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Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy
  1. Jasdeep S Gill1,
  2. Michalis Georgiou1,2,
  3. Angelos Kalitzeos1,2,
  4. Anthony T Moore1,3,
  5. Michel Michaelides1,2
  1. 1 UCL Institute of Ophthalmology, University College London, London, UK
  2. 2 Moorfields Eye Hospital NHS Foundation Trust, London, UK
  3. 3 Ophthalmology Department, University of California San Francisco School of Medicine, San Francisco, California, USA
  1. Correspondence to Professor Michel Michaelides, UCL Institute of Ophthalmology, London EC1V 9EL, UK; michel.michaelides{at}ucl.ac.uk

Abstract

Progressive cone and cone-rod dystrophies are a clinically and genetically heterogeneous group of inherited retinal diseases characterised by cone photoreceptor degeneration, which may be followed by subsequent rod photoreceptor loss. These disorders typically present with progressive loss of central vision, colour vision disturbance and photophobia. Considerable progress has been made in elucidating the molecular genetics and genotype–phenotype correlations associated with these dystrophies, with mutations in at least 30 genes implicated in this group of disorders. We discuss the genetics, and clinical, psychophysical, electrophysiological and retinal imaging characteristics of cone and cone-rod dystrophies, focusing particularly on four of the most common disease-associated genes: GUCA1A, PRPH2, ABCA4 and RPGR. Additionally, we briefly review the current management of these disorders and the prospects for novel therapies.

  • dystrophy
  • genetics
  • imaging
  • retina

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: http://creativecommons.org/licenses/by/4.0

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Footnotes

  • Contributors JSG conceived, wrote and provided critical revision of the manuscript. MG, AK and ATM provided critical revision of the manuscript. MM supervised and provided critical revision of the manuscript. Figures were produced by MG and JSG.

  • Funding Supported by grants from the National Institute for Health Research, the Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and the UCL Institute of Ophthalmology, Fight For Sight, Moorfields Eye Hospital Special Trustees, Moorfields Eye Charity, the Wellcome Trust (099173/Z/12/Z), 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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