Journal article
Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene)
- Abstract:
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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.
Methods and analysis The data-only retrospective cohort study involves a target sample size of 10 000 participants, which has been derived based on the number of participants with IRD at three leading UK eye hospitals: Moorfields Eye Hospital (MEH), Oxford University Hospital (OUH) and Liverpool University Hospital (LUH), as well as a Japanese hospital, the Tokyo Medical Centre (TMC). Eye2Gene aims to predict causative genes from retinal images of patients with a diagnosis of IRD. For this purpose, 36 most common causative IRD genes have been selected to develop a training dataset for the software to have enough examples for training and validation for detection of each gene. The Eye2Gene algorithm is composed of multiple deep convolutional neural networks, which will be trained on MEH IRD datasets, and externally validated on OUH, LUH and TMC.
Ethics and dissemination This research was approved by the IRB and the UK Health Research Authority (Research Ethics Committee reference 22/WA/0049) ‘Eye2Gene: accelerating the diagnosis of IRDs’ Integrated Research Application System (IRAS) project ID: 242050. All research adhered to the tenets of the Declaration of Helsinki. Findings will be reported in an open-access format.
- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Preview, Version of record, pdf, 1.6MB, Terms of use)
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- Publisher copy:
- 10.1136/bmjopen-2022-071043
- Publisher:
- BMJ Publishing Group
- Journal:
- BMJ Open More from this journal
- Volume:
- 13
- Issue:
- 3
- Article number:
- e071043
- Place of publication:
- England
- Publication date:
- 2023-03-20
- Acceptance date:
- 2023-03-06
- DOI:
- EISSN:
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2044-6055
- Pmid:
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36940949
- Language:
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English
- Keywords:
- Pubs id:
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1333919
- Local pid:
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pubs:1333919
- Deposit date:
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2023-07-19
Terms of use
- Copyright holder:
- Nguyen et al.
- Copyright date:
- 2023
- Rights statement:
- © Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY. Published by BMJ. 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.
- Licence:
- CC Attribution (CC BY)
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