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Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options
  1. Preena Tanna1,2,
  2. Rupert W Strauss1,2,3,
  3. Kaoru Fujinami1,2,4,
  4. Michel Michaelides1,2
  1. 1UCL Institute of Ophthalmology, University College London, London, UK
  2. 2Moorfields Eye Hospital, London, UK
  3. 3Departments of Ophthalmology, Medical University Graz and Johannes Kepler University, Linz, Austria
  4. 4National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Centre, Tokyo, Japan
  1. Correspondence to Michel Michaelides, UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK; michel.michaelides{at}ucl.ac.uk

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.

  • Dystrophy
  • Imaging
  • Retina

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