PT - JOURNAL ARTICLE AU - Fujinami, Kaoru AU - Waheed, Nadia AU - Laich, Yannik AU - Yang, Paul AU - Fujinami-Yokokawa, Yu AU - Higgins, Joseph J AU - Lu, Jonathan T AU - Curtiss, Darin AU - Clary, Cathryn AU - Michaelides, Michel TI - Stargardt macular dystrophy and therapeutic approaches AID - 10.1136/bjo-2022-323071 DP - 2024 Apr 01 TA - British Journal of Ophthalmology PG - 495--505 VI - 108 IP - 4 4099 - http://bjo.bmj.com/content/108/4/495.short 4100 - http://bjo.bmj.com/content/108/4/495.full SO - Br J Ophthalmol2024 Apr 01; 108 AB - 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.No data are available.