Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options.
review · Level V
Where this comes from
- Record sourced from PubMed, PMID 27491360.
- Also identified by DOI 10.1136/bjophthalmol-2016-308823 and PMC identifier 5256119.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
Stargardt disease (STGD1; MIM 248200) is the most prevalent inherited macular dystrophy and is associated with disease-causing sequence variants in the gene ABCA4 Significant advances have been made over the last 10 years in our understanding of both the clinical and molecular features of STGD1, and also the underlying pathophysiology, which has culminated in ongoing and planned human clinical trials of novel therapies. The aims of this review are to describe the detailed phenotypic and genotypic characteristics of the disease, conventional and novel imaging findings, current knowledge of animal models and pathogenesis, and the multiple avenues of intervention being explored.
Medical subject headings
- Macular Degeneration