Stargardt macular dystrophy and therapeutic approaches
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...
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| Veröffentlicht in: | British journal of ophthalmology 2023-11, Vol.108 (4), p.495-505 |
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| creator | Fujinami, Kaoru Waheed, Nadia Laich, Yannik Yang, Paul Fujinami-Yokokawa, Yu Higgins, Joseph J Lu, Jonathan T Curtiss, Darin Clary, Cathryn Michaelides, Michel |
| description | 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. |
| doi_str_mv | 10.1136/bjo-2022-323071 |
| format | Article |
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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.</description><identifier>ISSN: 0007-1161</identifier><identifier>ISSN: 1468-2079</identifier><identifier>EISSN: 1468-2079</identifier><identifier>DOI: 10.1136/bjo-2022-323071</identifier><identifier>PMID: 37940365</identifier><language>eng</language><publisher>BMA House, Tavistock Square, London, WC1H 9JR: BMJ Publishing Group Ltd</publisher><subject>ATP-Binding Cassette Transporters - genetics ; Electrophysiology ; Eye diseases ; Genetic disorders ; Genetics ; Genotype ; Genotype & phenotype ; Humans ; Imaging ; Macular Degeneration - diagnosis ; Macular Degeneration - genetics ; Macular Degeneration - therapy ; Medical imaging ; Medical research ; Mutation ; Pathogenesis ; Pathology ; Phenotype ; Photoreceptors ; Precision medicine ; Proteins ; Retina ; Review ; Stargardt Disease ; Treatment other</subject><ispartof>British journal of ophthalmology, 2023-11, Vol.108 (4), p.495-505</ispartof><rights>Author(s) (or their employer(s)) 2024. 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Published by BMJ. https://creativecommons.org/licenses/by/4.0/ 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/ . 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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.</abstract><cop>BMA House, Tavistock Square, London, WC1H 9JR</cop><pub>BMJ Publishing Group Ltd</pub><pmid>37940365</pmid><doi>10.1136/bjo-2022-323071</doi><tpages>11</tpages><orcidid>https://orcid.org/0000-0003-0634-7593</orcidid><orcidid>https://orcid.org/0000-0002-8229-7519</orcidid><orcidid>https://orcid.org/0000-0003-4248-0033</orcidid><orcidid>https://orcid.org/0000-0001-7555-5797</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | ATP-Binding Cassette Transporters - genetics Electrophysiology Eye diseases Genetic disorders Genetics Genotype Genotype & phenotype Humans Imaging Macular Degeneration - diagnosis Macular Degeneration - genetics Macular Degeneration - therapy Medical imaging Medical research Mutation Pathogenesis Pathology Phenotype Photoreceptors Precision medicine Proteins Retina Review Stargardt Disease Treatment other |
| title | Stargardt macular dystrophy and therapeutic approaches |
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