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Review
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

This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/4.0/

https://doi.org/10.1136/bjophthalmol-2016-308823

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    Footnotes

    • Contributors PT, RWS and KF contributed substantially to the conception and design of the work, drafted the work, approved the final version to be published and agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. MM contributed substantially to the conception and design of the work, revised critically the work, approved the final version to be published and agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

    • Funding This work was supported by grants from the National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital National Health Service Foundation Trust and UCL Institute of Ophthalmology, Fight For Sight (UK), The Macular Society (UK), Moorfields Eye Hospital Special Trustees, Moorfields Eye Charity, The Wellcome Trust (099173/Z/12/Z), the Foundation Fighting Blindness (USA) and Retinitis Pigmentosa Fighting Blindness. Professor Michel Michaelides is a recipient of an FFB Career Development Award. Dr Rupert Strauss is supported by the Austrian Science Fund (FWF; Project number: J 3383-B23) and the Foundation Fighting Blindness Clinical Research Institute (USA). KF is supported by an FFB Clinical Research Fellowship Program Award, Grant-in-Aid for Young Scientists (A), The Ministry of Education, Culture, Sports, Science and Technology (Japan), and National Hospital Organization Network Research Fund (Japan).

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.