RT Journal Article
SR Electronic
T1 Stargardt macular dystrophy and therapeutic approaches
JF British Journal of Ophthalmology
JO Br J Ophthalmol
FD BMJ Publishing Group Ltd.
SP 495
OP 505
DO 10.1136/bjo-2022-323071
VO 108
IS 4
A1 Fujinami, Kaoru
A1 Waheed, Nadia
A1 Laich, Yannik
A1 Yang, Paul
A1 Fujinami-Yokokawa, Yu
A1 Higgins, Joseph J
A1 Lu, Jonathan T
A1 Curtiss, Darin
A1 Clary, Cathryn
A1 Michaelides, Michel
YR 2024
UL http://bjo.bmj.com/content/108/4/495.abstract
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.