Inherited retinal disease pathway in the UK: a patient perspective and the potential of AI.

Journal: The British journal of ophthalmology
Published Date: May 9, 2025

Abstract

BACKGROUND: Inherited retinal diseases (IRDs) are the leading cause of blindness in young people in the UK. Despite significant improvements in genomics medicine, the diagnosis of these conditions remains challenging, and around 40% do not receive a definite genetic diagnosis after extensive genetic testing. This survey aims to investigate the experience of individuals affected by IRDs, their relatives, friends and caregivers, focusing on their care and diagnostic journey. Additionally, it explores the potential acceptability of artificial intelligence (AI) technologies, such as Eye2Gene, that predict causative genes from retinal images of patients with IRDs.

Authors

  • Wendy Wong
    University College London Institute of Ophthalmology, London, UK.
  • Dayyanah Sumodhee
    University College London Institute of Ophthalmology, London, UK.
  • Tiyi Morris
    Health Economics, UCL, London, England, UK.
  • Bhavna Tailor
    Eye2Gene Patient Advisory Group, London, UK.
  • Catherine Hollyhead
    Eye2Gene Patient Advisory Group, London, UK.
  • William A Woof
    University College London Institute of Ophthalmology, London, UK.
  • Stephen Archer
    Eye2Gene Patient Advisory Group, London, UK.
  • Carl Veal
    Eye2Gene Patient Advisory Group, London, UK.
  • Loy Lobo
    Eye2Gene Patient Advisory Group, London, UK.
  • Saoud Al-Khuzaei
    University of Oxford, Oxford, UK.
  • Malena Daich Varela
    University College London Institute of Ophthalmology, London, UK.
  • Thales A C de Guimaraes
    University College London Institute of Ophthalmology, London, UK.
  • Manuel Gomes
    Health Economics, UCL, London, England, UK.
  • Mital Shah
  • Mariya Moosajee
    University College London Institute of Ophthalmology, London, UK.
  • Susan M Downes
    University of Oxford, Oxford, 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.
  • 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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