The progress in treatment of type 1 of Stargardt disease_Chinese Journal of Ocular Fundus Diseases

Authors：

Wang Dandan , Gao Fengjuan , Zhang Shenghai , Chang Qing , Xu Gezhi ,  Wu Jihong

Eye Institute, Eye & ENT Hospital of Fudan University, Shanghai 200031, China;

Corresponding author：

Wu Jihong, Email: jihongwu@fudan.edu.cn

Keywords：

Abca4 gene; Stargardt disease; Drug therapy; Gene therapy; Stem cell transplantation; Review

DOI：

10.3760/cma.j.cn511434-20200518-00224

Video：

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Stargardt disease (STGD) is one of the most prevalent inherited macular dystrophy, and most often occurs in child or adolescence. Irreversible vision loss is observed in almost all cases. Type 1 (STGD1) is one of the most common type. It is an autosomal recessive condition, caused by mutations in the Abca4 gene. In recent years, encouraging progress has been made in the treatment of STGD1. C20-D3-retinyl acetate (ALK-001), fenretinide and ICR-14967 (A1120) as visual cycle modulators, StarGen as gene supplementation therapies, and the stem cell transplantation of human embryonic stem cell-derived retinal pigment epithelium cells are the most promising therapies. With the development of studies and clinical trials, the clinical application of various treatments of STGD1 are expected in the near feature, which are expected to save the vision of most patients.

Citation： Wang Dandan, Gao Fengjuan, Zhang Shenghai, Chang Qing, Xu Gezhi, Wu Jihong. The progress in treatment of type 1 of Stargardt disease. Chinese Journal of Ocular Fundus Diseases, 2021, 37(7): 567-572. doi: 10.3760/cma.j.cn511434-20200518-00224 Copy

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1. Fujinami K, Lois N, Davidson AE, et al. A longitudinal study of Stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations[J]. Am J Ophthalmol, 2013, 155(6): 1075-1088. DOI: 10.1016/j.ajo.2013.01.018.
2. Burke TR, Tsang SH. Allelic and phenotypic heterogeneity in ABCA4 mutations[J]. Ophthalmic Genet, 2011, 32(3): 165-174. DOI: 10.3109/13816810.2011.565397.
3. Strauss RW, Ho A, Munoz B, et al. The natural history of the progression of atrophy secondary to Stargardt disease (ProgStar) studies: design and baseline characteristics: ProgStar Report No. 1[J]. Ophthalmology, 2016, 123(4): 817-828. DOI: 10.1016/j.ophtha.2015.12.009.
4. Haji Abdollahi S, Hirose T. Stargardt-Fundus flavimaculatus: recent advancements and treatment[J]. Semin Ophthalmol, 2013, 28(5-6): 372-376. DOI: 10.3109/08820538.2013.825286.
5. 何颖, 戴旭锋, 张华, 等. Stargardt病基因治疗研究现状与进展[J]. 中华眼底病杂志, 2016, 32(2): 224-227. DOI: 10.3760/cma.j.issn.1005-1015.2016.02.029.He Y, Dai XF, Zhang H, et al. The status and progress in gene therapy study of Stargardt disease[J]. Chin J Ocul Fundus Dis, 2016, 32(2): 224-227. DOI: 10.3760/cma.j.issn.1005-1015.2016.02.029.
6. Rotenstreich Y, Fishman GA, Anderson RJ. Visual acuity loss and clinical observations in a large series of patients with Stargardt disease[J]. Ophthalmology, 2003, 110(6): 1151-1158. DOI: 10.1016/S0161-6420(03)00333-6.
7. Fujinami K, Zernant J, Chana RK, et al. Clinical and molecular characteristics of childhood-onset Stargardt disease[J]. Ophthalmology, 2015, 122(2): 326-334. DOI: 10.1016/j.ophtha.2014.08.012.
8. Nasonkin I, Illing M, Koehler MR, et al. Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease[J]. Hum Genet, 1998, 102(1): 21-26. DOI: 10.1007/s004390050649.
9. Tsybovsky Y, Molday RS, Palczewski K. The ATP-binding cassette transporter ABCA4: structural and functional properties and role in retinal disease[J]. Adv Exp Med Biol, 2010, 703: 105-125. DOI: 10.1007/978-1-4419-5635-4_8.
10. Koenekoop RK. The gene for Stargardt disease, ABCA4, is a major retinal gene: a mini-review[J]. Ophthalmic Genet, 2003, 24(2): 75-80. DOI: 10.1076/opge.24.2.75.13996.
11. 方艳文, 张勇进. Stargardt病的病因及治疗展望[J]. 国外医学(眼科学分册), 2003, 27(5): 306-309. DOI: 10.3760/cma.j.issn.1673-5803.2003.05.013.Fang YW, Zhang YJ. The etiology and treatment progress of Stargardt disease[J]. Section Ophthalmol Foreign Med Sci, 2003, 27(5): 306-309. DOI: 10.3760/cma.j.issn.1673-5803.2003.05.013.
12. Charbel IP, Barnard AR, Herrmann P, et al. Rescue of the Stargardt phenotype in Abca4 knockout mice through inhibition of vitamin A dimerization[J]. Proc Natl Acad Sci USA, 2015, 112(27): 8415-8420. DOI: 10.1073/pnas.1506960112.
13. Lu LJ, Liu J, Adelman RA. Novel therapeutics for Stargardt disease[J]. Graefe's Arch Clin Exp Ophthalmol, 2017, 255(6): 1057-1062. DOI: 10.1007/s00417-017-3619-8.
14. Ma L, Kaufman Y, Zhang J, et al. C20-D3-vitamin A slows lipofuscin accumulation and electrophysiological retinal degeneration in a mouse model of Stargardt disease[J]. J Biol Chem, 2011, 286(10): 7966-7974. DOI: 10.1074/jbc.M110.178657.
15. Mata NL, Lichter JB, Vogel R, et al. Investigation of oral fenretinide for treatment of geographic atrophy in age-related macular degeneration[J]. Retina, 2013, 33(3): 498-507. DOI: 10.1097/IAE.0b013e318265801d.
16. Radu RA, Han Y, Bui TV, et al. Reductions in serum vitamin A arrest accumulation of toxic retinal fluorophores: a potential therapy for treatment of lipofuscin-based retinal diseases[J]. Invest Ophthalmol Vis Sci, 2005, 46(12): 4393-4401. DOI: 10.1167/iovs.05-0820.
17. Camerini T, Mariani L, De Palo G, et al. Safety of the synthetic retinoid fenretinide: long-term results from a controlled clinical trial for the prevention of contralateral breast cancer[J]. J Clin Oncol, 2001, 19(6): 1664-1670. DOI: 10.1200/JCO.2001.19.6.1664.
18. Costa A, Malone W, Perloff M, et al. Tolerability of the synthetic retinoid fenretinide (HPR)[J]. Eur J Cancer Clin Oncol, 1989, 25(5): 805-808. DOI: 10.1016/0277-5379(89)90124-7.
19. Baglietto L, Torrisi R, Arena G, et al. Ocular effects of fenretinide, a vitamin A analog, in a chemoprevention trial of bladder cancer[J]. Cancer Detect Prev, 2000, 24(4): 369-375.
20. Dobri N, Qin Q, Kong J, et al. A1120, a nonretinoid RBP4 antagonist, inhibits formation of cytotoxic bisretinoids in the animal model of enhanced retinal lipofuscinogenesis[J]. Invest Ophthalmol Vis Sci, 2013, 54(1): 85-95. DOI: 10.1167/iovs.12-10050.
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Chinese Journal of Ocular Fundus Diseases

The progress in treatment of type 1 of Stargardt disease

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