Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene).

Journal: BMJ open
Published Date: Mar 20, 2023

Abstract

INTRODUCTION: Inherited retinal diseases (IRD) are a leading cause of visual impairment and blindness in the working age population. Mutations in over 300 genes have been found to be associated with IRDs and identifying the affected gene in patients by molecular genetic testing is the first step towards effective care and patient management. However, genetic diagnosis is currently slow, expensive and not widely accessible. The aim of the current project is to address the evidence gap in IRD diagnosis with an AI algorithm, Eye2Gene, to accelerate and democratise the IRD diagnosis service.

Authors

  • Quang Nguyen
    UCL Institute of Health Informatics, University College London, London, UK.
  • William Woof
    UCL Institute of Ophthalmology, University College London, London, UK.
  • Nathaniel Kabiri
    UCL Institute of Health Informatics, University College London, London, UK.
  • Sagnik Sen
    Moorfields Eye Hospital NHS Foundation Trust, London, UK.
  • Malena Daich Varela
    UCL Institute of Ophthalmology, University College London, London, UK.
  • Thales Antonio Cabral De Guimaraes
    UCL Institute of Ophthalmology, University College London, London, UK.
  • Mital Shah
  • Dayyanah Sumodhee
    University College London Institute of Ophthalmology, London, UK.
  • Ismail Moghul
    Moorfields Eye Hospital NHS Foundation Trust, London, UK.
  • Saoud Al-Khuzaei
    University of Oxford, Oxford, UK.
  • Yichen Liu
    Moorfields Eye Hospital NHS Foundation Trust, London, UK.
  • Catherine Hollyhead
    Eye2Gene Patient Advisory Group, London, UK.
  • Bhavna Tailor
    Eye2Gene Patient Advisory Group, London, UK.
  • Loy Lobo
    Eye2Gene Patient Advisory Group, London, UK.
  • Carl Veal
    Eye2Gene Patient Advisory Group, London, UK.
  • Stephen Archer
    Eye2Gene Patient Advisory Group, London, UK.
  • Jennifer Furman
    UCL Translational Research Office, University College London, London, UK.
  • Gavin Arno
    UCL Institute of Ophthalmology, University College London, London, UK.
  • Manuel Gomes
    Health Economics, UCL, London, England, UK.
  • Kaoru Fujinami
    Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan k.fujinami@ucl.ac.uk.
  • Savita Madhusudhan
    Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK.
  • Omar A Mahroo
    University College London Institute of Ophthalmology, London, UK.
  • Andrew R Webster
    University College London Institute of Ophthalmology, London, UK.
  • Konstantinos Balaskas
    School of Pharmacy and Optometry, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom; Manchester Royal Eye Hospital, NHS Central Manchester University Hospitals, Manchester, United Kingdom.
  • Susan M Downes
    University of Oxford, Oxford, UK.
  • Michel Michaelides
    University College London Institute of Ophthalmology, London, UK.
  • Nikolas Pontikos
    University College London Institute of Ophthalmology, London, UK n.pontikos@ucl.ac.uk.

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