Bibliometric analysis of gene therapy for retinitis pigmentosa in recent 20 years_Chinese Journal of Ocular Fundus Diseases

Authors：

Shi Xiaomeng ¹ , Zhang Yu ¹ , Liu Yan ¹ , Luo Shiping ¹ ,  Lei Bo ^1,2

1. Henan Provincial People’s Hospital, Henan Eye Hospital, Zhengzhou 450003, China;
2. Eye Institute, Henan Academy of Medical Science, Zhengzhou 451163, China;

Corresponding author：

Lei Bo, Email: bolei99@126.com

Keywords：

Retinitis pigmentosa; Gene therapy; Hot spot analysis; Bibliometrics

DOI：

10.3760/cma.j.cn511434-20240929-00367

Video：

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Objective To investigate the current status of research in gene therapy for retinitis pigmentosa (RP) from 2005 to 2024. Methods The literature related to gene therapy for RP included in the Web of Science Core Collection dataset from January 1, 2005 to September 15, 2024 was retrieved and screened. The bibliometrix package of R software was used to analyze the annual trend of the number of publications, citation frequency, distribution of countries/regions of the literature, and distribution of journals containing the articles. CiteSpace software was used to perform keyword clustering analysis and the keywords bursts analysis. Results A total of 209 articles were included. There was an overall fluctuating upward trend of annual publications from 2005 to 2024, with the highest number of publications in 2023 at 26 (12.4%, 26/209), and the lowest number of publications in 2006 at 2 (0.9%, 2/209). There was an overall increasing trend in the frequency of citations to relevant literature. Corresponding authors from the United States had the highest total number of publications with 98 (46.9%, 98/209). Among authors, Hauswirth from the University of Florida, USA, had the most with 25 (12.0%, 25/209). Among institutions, Columbia University, USA, had the most with 55 (26.3%, 55/209). Among journals, Mol Ther had the most with 25 (12.0%, 25/209), and it had the highest 2023 impact factor of 12.1. Keyword clustering analysis yielded eight valid clusters, namely #0 P23H, #1 AAV, #2 PDE6B, #3 CRB1, #4 RPGR, #5 antisense oligonucleotide, #6 NR2E3, and #7 NRL, which intersected with each other with good continuity. The keywords bursts analysis showed that the keyword with the longest emergence time was RNAi, followed by PDE and PDE6. USH2A, CRB1, CRISPR Cas9, base editing, and ORF15 were keywords that emerged in recent years and were continuously studied. Conclusions RP gene therapy research literature has shown an increasing trend from 2005 to 2024, with the highest number of publications from research organizations and scholars in the United States. Currently, studies focus on RHO, PDE6B, CRB1, RPGR, NR2E3, and NRL gene. In recent years, there has been a gradual increase in studies on USH2A, CRB1 genes, and the RPGR ORF15 region. CRISPR Cas9 and base editing gene therapy strategies are being developed.

1.	Verbakel SK, van Huet R, Boon C, et al. Non-syndromic retinitis pigmentosa[J]. Prog Retin Eye Res, 2018, 66: 157-186. DOI: 10.1016/j.preteyeres.2018.03.005.
2.	Narayan DS, Wood JP, Chidlow G, et al. A review of the mechanisms of cone degeneration in retinitis pigmentosa[J]. Acta Ophthalmol, 2016, 94(8): 748-754. DOI: 10.1111/aos.13141.
3.	Vingolo EM, Mascolo S, Miccichè F, et al. Retinitis pigmentosa: from pathomolecular mechanisms to therapeutic strategies[J/OL]. Medicina (Kaunas), 2024, 60(1): 189[2024-01-22]. https://pubmed.ncbi.nlm.nih.gov/38276069/. DOI: 10.3390/medicina60010189.
4.	Bakondi B, Lv W, Lu B, et al. In vivo CRISPR/Cas9 gene editing corrects retinal dystrophy in the S334ter-3 rat model of autosomal dominant retinitis pigmentosa[J]. Mol Ther, 2016, 24(3): 556-563. DOI: 10.1038/mt.2015.220.
5.	Beltran WA, Cideciyan AV, Lewin AS, et al. Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa[J]. Proc Natl Acad Sci USA, 2012, 109(6): 2132-2137. DOI: 10.1073/pnas.1118847109.
6.	Cehajic-Kapetanovic J, Xue K, Martinez-Fernandez de la Camara C, et al. Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR[J]. Nat Med, 2020, 26(3): 354-359. DOI: 10.1038/s41591-020-0763-1.
7.	Yu W, Mookherjee S, Chaitankar V, et al. Nrl knockdown by AAV-delivered CRISPR/Cas9 prevents retinal degeneration in mice[J/OL]. Nat Commun, 2017, 8: 14716[2017-04-14]. https://pubmed.ncbi.nlm.nih.gov/28291770/. DOI: 10.1038/ncomms14716.
8.	Ghazi NG, Abboud EB, Nowilaty SR, et al. Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial[J]. Hum Genet, 2016, 135(3): 327-343. DOI: 10.1007/s00439-016-1637-y.
9.	Deng WL, Gao ML, Lei XL, et al. Gene correction reverses ciliopathy and photoreceptor loss in iPSC-derived retinal organoids from retinitis pigmentosa patients[J]. Stem Cell Reports, 2018, 10(4): 1267-1281. DOI: 10.1016/j.stemcr.2018.02.003.
10.	O'Reilly M, Palfi A, Chadderton N, et al. RNA interference-mediated suppression and replacement of human rhodopsin in vivo[J]. Am J Hum Genet, 2007, 81(1): 127-135. DOI: 10.1086/519025.
11.	Macé E, Caplette R, Marre O, et al. Targeting channelrhodopsin-2 to ON-bipolar cells with vitreally administered AAV restores ON and OFF visual responses in blind mice[J]. Mol Ther, 2015, 23(1): 7-16. DOI: 10.1038/mt.2014.154.
12.	Pang JJ, Dai X, Boye SE, et al. Long-term retinal function and structure rescue using capsid mutant AAV8 vector in the rd10 mouse, a model of recessive retinitis pigmentosa[J]. Mol Ther, 2011, 19(2): 234-242. DOI: 10.1038/mt.2010.273.
13.	Millington-Ward S, Chadderton N, O'Reilly M, et al. Suppression and replacement gene therapy for autosomal dominant disease in a murine model of dominant retinitis pigmentosa[J]. Mol Ther, 2011, 19(4): 642-649. DOI: 10.1038/mt.2010.293.
14.	Confalonieri F, La Rosa A, Ottonelli G, et al. Retinitis pigmentosa and therapeutic approaches: a systematic review[J/OL]. J Clin Med, 2024, 13(16): 4680[2024-08-09]. https://pubmed.ncbi.nlm.nih.gov/39200821/. DOI: 10.3390/jcm13164680.
15.	Cross N, van Steen C, Zegaoui Y, et al. Current and future treatment of retinitis pigmentosa[J]. Clin Ophthalmol, 2022, 16: 2909-2921. DOI: 10.2147/OPTH.S370032.
16.	Lewin AS, Smith WC. Gene therapy for rhodopsin mutations[J/OL]. Cold Spring Harb Perspect Med, 2022, 12(9): a041283[2022-08-08]. https://pubmed.ncbi.nlm.nih.gov/35940643/. DOI: 10.1101/cshperspect.a041283.
17.	Han J, Dinculescu A, Dai X, et al. Review: the history and role of naturally occurring mouse models with Pde6b mutations[J]. Mol Vis, 2013, 19: 2579-2589.
18.	Pellissier LP, Quinn PM, Alves CH, et al. Gene therapy into photoreceptors and Müller glial cells restores retinal structure and function in CRB1 retinitis pigmentosa mouse models[J]. Hum Mol Genet, 2015, 24(11): 3104-3118. DOI: 10.1093/hmg/ddv062.
19.	Boon N, Lu X, Andriessen CA, et al. AAV-mediated gene augmentation therapy of CRB1 patient-derived retinal organoids restores the histological and transcriptional retinal phenotype[J]. Stem Cell Reports, 2023, 18(5): 1123-1137. DOI: 10.1016/j.stemcr.2023.03.014.
20.	Bellingrath JS, McClements ME, Shanks M, et al. Envisioning the development of a CRISPR-Cas mediated base editing strategy for a patient with a novel pathogenic CRB1 single nucleotide variant[J]. Ophthalmic Genet, 2022, 43(5): 661-670. DOI: 10.1080/13816810.2022.2073599.
21.	Lopes da Costa B, Kolesnikova M, Levi SR, et al. Clinical and therapeutic evaluation of the ten most prevalent CRB1 mutations[J/OL]. Biomedicines, 2023, 11(2): 385[2023-01-27]. https://pubmed.ncbi.nlm.nih.gov/36830922/. DOI: 10.3390/biomedicines11020385.
22.	Wongchaisuwat N, Amato A, Lamborn AE, et al. Retinitis pigmentosa GTPase regulator-related retinopathy and gene therapy[J]. Saudi J Ophthalmol, 2023, 37(4): 276-286. DOI: 10.4103/sjopt.sjopt_168_23.
23.	Moore SM, Skowronska-Krawczyk D, Chao DL. Targeting of the NRL pathway as a therapeutic strategy to treat retinitis pigmentosa[J/OL]. J Clin Med, 2020, 9(7): 2224[2020-07-13]. https://pubmed.ncbi.nlm.nih.gov/32668775/. DOI: 10.3390/jcm9072224.
24.	Schellens R, Broekman S, Peters T, et al. A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping for USH2A-associated retinitis pigmentosa[J]. Mol Ther Nucleic Acids, 2023, 32: 980-994. DOI: 10.1016/j.omtn.2023.05.020.
25.	Toms M, Toualbi L, Almeida PV, et al. Successful large gene augmentation of USH2A with non-viral episomal vectors[J]. Mol Ther, 2023, 31(9): 2755-2766. DOI: 10.1016/j.ymthe.2023.06.012.
26.	Sanjurjo-Soriano C, Erkilic N, Baux D, et al. Genome editing in patient iPSCs corrects the most prevalent USH2A mutations and reveals intriguing mutant mRNA expression profiles[J]. Mol Ther Methods Clin Dev, 2020, 17: 156-173. DOI: 10.1016/j.omtm.2019.11.016.
27.	Simunovic MP, Shen W, Lin JY, et al. Optogenetic approaches to vision restoration[J]. Exp Eye Res, 2019, 178: 15-26. DOI: 10.1016/j.exer.2018.09.003.
28.	Piri N, Grodsky JD, Kaplan HJ. Gene therapy for retinitis pigmentosa[J]. Taiwan J Ophthalmol, 2021, 11(4): 348-351. DOI: 10.4103/tjo.tjo_47_21.
29.	Peng YQ, Tang LS, Yoshida S, et al. Applications of CRISPR/Cas9 in retinal degenerative diseases[J]. Int J Ophthalmol, 2017, 10(4): 646-651. DOI: 10.18240/ijo.2017.04.23.
30.	孙玺皓, 唐仕波, 陈建苏. CRISPR/Cas9基因编辑技术在遗传性视网膜疾病中的应用[J]. 中华实验眼科杂志, 2023, 41(9): 925-930. DOI: 10.3760/cma.j.cn115989-20201120-00787.Sun XH, Tang SB, Chen JS. Application of CRISPR/Cas9 genome editing technology in hereditary retinal diseases[J]. Chin J Exp Ophthalmol, 2023, 41(9): 925-930. DOI: 10.3760/cma.j.cn115989-20201120-00787.
31.	Su J, She K, Song L, et al. In vivo base editing rescues photoreceptors in a mouse model of retinitis pigmentosa[J]. Mol Ther Nucleic Acids, 2023, 31: 596-609. DOI: 10.1016/j.omtn.2023.02.011.
32.	Wu Y, Wan X, Zhao D, et al. AAV-mediated base-editing therapy ameliorates the disease phenotypes in a mouse model of retinitis pigmentosa[J/OL]. Nat Commun, 2023, 14(1): 4923[2023-08-15]. https://pubmed.ncbi.nlm.nih.gov/37582961/. DOI: 10.1038/s41467-023-40655-6.
33.	李五一, 睢瑞芳. 反义寡核苷酸技术在遗传性视网膜变性治疗中的应用[J]. 中华实验眼科杂志, 2022, 40(1): 67-72. DOI: 10.3760/cma.j.cn115989-20210128-00074.Li WY, Sui RF. Application of antisense oligonucleotide in the treatment of inherited retinal dystrophy[J]. Chin J Exp Ophthalmol, 2022, 40(1): 67-72. DOI: 10.3760/cma.j.cn115989-20210128-00074.
34.	Justin GA, Girach A, Maldonado RS. Antisense oligonucleotide therapy for proline- 23-histidine autosomal dominant retinitis pigmentosa[J]. Curr Opin Ophthalmol, 2023, 34(3): 226-231. DOI: 10.1097/ICU.0000000000000947.
35.	Dulla K, Slijkerman R, van Diepen HC, et al. Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations[J]. Mol Ther, 2021, 29(8): 2441-2455. DOI: 10.1016/j.ymthe.2021.04.024.
36.	Leroy BP, Fischer MD, Flannery JG, et al. Gene therapy for inherited retinal disease: long-term durability of effect[J]. Ophthalmic Res, 2023, 66(1): 179-196. DOI: 10.1159/000526317.
37.	Hinderer C, Katz N, Buza EL, et al. Severe toxicity in nonhuman primates and piglets following high-dose intravenous administration of an adeno-associated virus vector expressing human SMN[J]. Hum Gene Ther, 2018, 29(3): 285-298. DOI: 10.1089/hum.2018.015.
38.	Philippidis A. Fourth boy dies in clinical trial of Astellas' AT132[J]. Hum Gene Ther, 2021, 32(19-20): 1008-1010. DOI: 10.1089/hum.2021.29182.bfs.
39.	陈姝颖, 傅秋黎, 姚克. 纳米材料应用于眼科治疗的研究进展[J]. 中华眼科杂志, 2022, 58(10): 831-838. DOI: 10.3760/cma.j.cn112142-20220130-00043.Chen SY, Fu QL, Yao K. Advances of nanomaterials applied in ophthalmic treatment[J]. Chin J Ophthalmol, 2022, 58(10): 831-838. DOI: 10.3760/cma.j.cn112142-20220130-00043.
40.	汪枫桦, 陈洁琼, 孙晓东. 重视自然病程研究, 科学开展遗传性视网膜疾病的基因治疗[J]. 中华实验眼科杂志, 2021, 39(8): 665-669. DOI: 10.3760/cma.j.cn115989-20201007-00677.Wang FH, Chen JQ, Sun XD. Paying attention to the natural course of disease for a development of gene therapy of inherited retinal diseases[J]. Chin J Exp Ophthalmol, 2021, 39(8): 665-669. DOI: 10.3760/cma.j.cn115989-20201007-00677.

1. Verbakel SK, van Huet R, Boon C, et al. Non-syndromic retinitis pigmentosa[J]. Prog Retin Eye Res, 2018, 66: 157-186. DOI: 10.1016/j.preteyeres.2018.03.005.
2. Narayan DS, Wood JP, Chidlow G, et al. A review of the mechanisms of cone degeneration in retinitis pigmentosa[J]. Acta Ophthalmol, 2016, 94(8): 748-754. DOI: 10.1111/aos.13141.
3. Vingolo EM, Mascolo S, Miccichè F, et al. Retinitis pigmentosa: from pathomolecular mechanisms to therapeutic strategies[J/OL]. Medicina (Kaunas), 2024, 60(1): 189[2024-01-22]. https://pubmed.ncbi.nlm.nih.gov/38276069/. DOI: 10.3390/medicina60010189.
4. Bakondi B, Lv W, Lu B, et al. In vivo CRISPR/Cas9 gene editing corrects retinal dystrophy in the S334ter-3 rat model of autosomal dominant retinitis pigmentosa[J]. Mol Ther, 2016, 24(3): 556-563. DOI: 10.1038/mt.2015.220.
5. Beltran WA, Cideciyan AV, Lewin AS, et al. Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa[J]. Proc Natl Acad Sci USA, 2012, 109(6): 2132-2137. DOI: 10.1073/pnas.1118847109.
6. Cehajic-Kapetanovic J, Xue K, Martinez-Fernandez de la Camara C, et al. Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR[J]. Nat Med, 2020, 26(3): 354-359. DOI: 10.1038/s41591-020-0763-1.
7. Yu W, Mookherjee S, Chaitankar V, et al. Nrl knockdown by AAV-delivered CRISPR/Cas9 prevents retinal degeneration in mice[J/OL]. Nat Commun, 2017, 8: 14716[2017-04-14]. https://pubmed.ncbi.nlm.nih.gov/28291770/. DOI: 10.1038/ncomms14716.
8. Ghazi NG, Abboud EB, Nowilaty SR, et al. Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial[J]. Hum Genet, 2016, 135(3): 327-343. DOI: 10.1007/s00439-016-1637-y.
9. Deng WL, Gao ML, Lei XL, et al. Gene correction reverses ciliopathy and photoreceptor loss in iPSC-derived retinal organoids from retinitis pigmentosa patients[J]. Stem Cell Reports, 2018, 10(4): 1267-1281. DOI: 10.1016/j.stemcr.2018.02.003.
10. O'Reilly M, Palfi A, Chadderton N, et al. RNA interference-mediated suppression and replacement of human rhodopsin in vivo[J]. Am J Hum Genet, 2007, 81(1): 127-135. DOI: 10.1086/519025.
11. Macé E, Caplette R, Marre O, et al. Targeting channelrhodopsin-2 to ON-bipolar cells with vitreally administered AAV restores ON and OFF visual responses in blind mice[J]. Mol Ther, 2015, 23(1): 7-16. DOI: 10.1038/mt.2014.154.
12. Pang JJ, Dai X, Boye SE, et al. Long-term retinal function and structure rescue using capsid mutant AAV8 vector in the rd10 mouse, a model of recessive retinitis pigmentosa[J]. Mol Ther, 2011, 19(2): 234-242. DOI: 10.1038/mt.2010.273.
13. Millington-Ward S, Chadderton N, O'Reilly M, et al. Suppression and replacement gene therapy for autosomal dominant disease in a murine model of dominant retinitis pigmentosa[J]. Mol Ther, 2011, 19(4): 642-649. DOI: 10.1038/mt.2010.293.
14. Confalonieri F, La Rosa A, Ottonelli G, et al. Retinitis pigmentosa and therapeutic approaches: a systematic review[J/OL]. J Clin Med, 2024, 13(16): 4680[2024-08-09]. https://pubmed.ncbi.nlm.nih.gov/39200821/. DOI: 10.3390/jcm13164680.
15. Cross N, van Steen C, Zegaoui Y, et al. Current and future treatment of retinitis pigmentosa[J]. Clin Ophthalmol, 2022, 16: 2909-2921. DOI: 10.2147/OPTH.S370032.
16. Lewin AS, Smith WC. Gene therapy for rhodopsin mutations[J/OL]. Cold Spring Harb Perspect Med, 2022, 12(9): a041283[2022-08-08]. https://pubmed.ncbi.nlm.nih.gov/35940643/. DOI: 10.1101/cshperspect.a041283.
17. Han J, Dinculescu A, Dai X, et al. Review: the history and role of naturally occurring mouse models with Pde6b mutations[J]. Mol Vis, 2013, 19: 2579-2589.
18. Pellissier LP, Quinn PM, Alves CH, et al. Gene therapy into photoreceptors and Müller glial cells restores retinal structure and function in CRB1 retinitis pigmentosa mouse models[J]. Hum Mol Genet, 2015, 24(11): 3104-3118. DOI: 10.1093/hmg/ddv062.
19. Boon N, Lu X, Andriessen CA, et al. AAV-mediated gene augmentation therapy of CRB1 patient-derived retinal organoids restores the histological and transcriptional retinal phenotype[J]. Stem Cell Reports, 2023, 18(5): 1123-1137. DOI: 10.1016/j.stemcr.2023.03.014.
20. Bellingrath JS, McClements ME, Shanks M, et al. Envisioning the development of a CRISPR-Cas mediated base editing strategy for a patient with a novel pathogenic CRB1 single nucleotide variant[J]. Ophthalmic Genet, 2022, 43(5): 661-670. DOI: 10.1080/13816810.2022.2073599.
21. Lopes da Costa B, Kolesnikova M, Levi SR, et al. Clinical and therapeutic evaluation of the ten most prevalent CRB1 mutations[J/OL]. Biomedicines, 2023, 11(2): 385[2023-01-27]. https://pubmed.ncbi.nlm.nih.gov/36830922/. DOI: 10.3390/biomedicines11020385.
22. Wongchaisuwat N, Amato A, Lamborn AE, et al. Retinitis pigmentosa GTPase regulator-related retinopathy and gene therapy[J]. Saudi J Ophthalmol, 2023, 37(4): 276-286. DOI: 10.4103/sjopt.sjopt_168_23.
23. Moore SM, Skowronska-Krawczyk D, Chao DL. Targeting of the NRL pathway as a therapeutic strategy to treat retinitis pigmentosa[J/OL]. J Clin Med, 2020, 9(7): 2224[2020-07-13]. https://pubmed.ncbi.nlm.nih.gov/32668775/. DOI: 10.3390/jcm9072224.
24. Schellens R, Broekman S, Peters T, et al. A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping for USH2A-associated retinitis pigmentosa[J]. Mol Ther Nucleic Acids, 2023, 32: 980-994. DOI: 10.1016/j.omtn.2023.05.020.
25. Toms M, Toualbi L, Almeida PV, et al. Successful large gene augmentation of USH2A with non-viral episomal vectors[J]. Mol Ther, 2023, 31(9): 2755-2766. DOI: 10.1016/j.ymthe.2023.06.012.
26. Sanjurjo-Soriano C, Erkilic N, Baux D, et al. Genome editing in patient iPSCs corrects the most prevalent USH2A mutations and reveals intriguing mutant mRNA expression profiles[J]. Mol Ther Methods Clin Dev, 2020, 17: 156-173. DOI: 10.1016/j.omtm.2019.11.016.
27. Simunovic MP, Shen W, Lin JY, et al. Optogenetic approaches to vision restoration[J]. Exp Eye Res, 2019, 178: 15-26. DOI: 10.1016/j.exer.2018.09.003.
28. Piri N, Grodsky JD, Kaplan HJ. Gene therapy for retinitis pigmentosa[J]. Taiwan J Ophthalmol, 2021, 11(4): 348-351. DOI: 10.4103/tjo.tjo_47_21.
29. Peng YQ, Tang LS, Yoshida S, et al. Applications of CRISPR/Cas9 in retinal degenerative diseases[J]. Int J Ophthalmol, 2017, 10(4): 646-651. DOI: 10.18240/ijo.2017.04.23.
30. 孙玺皓, 唐仕波, 陈建苏. CRISPR/Cas9基因编辑技术在遗传性视网膜疾病中的应用[J]. 中华实验眼科杂志, 2023, 41(9): 925-930. DOI: 10.3760/cma.j.cn115989-20201120-00787.Sun XH, Tang SB, Chen JS. Application of CRISPR/Cas9 genome editing technology in hereditary retinal diseases[J]. Chin J Exp Ophthalmol, 2023, 41(9): 925-930. DOI: 10.3760/cma.j.cn115989-20201120-00787.
31. Su J, She K, Song L, et al. In vivo base editing rescues photoreceptors in a mouse model of retinitis pigmentosa[J]. Mol Ther Nucleic Acids, 2023, 31: 596-609. DOI: 10.1016/j.omtn.2023.02.011.
32. Wu Y, Wan X, Zhao D, et al. AAV-mediated base-editing therapy ameliorates the disease phenotypes in a mouse model of retinitis pigmentosa[J/OL]. Nat Commun, 2023, 14(1): 4923[2023-08-15]. https://pubmed.ncbi.nlm.nih.gov/37582961/. DOI: 10.1038/s41467-023-40655-6.
33. 李五一, 睢瑞芳. 反义寡核苷酸技术在遗传性视网膜变性治疗中的应用[J]. 中华实验眼科杂志, 2022, 40(1): 67-72. DOI: 10.3760/cma.j.cn115989-20210128-00074.Li WY, Sui RF. Application of antisense oligonucleotide in the treatment of inherited retinal dystrophy[J]. Chin J Exp Ophthalmol, 2022, 40(1): 67-72. DOI: 10.3760/cma.j.cn115989-20210128-00074.
34. Justin GA, Girach A, Maldonado RS. Antisense oligonucleotide therapy for proline- 23-histidine autosomal dominant retinitis pigmentosa[J]. Curr Opin Ophthalmol, 2023, 34(3): 226-231. DOI: 10.1097/ICU.0000000000000947.
35. Dulla K, Slijkerman R, van Diepen HC, et al. Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations[J]. Mol Ther, 2021, 29(8): 2441-2455. DOI: 10.1016/j.ymthe.2021.04.024.
36. Leroy BP, Fischer MD, Flannery JG, et al. Gene therapy for inherited retinal disease: long-term durability of effect[J]. Ophthalmic Res, 2023, 66(1): 179-196. DOI: 10.1159/000526317.
37. Hinderer C, Katz N, Buza EL, et al. Severe toxicity in nonhuman primates and piglets following high-dose intravenous administration of an adeno-associated virus vector expressing human SMN[J]. Hum Gene Ther, 2018, 29(3): 285-298. DOI: 10.1089/hum.2018.015.
38. Philippidis A. Fourth boy dies in clinical trial of Astellas' AT132[J]. Hum Gene Ther, 2021, 32(19-20): 1008-1010. DOI: 10.1089/hum.2021.29182.bfs.
39. 陈姝颖, 傅秋黎, 姚克. 纳米材料应用于眼科治疗的研究进展[J]. 中华眼科杂志, 2022, 58(10): 831-838. DOI: 10.3760/cma.j.cn112142-20220130-00043.Chen SY, Fu QL, Yao K. Advances of nanomaterials applied in ophthalmic treatment[J]. Chin J Ophthalmol, 2022, 58(10): 831-838. DOI: 10.3760/cma.j.cn112142-20220130-00043.
40. 汪枫桦, 陈洁琼, 孙晓东. 重视自然病程研究, 科学开展遗传性视网膜疾病的基因治疗[J]. 中华实验眼科杂志, 2021, 39(8): 665-669. DOI: 10.3760/cma.j.cn115989-20201007-00677.Wang FH, Chen JQ, Sun XD. Paying attention to the natural course of disease for a development of gene therapy of inherited retinal diseases[J]. Chin J Exp Ophthalmol, 2021, 39(8): 665-669. DOI: 10.3760/cma.j.cn115989-20201007-00677.

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