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Stargardt macular dystrophy and therapeutic approaches

Fujinami, Kaoru; Waheed, Nadia; Laich, Yannik; Yang, Paul; Fujinami-Yokokawa, Yu; Higgins, Joseph J; Lu, Jonathan T; ... Michaelides, Michel; + view all (2023) Stargardt macular dystrophy and therapeutic approaches. British Journal of Ophthalmology bjo-2022. 10.1136/bjo-2022-323071. (In press). Green open access

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Abstract

Stargardt macular dystrophy (Stargardt disease; STGD1; OMIM 248200) is the most prevalent inherited macular dystrophy. STGD1 is an autosomal recessive disorder caused by multiple pathogenic sequence variants in the large ABCA4 gene (OMIM 601691). Major advances in understanding both the clinical and molecular features, as well as the underlying pathophysiology, have culminated in many completed, ongoing and planned human clinical trials of novel therapies.The aims of this concise review are to describe (1) the detailed phenotypic and genotypic characteristics of the disease, multimodal imaging findings, natural history of the disease, and pathogenesis, (2) the multiple avenues of research and therapeutic intervention, including pharmacological, cellular therapies and diverse types of genetic therapies that have either been investigated or are under investigation and (3) the exciting novel therapeutic approaches on the translational horizon that aim to treat STGD1 by replacing the entire 6.8 kb ABCA4 open reading frame.

Type: Article
Title: Stargardt macular dystrophy and therapeutic approaches
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1136/bjo-2022-323071
Publisher version: http://dx.doi.org/10.1136/bjo-2022-323071
Language: English
Additional information: This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.
Keywords: Electrophysiology, Genetics, Imaging, Retina, Treatment other
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/10181453
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