{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T20:09:26Z","timestamp":1789589366466,"version":"build-2803163510"},"reference-count":24,"publisher":"BMJ","issue":"11","license":[{"start":{"date-parts":[[2025,5,9]],"date-time":"2025-05-09T00:00:00Z","timestamp":1746748800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100009187","name":"Medical Research Foundation","doi-asserted-by":"publisher","award":["MRF-JF-EH-23-122"],"award-info":[{"award-number":["MRF-JF-EH-23-122"]}],"id":[{"id":"10.13039\/501100009187","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000305","name":"Sight Research UK","doi-asserted-by":"publisher","award":["TRN004"],"award-info":[{"award-number":["TRN004"]}],"id":[{"id":"10.13039\/501100000305","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health and Care Research","doi-asserted-by":"publisher","award":["AI_AWARD02488"],"award-info":[{"award-number":["AI_AWARD02488"]}],"id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012618","name":"National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology","doi-asserted-by":"publisher","award":["NIHR203322"],"award-info":[{"award-number":["NIHR203322"]}],"id":[{"id":"10.13039\/501100012618","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Br J Ophthalmol"],"accepted":{"date-parts":[[2025,4,17]]},"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This cross-sectional survey included Likert scale and open-ended questions and was distributed electronically using the Qualtrics platform between April and August 2024. The survey included questions on respondent demographics; their journey to receive specialist care and genetic testing; their information needs and their attitude towards AI-augmented diagnosis. Descriptive statistics and content analysis were used to interpret the survey responses.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The survey had 247 responses, of which 242 were analysed after removing four duplicates and one without consent; 80.2% were patients and the remainder were relatives, friends or caregivers. There was substantial variability in patient diagnostic journeys in terms of waiting times to see a specialist (IQR, 1\u20134 years), commute required (IQR, 10\u201374 miles) and number of visits to reach a diagnosis (IQR, 2\u20134). A substantial proportion of patients (35.8%) had a change in diagnosis. The majority of respondents (&gt;90%) were overwhelmingly in favour of the integration of AI into the IRD pathway to accelerate genetic diagnosis and improve care.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This survey identifies several key gaps and disparities in the IRD care pathway which may potentially be bridged with AI. The survey also reveals a favourable attitude towards incorporating AI into diagnostic testing of IRDs.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/bjo-2024-327074","type":"journal-article","created":{"date-parts":[[2025,5,9]],"date-time":"2025-05-09T13:20:21Z","timestamp":1746796821000},"page":"1266-1271","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":6,"title":["Inherited retinal disease pathway in the UK: a patient perspective and the potential of AI"],"prefix":"10.1136","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4514-250X","authenticated-orcid":false,"given":"Wendy","family":"Wong","sequence":"first","affiliation":[{"name":"University College London Institute of Ophthalmology, London, UK"},{"name":"Genetics, Moorfields Eye Hospital NHS Foundation Trust, London, UK"},{"name":"Department of Ophthalmology, Centre for Innovation, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7274-6088","authenticated-orcid":false,"given":"Dayyanah","family":"Sumodhee","sequence":"additional","affiliation":[{"name":"University College London Institute of Ophthalmology, London, UK"},{"name":"Genetics, Moorfields Eye Hospital NHS Foundation Trust, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiyi","family":"Morris","sequence":"additional","affiliation":[{"name":"Health Economics, UCL, London, England, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bhavna","family":"Tailor","sequence":"additional","affiliation":[{"name":"Eye2Gene Patient Advisory Group, London, UK"},{"name":"Stargardt's Connected, Waltham Cross, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Hollyhead","sequence":"additional","affiliation":[{"name":"Eye2Gene Patient Advisory Group, London, 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UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saoud","family":"Al-Khuzaei","sequence":"additional","affiliation":[{"name":"University of Oxford, Oxford, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malena","family":"Daich Varela","sequence":"additional","affiliation":[{"name":"University College London Institute of Ophthalmology, London, UK"},{"name":"Genetics, Moorfields Eye Hospital NHS Foundation Trust, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7936-6851","authenticated-orcid":false,"given":"Thales A","family":"C de Guimaraes","sequence":"additional","affiliation":[{"name":"University College London Institute of Ophthalmology, London, UK"},{"name":"Genetics, Moorfields Eye Hospital NHS Foundation Trust, London, UK"},{"name":"Department of Ophthalmology, Faculdade S\u00e3o Leopoldo Mandic, Campinas, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel","family":"Gomes","sequence":"additional","affiliation":[{"name":"Health Economics, UCL, London, England, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mital","family":"Shah","sequence":"additional","affiliation":[{"name":"University College London Institute of Ophthalmology, London, UK"},{"name":"Genetics, Moorfields Eye Hospital NHS Foundation Trust, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1688-5360","authenticated-orcid":false,"given":"Mariya","family":"Moosajee","sequence":"additional","affiliation":[{"name":"University College London Institute of Ophthalmology, London, UK"},{"name":"Genetics, Moorfields Eye Hospital NHS Foundation Trust, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan M","family":"Downes","sequence":"additional","affiliation":[{"name":"University of Oxford, Oxford, 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Meeting the Moment: Addressing Barriers and Facilitating Clinical Adoption of Artificial Intelligence in Medical Diagnosis. NAM Perspect 2022;2022. doi:10.31478\/202209c","DOI":"10.31478\/202209c"},{"key":"2026012223102360000_109.11.1266.15","doi-asserted-by":"crossref","DOI":"10.1136\/bmjopen-2022-071043","article-title":"Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? 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