{
  "abstract": "Objectives 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.Design We conducted a James Lind Alliance priority setting partnership that involved two Australian-wide surveys and online workshops.Setting Australia-wide.Participants 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.Outcome measure In Survey 1, we gathered participants’ 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.Results 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.Conclusion 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.",
  "authors": [
    {
      "affiliations": [
        "School of Clinical Medicine, UNSW Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia",
        "Behavioural Sciences Unit, Kids Cancer Centre, Sydney Children’s Hospitals Network Randwick, Randwick, New South Wales, Australia",
        "Stem Cell Medicine Group, Children’s Medical Research Institute, Westmead, New South Wales, Australia"
      ],
      "name": "Eden G Robertson"
    },
    {
      "affiliations": [
        "School of Clinical Medicine, UNSW Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia",
        "Behavioural Sciences Unit, Kids Cancer Centre, Sydney Children’s Hospitals Network Randwick, Randwick, New South Wales, Australia"
      ],
      "name": "Kate Hetherington"
    },
    {
      "affiliations": [
        "Able Australia Services, Melbourne, Victoria, Australia",
        "University of School of Health Sciences, Audiology and Speech Pathology, The University of Melbourne, Parkville Campus, Melbourne, Victoria, Australia"
      ],
      "name": "Meredith Prain"
    },
    {
      "affiliations": [
        "Eye Genetics Research Unit, Children’s Medical Research Institute, The University of Sydney, Sydney, New South Wales, Australia",
        "The Sydney Children’s Hospitals Network, Westmead, New South Wales, Australia",
        "Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia"
      ],
      "name": "Alan Ma"
    },
    {
      "affiliations": [
        "Departments of Optometry and Vision Sciences, and Surgery (Ophthalmology), The University of Melbourne, Parkville Campus, Melbourne, Victoria, Australia",
        "Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia"
      ],
      "name": "Lauren N Ayton"
    },
    {
      "affiliations": [
        "Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia",
        "Department of Clinical Genetics, The Sydney Children’s Hospitals Network, Westmead, New South Wales, Australia",
        "Eye Genetics Research Unit, Children’s Medical Research Institute, Westmead, New South Wales, Australia"
      ],
      "name": "Robyn V Jamieson"
    },
    {
      "affiliations": [
        "Departments of Optometry and Vision Sciences, and Surgery (Ophthalmology), The University of Melbourne, Parkville Campus, Melbourne, Victoria, Australia",
        "UsherKids Australia, Melbourne, Victoria, Australia",
        "Murdoch Children’s Research Institute, Parkville, Victoria, Australia"
      ],
      "name": "Emily Shepard"
    },
    {
      "affiliations": [
        "Retina Australia, Melbourne, Victoria, Australia"
      ],
      "name": "Leighton Boyd"
    },
    {
      "affiliations": [
        "Retina Australia, Melbourne, Victoria, Australia"
      ],
      "name": "Julia Hall"
    },
    {
      "affiliations": [
        "Retina Australia, Melbourne, Victoria, Australia"
      ],
      "name": "Rosemary Boyd"
    },
    {
      "affiliations": [
        "Blind Citizens Australia, Sydney, New South Wales, Australia"
      ],
      "name": "Sally Karandrews"
    },
    {
      "affiliations": [
        "UsherKids Australia, Melbourne, Victoria, Australia"
      ],
      "name": "Hollie Feller"
    },
    {
      "affiliations": [
        "The Sydney Children’s Hospitals Network, Westmead, New South Wales, Australia",
        "Save Sight Institute, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia",
        "Sydney Hospital and Sydney Eye Hospital, Sydney, New South Wales, Australia"
      ],
      "name": "Matthew P Simunovic"
    },
    {
      "affiliations": [
        "The Sydney Children’s Hospitals Network, Westmead, New South Wales, Australia",
        "Eye Genetics Research Unit, Children’s Medical Research Institute, Westmead, New South Wales, Australia",
        "Save Sight Institute, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia",
        "Sydney Hospital and Sydney Eye Hospital, Sydney, New South Wales, Australia"
      ],
      "name": "John R Grigg"
    },
    {
      "affiliations": [
        "N/A, N/A, N/A, Australia"
      ],
      "name": "Kanae Yamamoto"
    },
    {
      "affiliations": [
        "School of Clinical Medicine, UNSW Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia",
        "Behavioural Sciences Unit, Kids Cancer Centre, Sydney Children’s Hospitals Network Randwick, Randwick, New South Wales, Australia"
      ],
      "name": "Claire E Wakefield"
    },
    {
      "affiliations": [
        "Stem Cell Medicine Group, Children’s Medical Research Institute, Westmead, New South Wales, Australia",
        "School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia"
      ],
      "name": "Anai Gonzalez-Cordero"
    }
  ],
  "title": "Australian research priorities for inherited retinal diseases: a James Lind Alliance priority setting partnership",
  "uid": "49dbd3b4-e802-5982-a285-3c542c6afa33"
}