Journal article
Stargardt disease and progress in therapeutic strategies
Ophthalmic Genetics, pp.ahead-of-print
2021
Abstract
Background: Stargardt disease (STGD1) is an autosomal recessive retinal dystrophy due to mutations in ABCA4, characterized by subretinal deposition of lipofuscin-like substances and bilateral centrifugal vision loss. Despite the tremendous progress made in the understanding of STGD1, there are no approved treatments to date. This review examines the challenges in the development of an effective STGD1 therapy.
Materials and Methods: A literature review was performed through to June 2021 summarizing the spectrum of retinal phenotypes in STGD1, the molecular biology of ABCA4 protein, the in vivo and in vitro models used to investigate the mechanisms of ABCA4 mutations and current clinical trials.Results: STGD1 phenotypic variability remains an challenge for clinical trial design and patient selection. Pre-clinical development of therapeutic options has been limited by the lack of animal models reflecting the diverse phenotypic spectrum of STDG1. Patient-derived cell lines have facilitated the characterization of splice mutations but the clinical presentation is not always predicted by the effect of specific mutations on retinoid metabolism in cellular models. Current therapies primarily aim to delay vision loss whilst strategies to restore vision are less well developed.
Conclusions: STGD1 therapy development can be accelerated by a deeper understanding of genotype-phenotype correlations.
Details
- Title
- Stargardt disease and progress in therapeutic strategies
- Authors/Creators
- D. Huang (Author/Creator) - Perron Institute for Neurological and Translational ScienceR.C. Heath Jeffery (Author/Creator)M.T. Aung-Htut (Author/Creator) - Perron Institute for Neurological and Translational ScienceS. McLenachan (Author/Creator) - Lions Eye InstituteS. Fletcher (Author/Creator) - Perron Institute for Neurological and Translational ScienceS.D. Wilton (Author/Creator) - Perron Institute for Neurological and Translational ScienceF.K. Chen (Author/Creator) - Lions Eye Institute
- Publication Details
- Ophthalmic Genetics, pp.ahead-of-print
- Publisher
- Taylor & Francis
- Identifiers
- 991005543789607891
- Copyright
- © 2021 The Authors.
- Murdoch Affiliation
- Centre for Molecular Medicine and Innovative Therapeutics
- Language
- English
- Resource Type
- Journal article
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- Collaboration types
- Domestic collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.36 Ophthalmology
- 1.36.212 Genetic Retinopathies
- Web Of Science research areas
- Genetics & Heredity
- Ophthalmology
- ESI research areas
- Clinical Medicine