title: Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options.
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.
authors.affiliation: UCL Institute of Ophthalmology, University College London, London, UK.|Moorfields Eye Hospital, London, UK.
authors.forename: Preena
authors.initials: P
authors.lastname: Tanna
authors.affiliation: UCL Institute of Ophthalmology, University College London, London, UK.|Moorfields Eye Hospital, London, UK.|Departments of Ophthalmology, Medical University Graz and Johannes Kepler University, Linz, Austria.
authors.forename: Rupert W
authors.initials: RW
authors.lastname: Strauss
authors.affiliation: UCL Institute of Ophthalmology, University College London, London, UK.|Moorfields Eye Hospital, London, UK.|National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Centre, Tokyo, Japan.
authors.forename: Kaoru
authors.initials: K
authors.lastname: Fujinami
authors.affiliation: UCL Institute of Ophthalmology, University College London, London, UK.|Moorfields Eye Hospital, London, UK.
authors.forename: Michel
authors.initials: M
authors.lastname: Michaelides
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000818:Animals; D004195:Disease Models, Animal; D004596:Electroretinography; D005260:Female; D015316:Genetic Therapy / Q000379:methods; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000151:congenital* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology / Q000628:therapy; D008967:Molecular Biology; D009154:Mutation; D010641:Phenotype; D000080362:Stargardt Disease
chemical_list: C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters
keywords: Dystrophy; Imaging; Retina