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Inherited causes of combined vision and hearing loss: clinical features and molecular genetics
  1. Thales Antonio Cabral de Guimaraes1,2,
  2. Elizabeth Arram1,2,
  3. Ahmed F Shakarchi3,
  4. Michalis Georgiou1,2,3,
  5. Michel Michaelides1,2
  1. 1Moorfields Eye Hospital NHS Foundation Trust, London, UK
  2. 2UCL Institute of Ophthalmology, University College London, London, UK
  3. 3Jones Eye Institute, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA
  1. Correspondence to Michel Michaelides, Moorfields Eye Hospital NHS Foundation Trust, London, UK; michel.michaelides{at}ucl.ac.uk

Abstract

Combined vision and hearing loss, also known as dual sensory impairment, can occur in several genetic conditions, including ciliopathies such as Usher and Bardet-Biedl syndrome, mitochondrial DNA disorders and systemic diseases, such as CHARGE, Stickler, Waardenburg, Alport and Alstrom syndrome. The retinal phenotype may point to the diagnosis of such disorders. Herein, we aim to provide a comprehensive review of the molecular genetics and clinical features of the most common non-chromosomal inherited disorders to cause dual sensory impairment.

  • dystrophy
  • genetics
  • retina
  • macula
  • imaging

Data availability statement

Data sharing not applicable as no datasets generated and/or analysed for this study.

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Data availability statement

Data sharing not applicable as no datasets generated and/or analysed for this study.

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Footnotes

  • Twitter @tacguimaraes

  • Contributors TACdG, EA, AFS and MG reviewed the literature, drafted the manuscript and provided critical revision. MM conceived, supervised and revised the manuscript.

  • Funding Supported by grants from The Wellcome Trust (099173/Z/12/Z).

  • Competing interests None declared.

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