1 S Russell, J Bennett, JA Wellman, et al.Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial Lancet, 390 (10097) (2017), pp. 849-860, 10.1016/S0140-6736(17)31868-8

2 F Wang, JQ Chen, XD Sun[Paying attention to the natural course of disease for a development of gene therapy of inherited retinal disease] Chin J Experiment Ophthal, 39 (8) (2021), pp. 665-669, 10.3760/cma.j.cn115989-20201007-00677

3 Centers for Disease Control and PreventionPrinciples of Epidemiology (second ed.), U.S. Department of Health and Human Services (1992)

4 Center for drug evaluation of the national medical Products administration Guidel Clinic Develop Drugs for Rare Dis (2022) https://www.cde.org.cn/main/news/viewInfoCommon/c4e1ef312a0a0c039a7a4ca55b91d4e8, Accessed 24th Mar 2022

5 C Botto, M Rucli, MD Tekinsoy, et al.Early and late stage gene therapy interventions for inherited retinal degenerations Prog Retin Eye Res, 86 (2022), Article 100975, 10.1016/j.preteyeres.2021.100975

6 DC Chung, M Bertelsen, B Lorenz, et al.The natural history of inherited retinal dystrophy due to biallelic mutations in the RPE65 gene Am J Ophthalmol, 199 (2019), pp. 58-70, 10.1016/j.ajo.2018.09.024

7 AT Fahim, Z Bouzia, KH Branham, et al.Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration Br J Ophthalmol, 103 (12) (2019), pp. 1789-1796, 10.1136/bjophthalmol-2018-313580

8 L YangUSH2A gene mutations spectrum in Chinese different from Westerner Chin J Experiment Ophthal, 29 (11) (2011), pp. 961-963 https://doi.org/cma.j.issn.2095-0160.2011.11.001

9 Retnet, the retinal information network http://www.sph.uth.tmc.edu/RetNet/, Accessed 8th Mar 2022

10 U.S. Food and Drug AdministrationRare diseases: natural history studies for drug development guidance for industry https://www.fda.gov/media/122425/download, Accessed 24th Mar 2022

11 Center for drug evaluation of the national medical Products administration, statistical guidelines for clinical studies of drugs for rare diseases https://www.cde.org.cn/main/news/viewInfoCommon/058e0d665b785e79b7f4f24dc1dc970c, Accessed 7th Jun 2022

12 A Iannaccone, O AlekseevChoosing outcome measures and assessing efficacy of therapeutic interventions in inherited retinal diseases: the importance of natural history studies Int Ophthalmol Clin, 61 (4) (2021), pp. 47-61, 10.1097/IIO.0000000000000380

13 KA High, MG RoncaroloGene therapy N Engl J Med, 381 (5) (2019), pp. 455-464, 10.1056/NEJMra1706910