{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T17:44:42Z","timestamp":1788284682563,"version":"build-2803163510"},"reference-count":38,"publisher":"BMJ","issue":"9","license":[{"start":{"date-parts":[[2025,9,29]],"date-time":"2025-09-29T00:00:00Z","timestamp":1759104000000},"content-version":"unspecified","delay-in-days":28,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["1195713"],"award-info":[{"award-number":["1195713"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["2008300"],"award-info":[{"award-number":["2008300"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Luminesce Alliance"},{"name":"Australian Medical Research Future Fund (MRFF) Stem Cell Therapies Mission Grant","award":["2016039"],"award-info":[{"award-number":["2016039"]}]},{"name":"Rebecca Cooper Foundation"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Open"],"accepted":{"date-parts":[[2025,9,2]]},"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:sec>\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Inherited retinal diseases (IRDs) are a broad range of diseases associated with abnormalities\/degeneration of retinal cells. We aimed to identify the top 10 Australian research priorities for IRDs to ultimately facilitate more meaningful and potentially cost-effective research.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Design<\/jats:title>\n                  <jats:p>We conducted a James Lind Alliance priority setting partnership that involved two Australian-wide surveys and online workshops.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Setting<\/jats:title>\n                  <jats:p>Australia-wide.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Participants<\/jats:title>\n                  <jats:p>Individuals aged 16 years or older were eligible to participate if they had an IRD, were caregivers of an individual with an IRD or were health professionals providing care to this community.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Outcome measure<\/jats:title>\n                  <jats:p>In Survey 1, we gathered participants\u2019 unanswered questions about IRDs. We grouped these into summary questions and undertook a literature review to verify if they were truly unanswered (ie, evidence uncertainties). In Survey 2, participants voted for the uncertainties that they considered a priority. Top-ranked uncertainties progressed for discussion and final prioritisation in two workshops.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>In Survey 1, we collected 223 questions from 69 participants. We grouped these into 42 summary questions and confirmed 41 as evidence uncertainties. In Survey 2, 151 participants voted, with the 16 uncertainties progressing to final prioritisation. The top 10 priorities, set by the 24 workshop participants, represented (1) treatment\/cure; (2) symptoms and disease progression; (3) psychosocial well-being and (4) health service delivery. The #1 priority was for treatment to prevent, slow down or stop vision loss, followed by the #2 priority to address the psychological impact of having an IRD.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>The top 10 research priorities highlight the need for IRD research that takes a whole-person, systems approach. Collaborations to progress priorities will accelerate the translation of research into real-world benefits.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/bmjopen-2025-100301","type":"journal-article","created":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T09:16:29Z","timestamp":1759223789000},"page":"e100301","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Australian research priorities for inherited retinal diseases: a James Lind Alliance priority setting partnership"],"prefix":"10.1136","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9395-7896","authenticated-orcid":false,"given":"Eden G","family":"Robertson","sequence":"first","affiliation":[{"name":"School of Clinical Medicine, UNSW Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia"},{"name":"Behavioural Sciences Unit, Kids Cancer Centre, Sydney Children\u2019s Hospitals Network Randwick, Randwick, New South Wales, Australia"},{"name":"Stem Cell Medicine Group, Children\u2019s Medical Research Institute, Westmead, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate","family":"Hetherington","sequence":"additional","affiliation":[{"name":"School of Clinical Medicine, UNSW Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia"},{"name":"Behavioural Sciences Unit, Kids Cancer Centre, Sydney Children\u2019s Hospitals Network Randwick, Randwick, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meredith","family":"Prain","sequence":"additional","affiliation":[{"name":"Able Australia Services, Melbourne, Victoria, Australia"},{"name":"University of School of Health Sciences, Audiology and Speech Pathology, The University of Melbourne, Parkville Campus, Melbourne, Victoria, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan","family":"Ma","sequence":"additional","affiliation":[{"name":"Eye Genetics Research Unit, Children\u2019s Medical Research Institute, The University of Sydney, Sydney, New South Wales, Australia"},{"name":"The Sydney Children\u2019s Hospitals Network, Westmead, New South Wales, Australia"},{"name":"Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren N","family":"Ayton","sequence":"additional","affiliation":[{"name":"Departments of Optometry and Vision Sciences, and Surgery (Ophthalmology), The University of Melbourne, Parkville Campus, Melbourne, Victoria, Australia"},{"name":"Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robyn V","family":"Jamieson","sequence":"additional","affiliation":[{"name":"Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia"},{"name":"Department of Clinical Genetics, The Sydney Children\u2019s Hospitals Network, Westmead, New South Wales, Australia"},{"name":"Eye Genetics Research Unit, Children\u2019s Medical Research Institute, Westmead, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Shepard","sequence":"additional","affiliation":[{"name":"Departments of Optometry and Vision Sciences, and Surgery (Ophthalmology), The University of Melbourne, Parkville Campus, Melbourne, Victoria, Australia"},{"name":"UsherKids Australia, Melbourne, Victoria, Australia"},{"name":"Murdoch Children\u2019s Research Institute, Parkville, Victoria, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leighton","family":"Boyd","sequence":"additional","affiliation":[{"name":"Retina Australia, Melbourne, Victoria, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Hall","sequence":"additional","affiliation":[{"name":"Retina Australia, Melbourne, Victoria, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosemary","family":"Boyd","sequence":"additional","affiliation":[{"name":"Retina Australia, Melbourne, Victoria, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sally","family":"Karandrews","sequence":"additional","affiliation":[{"name":"Blind Citizens Australia, Sydney, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hollie","family":"Feller","sequence":"additional","affiliation":[{"name":"UsherKids Australia, Melbourne, Victoria, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0596-1356","authenticated-orcid":false,"given":"Matthew P","family":"Simunovic","sequence":"additional","affiliation":[{"name":"The Sydney Children\u2019s Hospitals Network, Westmead, New South Wales, Australia"},{"name":"Save Sight Institute, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia"},{"name":"Sydney Hospital and Sydney Eye Hospital, Sydney, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John R","family":"Grigg","sequence":"additional","affiliation":[{"name":"The Sydney Children\u2019s Hospitals Network, Westmead, New South Wales, Australia"},{"name":"Eye Genetics Research Unit, Children\u2019s Medical Research Institute, Westmead, New South Wales, Australia"},{"name":"Save Sight Institute, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, 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