State-of-the-art gene therapy for inherited retinal disorders
DOI: 10.32364/2311-7729-2024-24-1-8
O.I. Orenburkina1, A.E. Babushkin2
1Russian Center for Eye and Plastic Surgery of the Bashkir State Medical University, Ufa, Russian Federation
2Ufa Research Institute of Eye Diseases of the Bashkir State Medical University, Ufa, Russian Federation
Inherited retinal diseases (IRDs), which are orphan diseases, are a relevant social issue due to severe visual impairment and disability in children and working-age individuals. More than 100 IRDs caused by various defects in about 270 genes are known. Molecular genetic diagnostics is essential for identifying a specific hereditary factor of the disease. One of them is the RPE65 protein that is most highly expressed in the retinal pigment epithelium. Gene replacement therapy (GRT) with single subretinal administration of voretigene neparvovec has already been developed for hereditary retinal dystrophies caused by established biallelic mutations in the RPE65 gene, i.e., Leber congenital amaurosis 2 and retinitis pigmentosa 20. Studies (including domestic ones) have demonstrated a positive effect of this drug, particularly in children. The results of GRT for other neurological disorders have been obtained mostly in experimental studies. However, there are reasons to speak about the prospects of its future implementation in clinical practice.
Keywords: inherited retinal diseases, hereditary retinal dystrophies, retinitis pigmentosa, Leber congenital amaurosis, gene replacement therapy, voretigene neparvovec.
For citation: Orenburkina O.I., Babushkin A.E. State-of-the-art gene therapy for inherited retinal disorders. Russian Journal of Clinical Ophthalmology. 2024;24(1):41–45 (in Russ.). DOI: 10.32364/2311-7729-2024-24-1-8.
About the authors:
Olga I. Orenburkina — Dr. Sc. (Med.), Director, Russian Center for Eye and Plastic Surgery of the Bashkir State Medical University; 67/1, Zorge str., Ufa, 450075, Russian Federation; ORCID iD 0000-0001-6815-8208.
Alexandr E. Babushkin — Dr. Sc. (Med.), Head of the Division of Scientific Researches, Ufa Research Institute of Eye Diseases of the Bashkir State Medical University; 90, Pushkin str. / 14, Avrora str., Ufa, 450008, Russian Federation; ORCID iD 0000-0001-6700-0812.
Contact information: Olga I. Orenburkina, e-mail: linza7@yandex.ru.
Financial Disclosure: no authors have a financial or property interest in any material or method mentioned.
There is no conflict of interest.
Received 28.09.2023.
Revised 23.10.2023.
Accepted 16.11.2023.
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6. Кадышев В.В., Гинтер Е.К., Куцев С.И. и др. Эпидемиология наследственных болезней органа зрения в популяциях. РМЖ. Клиническая офтальмология. 2022;22(2):69–79. DOI: 10.32364/2311-7729-2022-22-2-69-79. [Kadyshev V.V., Ginter E.K., Kutsev S.I. et al. Epidemiology of hereditary eye disease in the populations of Russian Federation. Russian Journal of Clinical Ophthalmology. 2022;22(2):69–79 (in Russ.)]. DOI: 10.32364/2311-7729-2022-22-2-69-79.
7. Maguire A.M., Simonelli F., Pierce E.A. et al. Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med. 2008;358(21):2240–2248. DOI: 10.1056/NEJMoa0802315.
8. Berson E.L., Rosner B., Sandberg M.A. et al. Clinical trial of lutein in patients with retinitis pigmentosa receiving vitamin A. Arch Ophthalmol. 2010;128(4):403–411. DOI: 10.1001/archophthalmol.2010.32.
9. Schwartz S.G., Wang X.., Chavis P. et al. Vitamin A and fish oils for preventing the progression of retinitis pigmentosa. Cochrane Database Syst Rev. 2020;186;(6):CD008428. DOI: 10.1002/14651858.
10. Den Hollander A.I., Roepman R., Koenekoop R.K., Cremers F.P.M. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res. 2008;27(4):391–419. DOI: 10.1016/j.preteyeres.2008.05.003.
11. Tsang S.H., Sharma T. Leber Congenital Amaurosis. Adv Exp Med Biol. 2018;1085:131–137. DOI: 10.1007/978-3-319-95046-4_26.
12. Leroy B.P., Birch D.G., Duncan J.L. еt al. Leber congenital amaurosis due to CEP290 mutations-severe vision impairment with a high unmet medical need: A Review. Retina. 2021;41(5):898–907. DOI: 10.1097/IAE.0000000000003133.
13. Rotenstreich Y., Fishman G.A., Anderson R.J. Visual acuity loss and clinical observations in a large series of patients with Stargardt disease. Ophthalmology. 2003;110(6):1151–1158. DOI: 10.1016/S0161-6420(03)00333-6.
14. Зольникова И.В., Рогатина Е.В. Дистрофия Штаргардта: клиника, диагностика, лечение. Клиницист. 2010;1:29–33. [Zolnikova I.V., Rogatina E.V. Stargardt's dystrophy: clinical picture, diagnosis, treatment. Klinitsist. 2010;1:29–33 (in Russ.)].
15. Abalem M.F., Otte B., Andrews C. et al. Peripheral Visual Fields in ABCA4 Stargardt Disease and Correlation With Disease Extent on Ultra-widefield Fundus Autofluorescence. Am J Ophthalmol. 2017;184:181–188. DOI: 10.1016/j.ajo.2017.10.006.
16. Schulz H.L., Grassmann F., Kellner U. et al. Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variantsand Common SNPs. Invest Ophthal Vis Sci. 2017;58(1):394–403. DOI: 10.1167/iovs.16-19936.
17. Cicinelli M.V., Battista M., Starace V. et al. Monitoring and Management of the Patient with Stargardt Disease. Clin Optom (Auckl). 2019;11:151–165. DOI: 10.2147/OPTO.S226595.
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