New advances in diagnostic techniques and gene therapy for choroideremia_Chinese Journal of Ocular Fundus Diseases

Authors：

Yan Jiangbo ,  Shen Yin

Eye Center, Renmin Hospital of Wuhan University, Wuhan 430060, China;

Corresponding author：

Shen Yin, Email: yinshen@whu.edu.cn

Keywords：

Choroideremia; Gene therapy; Clinical trial; Review

DOI：

10.3760/cma.j.cn511434-20220208-00071

Video：

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Abstract Full text Figures/Tables Video References Cited by

Choroideremia (CHM) is an X-linked recessive inherited retinal disease characterized by progressive degeneration of photoreceptors, retinal pigment epithelium and choroid. Clinical manifestations include slowly progressive night blindness and visual field defects, for which there is no effective treatment. The development of fundus examination technology has provided more indicators for clinical diagnosis and follow-up observation, and the emergence of next generation sequencing technology has further improved the diagnostic rate of inherited retinal diseases, gradually deepening the understanding of the pathogenesis and natural history of CHM. Numerous clinical trials of CHM gene therapy have been conducted over a decade, with important advances in vector optimization for gene therapy, treatment time window selection, and management of trial adverse events. In the future, there is a need to deepen the understanding of the natural course of CHM and to adopt personalized treatment and endpoint evaluation targets for the treatment time window. Assessing differences in disease severity and individualizing treatment plans for different stages is more beneficial to prognosis.

Citation： Yan Jiangbo, Shen Yin. New advances in diagnostic techniques and gene therapy for choroideremia. Chinese Journal of Ocular Fundus Diseases, 2023, 39(9): 787-792. doi: 10.3760/cma.j.cn511434-20220208-00071 Copy

1.	Seabra MC, Brown MS, Goldstein JL. Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase[J]. Science, 1993, 259(5093): 377-381. DOI: 10.1126/science.8380507.
2.	Patricio MI, Barnard AR, Xue K, et al. Choroideremia: molecular mechanisms and development of AAV gene therapy[J]. Expert Opin Biol Ther, 2018, 18(7): 807-820. DOI: 10.1080/14712598.2018.1484448.
3.	Furgoch MJ, Mewes-Arès J, Radziwon A, et al. Molecular genetic diagnostic techniques in choroideremia[J]. Mol Vis, 2014, 20: 535-544.
4.	Freund PR, Sergeev YV, Macdonald IM. Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy[J]. Mol Genet Genomic Med, 2016, 4(3): 344-358. DOI: 10.1002/mgg3.208.
5.	Di Iorio V, Esposito G, De Falco F, et al. CHM/REP1 transcript expression and loss of visual function in patients affected by choroideremia[J]. Invest Ophthalmol Vis Sci, 2019, 60(5): 1547-1555. DOI: 10.1167/iovs.18-25501.
6.	Shen LL, Ahluwalia A, Sun M, et al. Long-term natural history of visual acuity in eyes with choroideremia: a systematic review and meta-analysis of data from 1004 individual eyes[J]. Br J Ophthalmol, 2021, 105(2): 271-278. DOI: 10.1136/bjophthalmol-2020-316028.
7.	韩筱煦, 李蕙, 吴世靖, 等. 中国无脉络膜症患者自然病程研究[J]. 中华实验眼科杂志, 2018, 36(7): 519-525. DOI: 10.3760/cma.j.issn.2095-0160.2018.07.007.Han XX, Li H, Wu SJ, et al. Study of natural history of Chinese patients with choroideremia[J]. Chin J Exp Ophthalmol, 2018, 36(7): 519-525. DOI: 10.3760/cma.j.issn.2095-0160.2018.07.007.
8.	Dimopoulos IS, Freund PR, Knowles JA, et al. The natural history of full-field stimulus threshold decline in choroideremia[J]. Retina, 2018, 38(9): 1731-1742. DOI: 10.1097/IAE.0000000000001764.
9.	Simunovic MP, Jolly JK, Xue K, et al. The spectrum of CHM gene mutations in choroideremia and their relationship to clinical phenotype[J]. Invest Ophthalmol Vis Sci, 2016, 57(14): 6033-6039. DOI: 10.1167/iovs.16-20230.
10.	Aleman TS, Han G, Serrano LW, et al. Natural history of the central structural abnormalities in choroideremia: a prospective cross-sectional study[J]. Ophthalmology, 2017, 124(3): 359-373. DOI: 10.1016/j.ophtha.2016.10.022.
11.	睢瑞芳, 姚凤霞. 了解基因检测技术在眼遗传病精准诊疗中的应用[J]. 中华眼底病杂志, 2021, 37(11): 831-835. DOI: 10.3760/cma.j.cn511434-20211027-00608.Sui RF, Yao FX. Understanding the application of genetic testing in practicing precision medicine for inherited ocular disease[J]. Chin J Ocul Fundus Dis, 2021, 37(11): 831-835. DOI: 10.3760/cma.j.cn511434-20211027-00608.
12.	Aylward JW, Xue K, Patricio MI, et al. Retinal degeneration in choroideremia follows an exponential decay function[J]. Ophthalmology, 2018, 125(7): 1122-1124. DOI: 10.1016/j.ophtha.2018.02.004.
13.	Hariri AH, Ip MS, Girach A, et al. Macular spatial distribution of preserved autofluorescence in patients with choroideremia[J]. Br J Ophthalmol, 2019, 103(7): 933-937. DOI: 10.1136/bjophthalmol-2018-312620.
14.	Abbouda A, Avogaro F, Moosajee M, et al. Update on gene therapy clinical trials for choroideremia and potential experimental therapies[J]. Medicina (Kaunas), 2021, 57(1): 64. DOI: 10.3390/medicina57010064.
15.	Zeitz C, Nassisi M, Laurent-Coriat C, et al. CHM mutation spectrum and disease: an update at the time of human therapeutic trials[J]. Hum Mutat, 2021, 42(4): 323-341. DOI: 10.1002/humu.24174.
16.	Xue K, Oldani M, Jolly JK, et al. Correlation of optical coherence tomography and autofluorescence in the outer retina and choroid of patients with choroideremia[J]. Invest Ophthalmol Vis Sci, 2016, 57(8): 3674-3684. DOI: 10.1167/iovs.15-18364.
17.	Birtel J, Salvetti AP, Jolly JK, et al. Near-infrared autofluorescence in choroideremia: anatomic and functional correlations[J]. Am J Ophthalmol, 2019, 199: 19-27. DOI: 10.1016/j.ajo.2018.10.021.
18.	Nabholz N, Lorenzini MC, Bocquet B, et al. Clinical evaluation and cone alterations in choroideremia[J]. Ophthalmology, 2016, 123(8): 1830-1832. DOI: 10.1016/j.ophtha.2016.02.025.
19.	Romano F, Arrigo A, Maclaren RE, et al. Hyperreflective foci as a pathogenetic biomarker in choroideremia[J]. Retina, 2020, 40(8): 1634-1640. DOI: 10.1097/IAE.0000000000002645.
20.	Goldberg NR, Greenberg JP, Laud K, et al. Outer retinal tubulation in degenerative retinal disorders[J]. Retina, 2013, 33(9): 1871-1876. DOI: 10.1097/IAE.0b013e318296b12f.
21.	Van Schuppen SM, Talib M, Bergen AA, et al. Long-term follow-up of patients with choroideremia with scleral pits and tunnels as a novel observation[J]. Retina, 2018, 38(9): 1713-1724. DOI: 10.1097/IAE.0000000000001844.
22.	Harvey CM, Whitmore SS, Critser DB, et al. Scleral pits represent degeneration around the posterior ciliary arteries and are signs of disease severity in choroideremia[J]. Eye (Lond), 2020, 34(4): 746-754. DOI: 10.1038/s41433-019-0599-4.
23.	Battaglia Parodi M, Arrigo A, Maclaren RE, et al. Vascular alterations revealed with optical coherence tomography angiography in patients with choroideremia[J]. Retina, 2019, 39(6): 1200-1205. DOI: 10.1097/IAE.0000000000002118.
24.	Arrigo A, Romano F, Parodi MB, et al. Reduced vessel density in deep capillary plexus correlates with retinal layer thickness in choroideremia[J]. Br J Ophthalmol, 2021, 105(5): 687-693. DOI: 10.1136/bjophthalmol-2020-316528.
25.	Abbouda A, Dubis AM, Webster AR, et al. Identifying characteristic features of the retinal and choroidal vasculature in choroideremia using optical coherence tomography angiography[J]. Eye (Lond), 2018, 32(3): 563-571. DOI: 10.1038/eye.2017.242.
26.	Jain N, Jia Y, Gao SS, et al. Optical coherence tomography angiography in choroideremia: correlating choriocapillaris loss with overlying degeneration[J]. JAMA Ophthalmol, 2016, 134(6): 697-702. DOI: 10.1001/jamaophthalmol.2016.0874.
27.	Ong SS, Patel TP, Singh MS. Optical coherence tomography angiography imaging in inherited retinal diseases[J/OL]. J Clin Med, 2019, 8(12): 2078[2019-11-28]. https://pubmed.ncbi.nlm.nih.gov/31795241/. DOI: 10.3390/jcm8122078.
28.	Ranjan R, Verghese S, Salian R, et al. OCT angiography for the diagnosis and management of choroidal neovascularization secondary to choroideremia[J/OL]. Am J Ophthalmol Case Rep, 2021, 22: 101042[2021-02-25]. https://pubmed.ncbi.nlm.nih.gov/33681533/. DOI: 10.1016/j.ajoc.2021.101042.
29.	Patel RC, Gao SS, Zhang M, et al. Optical coherence tomography angiography of choroidal neovascularization in four inherited retinal dystrophies[J]. Retina, 2016, 36(12): 2339-2347. DOI: 10.1097/IAE.0000000000001159.
30.	Palejwala NV, Lauer AK, Weleber RG. Choroideremia associated with choroidal neovascularization treated with intravitreal Bevacizumab[J]. Clin Ophthalmol, 2014, 8: 1675-1679. DOI: 10.2147/OPTH.S68243.
31.	Cunha DL, Richardson R, Tracey-White D, et al. REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia[J/OL]. JCI Insight, 2021, 6(9): e146934[2021-05-10]. https://pubmed.ncbi.nlm.nih.gov/33755601/. DOI: 10.1172/jci.insight.146934.
32.	Patrício MI, Barnard AR, Cox CI, et al. The biological activity of AAV vectors for choroideremia gene therapy can be measured by in vitro prenylation of RAB6A[J]. Mol Ther Methods Clin Dev, 2018, 9: 288-295. DOI: 10.1016/j.omtm.2018.03.009.
33.	Xue K, Jolly JK, Barnard AR, et al. Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia[J]. Nat Med, 2018, 24(10): 1507-1512. DOI: 10.1038/s41591-018-0185-5.
34.	Fischer MD, Ochakovski GA, Beier B, et al. Changes in retinal sensitivity after gene therapy in choroideremia[J]. Retina, 2020, 40(1): 160-168. DOI: 10.1097/IAE.0000000000002360.
35.	Lam BL, Davis JL, Gregori NZ, et al. Choroideremia gene therapy phase 2 clinical trial: 24-month results[J]. Am J Ophthalmol, 2019, 197: 65-73. DOI: 10.1016/j.ajo.2018.09.012.
36.	Dimopoulos IS, Hoang SC, Radziwon A, et al. Two-year results after AAV2-mediated gene therapy for choroideremia: the alberta experience[J]. Am J Ophthalmol, 2018, 193: 130-142. DOI: 10.1016/j.ajo.2018.06.011.
37.	Patrício MI, Cox CI, Blue C, et al. Inclusion of PF68 surfactant improves stability of rAAV titer when passed through a surgical device used in retinal gene therapy[J]. Mol Ther Methods Clin Dev, 2020, 17: 99-106. DOI: 10.1016/j.omtm.2019.11.005.
38.	Bucher K, Rodriguez-Bocanegra E, Dauletbekov D, et al. Immune responses to retinal gene therapy using adeno-associated viral vectors-implications for treatment success and safety[J/OL]. Prog Retin Eye Res, 2021, 83: 100915[2020-10-15]. https://pubmed.ncbi.nlm.nih.gov/33069860/. DOI: 10.1016/j.preteyeres.2020.100915.
39.	Pennesi ME, Birch DG, Duncan JL, et al. CHOROIDEREMIA: retinal degeneration with an unmet need[J]. Retina, 2019, 39(11): 2059-2069. DOI: 10.1097/IAE.0000000000002553.
40.	Richardson R, Smart M, Tracey-White D, et al. Mechanism and evidence of nonsense suppression therapy for genetic eye disorders[J]. Exp Eye Res, 2017, 155: 24-37. DOI: 10.1016/j.exer.2017.01.001.
41.	Moosajee M, Tracey-White D, Smart M, et al. Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model[J]. Hum Mol Genet, 2016, 25(16): 3416-3431. DOI: 10.1093/hmg/ddw184.
42.	Garanto A, van der Velde-Visser SD, Cremers FPM, et al. Antisense oligonucleotide-based splice correction of a deep-intronic mutation in CHM underlying choroideremia[J]. Adv Exp Med Biol, 2018, 1074: 83-89. DOI: 10.1007/978-3-319-75402-4_11.
43.	Macdonald IM, Moen C, Duncan JL, et al. Perspectives on gene therapy: choroideremia represents a challenging model for the treatment of other inherited retinal degenerations[J]. Transl Vis Sci Technol, 2020, 9(3): 17. DOI: 10.1167/tvst.9.3.17.
44.	Han X, Wu S, Li H, et al. Clinical characteristics and molecular genetic analysis of a cohort of Chinese patients with choroideremia[J]. Retina, 2020, 40(11): 2240-2253. DOI: 10.1097/IAE.0000000000002743.

1. Seabra MC, Brown MS, Goldstein JL. Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase[J]. Science, 1993, 259(5093): 377-381. DOI: 10.1126/science.8380507.
2. Patricio MI, Barnard AR, Xue K, et al. Choroideremia: molecular mechanisms and development of AAV gene therapy[J]. Expert Opin Biol Ther, 2018, 18(7): 807-820. DOI: 10.1080/14712598.2018.1484448.
3. Furgoch MJ, Mewes-Arès J, Radziwon A, et al. Molecular genetic diagnostic techniques in choroideremia[J]. Mol Vis, 2014, 20: 535-544.
4. Freund PR, Sergeev YV, Macdonald IM. Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy[J]. Mol Genet Genomic Med, 2016, 4(3): 344-358. DOI: 10.1002/mgg3.208.
5. Di Iorio V, Esposito G, De Falco F, et al. CHM/REP1 transcript expression and loss of visual function in patients affected by choroideremia[J]. Invest Ophthalmol Vis Sci, 2019, 60(5): 1547-1555. DOI: 10.1167/iovs.18-25501.
6. Shen LL, Ahluwalia A, Sun M, et al. Long-term natural history of visual acuity in eyes with choroideremia: a systematic review and meta-analysis of data from 1004 individual eyes[J]. Br J Ophthalmol, 2021, 105(2): 271-278. DOI: 10.1136/bjophthalmol-2020-316028.
7. 韩筱煦, 李蕙, 吴世靖, 等. 中国无脉络膜症患者自然病程研究[J]. 中华实验眼科杂志, 2018, 36(7): 519-525. DOI: 10.3760/cma.j.issn.2095-0160.2018.07.007.Han XX, Li H, Wu SJ, et al. Study of natural history of Chinese patients with choroideremia[J]. Chin J Exp Ophthalmol, 2018, 36(7): 519-525. DOI: 10.3760/cma.j.issn.2095-0160.2018.07.007.
8. Dimopoulos IS, Freund PR, Knowles JA, et al. The natural history of full-field stimulus threshold decline in choroideremia[J]. Retina, 2018, 38(9): 1731-1742. DOI: 10.1097/IAE.0000000000001764.
9. Simunovic MP, Jolly JK, Xue K, et al. The spectrum of CHM gene mutations in choroideremia and their relationship to clinical phenotype[J]. Invest Ophthalmol Vis Sci, 2016, 57(14): 6033-6039. DOI: 10.1167/iovs.16-20230.
10. Aleman TS, Han G, Serrano LW, et al. Natural history of the central structural abnormalities in choroideremia: a prospective cross-sectional study[J]. Ophthalmology, 2017, 124(3): 359-373. DOI: 10.1016/j.ophtha.2016.10.022.
11. 睢瑞芳, 姚凤霞. 了解基因检测技术在眼遗传病精准诊疗中的应用[J]. 中华眼底病杂志, 2021, 37(11): 831-835. DOI: 10.3760/cma.j.cn511434-20211027-00608.Sui RF, Yao FX. Understanding the application of genetic testing in practicing precision medicine for inherited ocular disease[J]. Chin J Ocul Fundus Dis, 2021, 37(11): 831-835. DOI: 10.3760/cma.j.cn511434-20211027-00608.
12. Aylward JW, Xue K, Patricio MI, et al. Retinal degeneration in choroideremia follows an exponential decay function[J]. Ophthalmology, 2018, 125(7): 1122-1124. DOI: 10.1016/j.ophtha.2018.02.004.
13. Hariri AH, Ip MS, Girach A, et al. Macular spatial distribution of preserved autofluorescence in patients with choroideremia[J]. Br J Ophthalmol, 2019, 103(7): 933-937. DOI: 10.1136/bjophthalmol-2018-312620.
14. Abbouda A, Avogaro F, Moosajee M, et al. Update on gene therapy clinical trials for choroideremia and potential experimental therapies[J]. Medicina (Kaunas), 2021, 57(1): 64. DOI: 10.3390/medicina57010064.
15. Zeitz C, Nassisi M, Laurent-Coriat C, et al. CHM mutation spectrum and disease: an update at the time of human therapeutic trials[J]. Hum Mutat, 2021, 42(4): 323-341. DOI: 10.1002/humu.24174.
16. Xue K, Oldani M, Jolly JK, et al. Correlation of optical coherence tomography and autofluorescence in the outer retina and choroid of patients with choroideremia[J]. Invest Ophthalmol Vis Sci, 2016, 57(8): 3674-3684. DOI: 10.1167/iovs.15-18364.
17. Birtel J, Salvetti AP, Jolly JK, et al. Near-infrared autofluorescence in choroideremia: anatomic and functional correlations[J]. Am J Ophthalmol, 2019, 199: 19-27. DOI: 10.1016/j.ajo.2018.10.021.
18. Nabholz N, Lorenzini MC, Bocquet B, et al. Clinical evaluation and cone alterations in choroideremia[J]. Ophthalmology, 2016, 123(8): 1830-1832. DOI: 10.1016/j.ophtha.2016.02.025.
19. Romano F, Arrigo A, Maclaren RE, et al. Hyperreflective foci as a pathogenetic biomarker in choroideremia[J]. Retina, 2020, 40(8): 1634-1640. DOI: 10.1097/IAE.0000000000002645.
20. Goldberg NR, Greenberg JP, Laud K, et al. Outer retinal tubulation in degenerative retinal disorders[J]. Retina, 2013, 33(9): 1871-1876. DOI: 10.1097/IAE.0b013e318296b12f.
21. Van Schuppen SM, Talib M, Bergen AA, et al. Long-term follow-up of patients with choroideremia with scleral pits and tunnels as a novel observation[J]. Retina, 2018, 38(9): 1713-1724. DOI: 10.1097/IAE.0000000000001844.
22. Harvey CM, Whitmore SS, Critser DB, et al. Scleral pits represent degeneration around the posterior ciliary arteries and are signs of disease severity in choroideremia[J]. Eye (Lond), 2020, 34(4): 746-754. DOI: 10.1038/s41433-019-0599-4.
23. Battaglia Parodi M, Arrigo A, Maclaren RE, et al. Vascular alterations revealed with optical coherence tomography angiography in patients with choroideremia[J]. Retina, 2019, 39(6): 1200-1205. DOI: 10.1097/IAE.0000000000002118.
24. Arrigo A, Romano F, Parodi MB, et al. Reduced vessel density in deep capillary plexus correlates with retinal layer thickness in choroideremia[J]. Br J Ophthalmol, 2021, 105(5): 687-693. DOI: 10.1136/bjophthalmol-2020-316528.
25. Abbouda A, Dubis AM, Webster AR, et al. Identifying characteristic features of the retinal and choroidal vasculature in choroideremia using optical coherence tomography angiography[J]. Eye (Lond), 2018, 32(3): 563-571. DOI: 10.1038/eye.2017.242.
26. Jain N, Jia Y, Gao SS, et al. Optical coherence tomography angiography in choroideremia: correlating choriocapillaris loss with overlying degeneration[J]. JAMA Ophthalmol, 2016, 134(6): 697-702. DOI: 10.1001/jamaophthalmol.2016.0874.
27. Ong SS, Patel TP, Singh MS. Optical coherence tomography angiography imaging in inherited retinal diseases[J/OL]. J Clin Med, 2019, 8(12): 2078[2019-11-28]. https://pubmed.ncbi.nlm.nih.gov/31795241/. DOI: 10.3390/jcm8122078.
28. Ranjan R, Verghese S, Salian R, et al. OCT angiography for the diagnosis and management of choroidal neovascularization secondary to choroideremia[J/OL]. Am J Ophthalmol Case Rep, 2021, 22: 101042[2021-02-25]. https://pubmed.ncbi.nlm.nih.gov/33681533/. DOI: 10.1016/j.ajoc.2021.101042.
29. Patel RC, Gao SS, Zhang M, et al. Optical coherence tomography angiography of choroidal neovascularization in four inherited retinal dystrophies[J]. Retina, 2016, 36(12): 2339-2347. DOI: 10.1097/IAE.0000000000001159.
30. Palejwala NV, Lauer AK, Weleber RG. Choroideremia associated with choroidal neovascularization treated with intravitreal Bevacizumab[J]. Clin Ophthalmol, 2014, 8: 1675-1679. DOI: 10.2147/OPTH.S68243.
31. Cunha DL, Richardson R, Tracey-White D, et al. REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia[J/OL]. JCI Insight, 2021, 6(9): e146934[2021-05-10]. https://pubmed.ncbi.nlm.nih.gov/33755601/. DOI: 10.1172/jci.insight.146934.
32. Patrício MI, Barnard AR, Cox CI, et al. The biological activity of AAV vectors for choroideremia gene therapy can be measured by in vitro prenylation of RAB6A[J]. Mol Ther Methods Clin Dev, 2018, 9: 288-295. DOI: 10.1016/j.omtm.2018.03.009.
33. Xue K, Jolly JK, Barnard AR, et al. Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia[J]. Nat Med, 2018, 24(10): 1507-1512. DOI: 10.1038/s41591-018-0185-5.
34. Fischer MD, Ochakovski GA, Beier B, et al. Changes in retinal sensitivity after gene therapy in choroideremia[J]. Retina, 2020, 40(1): 160-168. DOI: 10.1097/IAE.0000000000002360.
35. Lam BL, Davis JL, Gregori NZ, et al. Choroideremia gene therapy phase 2 clinical trial: 24-month results[J]. Am J Ophthalmol, 2019, 197: 65-73. DOI: 10.1016/j.ajo.2018.09.012.
36. Dimopoulos IS, Hoang SC, Radziwon A, et al. Two-year results after AAV2-mediated gene therapy for choroideremia: the alberta experience[J]. Am J Ophthalmol, 2018, 193: 130-142. DOI: 10.1016/j.ajo.2018.06.011.
37. Patrício MI, Cox CI, Blue C, et al. Inclusion of PF68 surfactant improves stability of rAAV titer when passed through a surgical device used in retinal gene therapy[J]. Mol Ther Methods Clin Dev, 2020, 17: 99-106. DOI: 10.1016/j.omtm.2019.11.005.
38. Bucher K, Rodriguez-Bocanegra E, Dauletbekov D, et al. Immune responses to retinal gene therapy using adeno-associated viral vectors-implications for treatment success and safety[J/OL]. Prog Retin Eye Res, 2021, 83: 100915[2020-10-15]. https://pubmed.ncbi.nlm.nih.gov/33069860/. DOI: 10.1016/j.preteyeres.2020.100915.
39. Pennesi ME, Birch DG, Duncan JL, et al. CHOROIDEREMIA: retinal degeneration with an unmet need[J]. Retina, 2019, 39(11): 2059-2069. DOI: 10.1097/IAE.0000000000002553.
40. Richardson R, Smart M, Tracey-White D, et al. Mechanism and evidence of nonsense suppression therapy for genetic eye disorders[J]. Exp Eye Res, 2017, 155: 24-37. DOI: 10.1016/j.exer.2017.01.001.
41. Moosajee M, Tracey-White D, Smart M, et al. Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model[J]. Hum Mol Genet, 2016, 25(16): 3416-3431. DOI: 10.1093/hmg/ddw184.
42. Garanto A, van der Velde-Visser SD, Cremers FPM, et al. Antisense oligonucleotide-based splice correction of a deep-intronic mutation in CHM underlying choroideremia[J]. Adv Exp Med Biol, 2018, 1074: 83-89. DOI: 10.1007/978-3-319-75402-4_11.
43. Macdonald IM, Moen C, Duncan JL, et al. Perspectives on gene therapy: choroideremia represents a challenging model for the treatment of other inherited retinal degenerations[J]. Transl Vis Sci Technol, 2020, 9(3): 17. DOI: 10.1167/tvst.9.3.17.
44. Han X, Wu S, Li H, et al. Clinical characteristics and molecular genetic analysis of a cohort of Chinese patients with choroideremia[J]. Retina, 2020, 40(11): 2240-2253. DOI: 10.1097/IAE.0000000000002743.

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