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Review
Inherited cataracts: molecular genetics, clinical features, disease mechanisms and novel therapeutic approaches
  1. Vanita Berry1,
  2. Michalis Georgiou1,2,
  3. Kaoru Fujinami1,3,
  4. Roy Quinlan1,4,
  5. Anthony Moore2,5,
  6. Michel Michaelides1,2
  1. 1 Department of Genetics, UCL Institute of Ophthalmology, University College London, London, UK
  2. 2 Moorfields Eye Hospital NHS Foundation Trust, London, UK
  3. 3 National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Centre, Tokyo, Japan
  4. 4 Department of Biosciences, School of Biological and Medical Sciences, University of Durham, Durham, UK
  5. 5 Ophthalmology Department, University of California School of Medicine, San Francisco, California, USA
  1. Correspondence to Dr Vanita Berry, UCL Institute of Ophthalmology, University College London, 11-43 Bath Street, London EC1V 9EL, UK; v.berry{at}ucl.ac.uk and Prof. Michel Michaelides, UCL Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, United Kingdom; michel.michaelides{at}ucl.ac.uk

Abstract

Cataract is the most common cause of blindness in the world; during infancy and early childhood, it frequently results in visual impairment. Congenital cataracts are phenotypically and genotypically heterogeneous and can occur in isolation or in association with other systemic disorders. Significant progress has been made in identifying the molecular genetic basis of cataract; 115 genes to date have been found to be associated with syndromic and non-syndromic cataract and 38 disease-causing genes have been identified to date to be associated with isolated cataract. In this review, we briefly discuss lens development and cataractogenesis, detail the variable cataract phenotypes and molecular mechanisms, including genotype–phenotype correlations, and explore future novel therapeutic avenues including cellular therapies and pharmacological treatments.

  • embryology and development
  • genetics
  • lens and zonules

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/.

https://doi.org/10.1136/bjophthalmol-2019-315282

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    Footnotes

    • Contributors VB: conceived, wrote and provided critical revision of the manuscript. KF, AM, RQ and MM: provided critical revision of the manuscript. MG and VB: produced the figures.

    • Funding Supported by grants from Rosetree Trust (A2223), the National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, Moorfields Eye Hospital Special Trustees, and Moorfields Eye Charity, The Wellcome Trust (099173/Z/12/Z).

    • Competing interests None declared.

    • Patient consent for publication Not required.

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