg, D., & Hoyng, C. B. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-816222-4.00017-4 · Cited by 3
Ruberto, G., Guagliano, R., Barillà, D., Bensi, M., Fazzi, E. M., Galli, J., Rossi, A., Mazza, C., Manzoni, F., Domenegati, E., et al. (2020) · International Ophthalmology · doi:10.1007/s10792-020-01432-2 · Cited by 3
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Kim, S. J. (2022) · Springer eBooks · doi:10.1007/978-981-16-7337-5_16 · Cited by 3
MacDonald, I. M., Binczyk, N. M., Radziwon, A., & Dimopoulos, I. S. (2020) · Retina atlas · doi:10.1007/978-981-15-0414-3_8 · Cited by 3
Progress and Prospects for Non‐Viral Gene Therapy
Tiwari, S. (2023) · doi:10.1002/9781394175635.ch5 · Cited by 3
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Barthelemy, N., Sridhar, J. S., & Sengillo, J. D. (2025) · Bioengineering · doi:10.3390/bioengineering12101072 · Cited by 2
Toward Precision Medicine: Gene Therapy Applications in the Management of Uveal Melanoma
Azani, A., Ghassemifar, V., Mehrdad, Z., Saberivand, M., Pour, A. B., Tahmasebi, S., Gharedaghi, H., Sharafi, M., Foroozand, H., Meigoli, M. S. S., et al. (2025) · Cancer Reports · doi:10.1002/cnr2.70425 · Cited by 2
Surgical Aspects in Gene Therapy for Inherited Retinal Diseases
Fischer, M. D., Bartz‐Schmidt, K. U., Dimopoulos, S., Herrmann, P., Gerhardt, M. J., Holz, F. G., & Priglinger, S. G. (2021) · Klinische Monatsblätter für Augenheilkunde · doi:10.1055/a-1315-1331 · Cited by 2
Giansanti, F., Nicolosi, C., Giorgio, D., Sodi, A., Mucciolo, D. P., Pavese, L., Pollazzi, L., Virgili, G., Vicini, G., Passerini, I., et al. (2024) · Genes · doi:10.3390/genes15070879 · Cited by 2
Retinal Sensitivity in Comparison to Cone Density in Choroideremia
Wynne, N., Jiang, Y. Y., Alemán, T. S., & Morgan, J. I. W. (2024) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.65.14.6 · Cited by 2
Vincent, A., Liang, W., Maguire, M. G., Duncan, J. L., Ayala, A. R., Bernstein, P. S., Carroll, J., Cheetham, J. K., Durham, T. A., Farsiu, S., et al. (2025) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2025.04.034 · Cited by 2
Whole Genome Sequencing in Patients with Retinitis Pigmentosa
Nishiguchi, K. M. (2017) · Essentials in ophthalmology/Essentials ophthalmology · doi:10.1007/978-4-431-56511-6_8 · Cited by 2
Emerging Gene Therapy Treatments for Inherited Retinal Diseases
Bakall, B., Klein, K. A., & Hariprasad, S. M. (2018) · Ophthalmic surgery, lasers & imaging retina · doi:10.3928/23258160-20180628-02 · Cited by 2
A Novel Mutation in the Choroideremia Gene in a Turkish Family
Iftikhar, M., Wolfson, Y., Sodhi, S. K., Usmani, B., Scholl, H. P. N., & Shah, S. M. (2019) · Journal of College of Physicians And Surgeons Pakistan · doi:10.29271/jcpsp.2019.07.677 · Cited by 2
Production and Application of Multicistronic Constructs for Various Human Disease Therapies
Shaimardonova, A. A., Chulpanova, D. S., Kitaeva, K. V., Abdrakhmanova, I. I., Chernov, V. M., Rutland, C. S., Rizvanov, A. A., & Solovyeva, V. V. (2021) · doi:10.1201/9781003180449-9 · Cited by 2
The emergence of gene therapy for rare diseases
Phillips, M. I., & Burns, A. B. (2014) · Expert Opinion on Orphan Drugs · doi:10.1517/21678707.2014.978284 · Cited by 2
[Gene therapy for hereditary ophthalmological diseases: Advances and future perspectives].
Chacon-Camacho, O. F., Astorga-Carballo, A., & Zenteno, J. C. (2015) · PubMed · Cited by 2
Straßer, T., Peters, T. M., Jägle, H., & Zrenner, E. (2017) · Documenta Ophthalmologica · doi:10.1007/s10633-017-9618-6 · Cited by 2
Patrício, M. I., & MacLaren, R. E. (2017) · Methods in molecular biology · doi:10.1007/978-1-4939-7522-8_7 · Cited by 2
Self-citationRetinal Prostheses: Other Therapies and Future Directions
Goureau, O., Monville, C., Chaffiol, A., Gauvain, G., Picaud, S. A., Duebel, J., & Sahel, J. (2017) · Essentials in ophthalmology/Essentials ophthalmology · doi:10.1007/978-3-319-67260-1_7 · Cited by 2
Adeno-Associated Virus Delivery of Viral Serpins for Ocular Diseases: Design and Validation
Ildefonso, C. J., & Lewin, A. S. (2018) · Methods in molecular biology · doi:10.1007/978-1-4939-8645-3_16 · Cited by 2
Genotype-Phenotype Correlation in Retinal Degenerations
Sripriya, S., Mathavan, S., Khetan, V., Natarajan, S., Srinivasan, S., & Raman, R. (2018) · Essentials in ophthalmology/Essentials ophthalmology · doi:10.1007/978-981-13-0884-0_26 · Cited by 2
Virus Vectors for Optogenetic Prosthetization of the Retina
Rotov, A. Y., Nikolaeva, D. A., Astakhova, L. A., & Firsov, M. L. (2020) · Neuroscience and Behavioral Physiology · doi:10.1007/s11055-020-00911-4 · Cited by 2
Venkatesh, R., Reddy, N. G., Snehith, R., Cherry, J. P., Pereira, A., Sridharan, A., Poornachandra, B., Shetty, R., Yadav, N. K., & Chhablani, J. K. (2021) · Eye · doi:10.1038/s41433-021-01441-0 · Cited by 2
Daruich, A., Boinet, R., Falcou, C., Cotteret, C., Magassa, A., Schlatter, J., Escalup, R., Cisternino, S., Valleix, S., Robert, M. P. A., et al. (2021) · Journal Français d Ophtalmologie · doi:10.1016/j.jfo.2020.10.014 · Cited by 2
Stem Cell and Gene Therapy for Inherited Retinal Diseases
DeSouza, P. J., Park, U. C., & Park, S. S. (2022) · Springer eBooks · doi:10.1007/978-981-16-7337-5_3 · Cited by 2
Chapter 3 - Restoring Vision to the Blind: Gene Therapy for Vision Loss
Science, T. L. I. I. F. I. I. V. S. T. L. I. I. F. I. I. V. (2014) · Translational Vision Science & Technology · doi:10.1167/tvst.3.7.5 · Cited by 2
The Role of Ceramide in Inherited Retinal Disease Pathology
Qian, X., Srinivasan, T., He, J., & Chen, R. (2023) · Advances in experimental medicine and biology · doi:10.1007/978-3-031-27681-1_44 · Cited by 2
Diagnóstico etiológico de la sordera infantil: Recomendaciones CODEPEH 2015
Núñez-Batalla, F., Casaubón, C. J., Canet, J. M. S., Allende, A. V., Ugarteche, J. Z., & Farpón, R. C. (2016) · Revista Española de Discapacidad · doi:10.5569/2340-5104.04.01.11 · Cited by 2
Gene Therapy for Dominantly Inherited Retinal Degeneration
Farrar, G. J., Millington‐Ward, S., Palfi, A., Chadderton, N., & Kenna, P. F. (2014) · Essentials in ophthalmology/Essentials ophthalmology · doi:10.1007/978-3-662-45188-5_4 · Cited by 3
Genetics of the Retinal Dystrophies
Merepa, S. S., Broadgate, S., Sekaran, S., & Halford, S. (2018) · Wiley eBooks · doi:10.1002/9780470015902.a0028116 · Cited by 2
Scott, H. A., Larson, A., Rong, S. S., Mehrotra, S., Butcher, R. M., Chao, K. R., Wiggs, J. L., Place, E., Pierce, E. A., & Bujakowska, K. M. (2021) · Molecular Case Studies · doi:10.1101/mcs.a006131 · Cited by 2
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Ramachandran, S., Ardinger, J., Bu, J., Ramos, M., Guo, L., Ghosh, D., Hossain, M., Chou, S.-C., Chen, Y., Wischhof, E., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.03.12.642609 · Cited by 2
Bonneau, S., Kulbay, M., Ali, S. K., & Qian, C. X. (2024) · Ophthalmic Genetics · doi:10.1080/13816810.2024.2357705 · Cited by 1
Bhat, M. A., & Goyal, S. (2025) · Stem Cell Reviews and Reports · doi:10.1007/s12015-025-10927-3 · Cited by 1
Zhou, A., Tsang, S. H., Sharma, T., & Diaconita, V. (2025) · Advances in experimental medicine and biology · doi:10.1007/978-3-031-72230-1_9 · Cited by 1
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Cavaleri, J., Lin, M. P., Wu, K., Gilbert, Z. D., Huang, C. Y., Lo, Y. T., Garimella, V., Dallas, J., Briggs, R. G., Borja, A. J., et al. (2025) · Brain Sciences · doi:10.3390/brainsci15111170 · Cited by 1
Ren, D., Chauveau, G. A., Cabon, E., Vendomèle, J., Vignal‐Clermont, C., Saliba, H., Ail, D., Dalkara, D., & Fisson, S. (2026) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2026.101443 · Cited by 1
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Metadata
- Authors
- 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., Lotery, A. J., Downes, S. M., Webster, A. R., & Seabra, M. C.
- Affiliations
- Moorfields Eye Hospital NHS Foundation Trust (GB)
- University of Oxford (GB)
- NIHR Oxford Biomedical Research Centre (GB)
- Imperial College London (GB)
- Nationwide Children's Hospital (US)
- The Ohio State University Wexner Medical Center (US)
- Radboud University Nijmegen (NL)
- Manchester Academic Health Science Centre (GB)
- University of Southampton (GB)
- ORCID
- Venue
- The Lancet
- Publisher
- Elsevier BV
- Published
- 2014-03
- Volume
- 383
- Issue
- 9923
- Pages
- 1129-1137
- ISSN
- 0099-5355 (ISSN-L)
- 0140-6736
- PMC
- PMC4171740
- OpenAlex
- W2126115955
- Cited by
- 796
- References
- 28
- Citations by year
- 2026: 24 · 2025: 29 · 2024: 46 · 2023: 42 · 2022: 37 · 2021: 62 · 2020: 68 · 2019: 78 · 2018: 85 · 2017: 109 · 2016: 80 · 2015: 83 · 2014: 51
- FWCI
- 44.12
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- The Lancet (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- ePrints Soton (University of Southampton) (acceptedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Research Explorer (The University of Manchester) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Funders
- Wellcome Trust (091984)
- Cancer Research UK (11339)
- National Institute for Health and Care Research (NF-SI-0509-10185)
- 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
- choroideremia, retinal gene therapy, adeno-associated virus vectors, Rab escort protein 1, CHM gene, X-linked retinal degeneration, visual acuity improvement, retinal sensitivity, microperimetry, retinal detachment, vector dose, rod and cone function, retinal pigment epithelium, eccentric fixation, blindness treatment
- MeSH terms
- Adenoviridae, Adult, Aged, Fluorescence, Genetic Vectors, Humans, Male, Middle Aged, Retinal Detachment, Visual Acuity, Genetic Therapy, Choroideremia, Gene Transfer Techniques, Transgenes, Adaptor Proteins, Signal Transducing, Injections, Intraocular
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