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Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options
  1. Najiha Rahman1,
  2. Michalis Georgiou1,2,
  3. Kamron N Khan3,
  4. Michel Michaelides1,2
  1. 1Moorfields Eye Hospital, London, UK
  2. 2Institute of Ophthalmology, UCL, London, UK
  3. 3Ophthalmology Department, St James’s University Hospital, Leeds, UK
  1. Correspondence to Michel Michaelides, Moorfields Eye Hospital, London EC1V 9EL, UK; michel.michaelides{at}ucl.ac.uk

Abstract

Macular dystrophies (MDs) consist of a heterogeneous group of disorders that are characterised by bilateral symmetrical central visual loss. Advances in genetic testing over the last decade have led to improved knowledge of the underlying molecular basis. The developments in high-resolution multimodal retinal imaging have also transformed our ability to make accurate and more timely diagnoses and more sensitive quantitative assessment of disease progression, and allowed the design of optimised clinical trial endpoints for novel therapeutic interventions. The aim of this review was to provide an update on MDs, including Stargardt disease, Best disease, X-linked r etinoschisis, pattern dystrophy, Sorsby fundus dystrophy and autosomal dominant drusen. It highlights the range of innovations in retinal imaging, genotype–phenotype and structure–function associations, animal models of disease and the multiple treatment strategies that are currently in clinical trial or planned in the near future, which are anticipated to lead to significant changes in the management of patients with MDs.

  • macular dystrophy
  • retina
  • Stargardt disease
  • ABCA4
  • STGD
  • Best disease
  • BEST1
  • X-linked retinoschisis
  • XLRS
  • RS1
  • autosomal dominant drusen
  • ADD
  • EFEMP1
  • Sorsby fundus dystrophy
  • TIMP3
  • pattern dystrophy
  • PRPH2
  • gene therapy
  • pharmacological therapy
  • stem cells

This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.

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Footnotes

  • NR and MG are joint first authors.

  • Contributors NR and MG revised the literature and drafted the manuscript. KNK and MM conceived, supervised and revised the manuscript. All authors provided critical revision of the manuscript.

  • Funding This study was supported by grants from the National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, Macular Society (UK), Fight for Sight (UK), Onassis Foundation, Leventis Foundation, The Wellcome Trust (099173/Z/12/Z), Moorfields Eye Hospital Special Trustees, Moorfields Eye Charity, Retina UK and the Foundation Fighting Blindness (USA).

  • Competing interests None declared.

  • Patient consent for publication Not required.

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

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