References

ophthalmology

Офтальмология

Ophthalmology in Russia

1816-50952500-0845

Ophthalmology

10.18008/1816-5095-2026-3-512-520

ophthalmology-3055

Research Article

ОБЗОРЫ

REVIEWS

Современные генетические технологии для терапии синдрома Штаргардта. Часть 1. Невирусные методы доставки терапевтических конструкций

Modern Genetic Technologies for the Treatment of Stargardt Syndrome. Part 1. Non-viral Methods OF Delivery of Therapeutic Constructs

https://orcid.org/0009-0001-7517-4924

Бровин

А. Н.

Brovin

A. N.

Бровин Андрей Николаевич, специалист–исследователь направления «Генная терапия»

Олимпийский проспект, 1, федеральная территория «Сириус», Краснодарский край, 354340

Brovin Andrew N., researcher

Olimpiyskiy ave., 1, Sirius Federal Territory, Krasnodar Region 354349

https://orcid.org/0009-0001-0690-9640

Сабанцев

М. О.

Sabantsev

M. O.

Сабанцев Матвей Олегович, магистрант направления «Молекулярная медицина»

Олимпийский проспект, 1, федеральная территория «Сириус», Краснодарский край, 354340

Sabantsev Matvey O., master student

Olimpiyskiy ave., 1, Sirius Federal Territory, Krasnodar Region 354349

https://orcid.org/0000-0002-1423-6562

Игнатьева

Е. В.

Ignatieva

E. V.

Игнатьева Елена Владимировна, кандидат биологических наук, старший научный сотрудник направления «Генная терапия»

Олимпийский проспект, 1, федеральная территория «Сириус», Краснодарский край, 354340

Ignatieva Еlena V., PhD in Biology, senior researcher

Olimpiyskiy ave., 1, Sirius Federal Territory, Krasnodar Region 354349

https://orcid.org/0009-0000-0835-8355

Байбарин

К. А.

Baibarin

K. А.

Байбарин Кирилл Александрович, кандидат медицинских наук, директор по развитию

проезд Дмитровский, 6, корп. 1, Москва, 127422

Baibarin Кirill А., PhD, development director

Dmitrovsky travel, 6, p. 1, Moscow, 127422

https://orcid.org/0000-0002-6391-5182

Карабельский

А. В.

Karabelsky

A. V.

Карабельский Александр Владимирович, кандидат биологических наук, научный руководитель направления «Генная терапия»

Олимпийский проспект, 1, федеральная территория «Сириус», Краснодарский край, 354340

Karabelsky Alexander V., PhD in Biology, director

Olimpiyskiy ave., 1, Sirius Federal Territory, Krasnodar Region 354349

АНОО ВО «Научно-технологический университет “Сириус”»РоссияGene Therapy Department, Research Center for Translational Medicine, Sirius University of Science and TechnologyRussian Federation

Межрегиональная общественная организация содействия и помощи больным с наследственными заболеваниями сетчатки «Чтобы видеть!»РоссияInterregional public organization for assistance and support to patients with hereditary retinal diseases “LookToSee!”Russian Federation

2026

05102026

233512520

2026

Бровин А.Н., Сабанцев М.О., Игнатьева Е.В., Байбарин К.А., Карабельский А.В.

Brovin A.N., Sabantsev M.O., Ignatieva E.V., Baibarin K.А., Karabelsky A.V.

Данная работа распространяется под лицензией Creative Commons Attribution 4.0.

This work is licensed under a Creative Commons Attribution 4.0 License.

https://www.ophthalmojournal.com/opht/article/view/3055

Болезнь Штаргардта (STGD1) является наиболее распространенной наследственной макулярной дистрофией. Это аутосомно- рецессивное заболевание, вызываемое патогенными вариантами гена ABCA4, который кодирует трансмембранный белок се- мейства АТР-связывающих кассетных транспортеров, локализованный в наружных сегментах фоторецепторов и необходимый для рециркуляции ретиналя — основной части зрительного пигмента родопсина. Дисфункция транспортера ABCA4 приводит к накоплению токсичных производных витамина А в клетках пигментного эпителия сетчатки с последующей дегенерацией фото- рецепторов. В последние годы фундаментальные и трансляционные исследования молекулярной патофизиологии наследствен- ных заболеваний сетчатки, в том числе болезни Штаргардта, значительно углубили понимание их механизмов, что стимулиро- вало активное развитие новых терапевтических стратегий. Целью данного обзора является описание современных подходов, направленных на коррекцию генетического дефекта в STGD1, а также анализ их преимуществ и ограничений с точки зрения возможного использования в клинической практике. В первой части обзора рассматриваются последние достижения в области применения малых молекул, а также невирусные технологии генной терапии в контексте лечения болезни Штаргардта.

Stargardt disease (STGD1) is the most common type of inherited macular degeneration. It is an autosomal recessive disorder caused by pathogenic variants in the ABCA4 gene, which encodes a transmembrane protein of the ATP-binding cassette transporter. This protein is located in the outer segments of photoreceptors and is essential for retinal recycling. Dysfunction of the ABCA4 transporter leads to the accumulation of toxic vitamin A metabolites in retinal pigment epithelial cells and subsequent photoreceptor degeneration. Recently, fundamental and translational studies on the molecular pathophysiology of inherited retinal diseases, including Stargardt disease, have significantly improved the understanding of their mechanisms, leading to the stimulation and development of new thera- peutic strategies. The purpose of this review is to describe current approaches aimed at correcting the genetic defect in STGD1 and to analyze their advantages and limitations in terms of potential clinical use. The first part of the review examines non-viral gene therapy technologies as applied to the treatment of Stargardt disease.

синдром Штаргардтамалые молекулыгенная терапиягеномное редактированиеантисмысловые олигонуклеотиды

Stargardt syndromesmall moleculesgene therapygenome editingantisense oligonucleotides

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The authors declare that there are no conflicts of interest present.