{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T19:41:03Z","timestamp":1791229263921,"version":"4.1.0"},"reference-count":30,"publisher":"Association for Research in Vision and Ophthalmology (ARVO)","issue":"12","license":[{"start":{"date-parts":[[2024,12,6]],"date-time":"2024-12-06T00:00:00Z","timestamp":1733443200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Trans. Vis. Sci. Tech."],"published-print":{"date-parts":[[2024,12,6]]},"DOI":"10.1167\/tvst.13.12.9","type":"journal-article","created":{"date-parts":[[2024,12,6]],"date-time":"2024-12-06T16:30:53Z","timestamp":1733502653000},"page":"9","source":"Crossref","is-referenced-by-count":1,"title":["Patient-Reported Experience Measurements From Individuals With Inherited Retinal Disorders Involved in Observational Research"],"prefix":"10.1167","volume":"13","author":[{"given":"Malena","family":"Daich Varela","sequence":"first","affiliation":[{"name":"Moorfields Eye Hospital, London, UK"},{"name":"UCL Institute of Ophthalmology, University College London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaima","family":"Hashem","sequence":"additional","affiliation":[{"name":"Moorfields Eye Hospital, London, UK"},{"name":"UCL Institute of Ophthalmology, University College London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dayyanah","family":"Sumodhee","sequence":"additional","affiliation":[{"name":"Moorfields Eye Hospital, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Michaelides","sequence":"additional","affiliation":[{"name":"Moorfields Eye Hospital, London, UK"},{"name":"UCL Institute of Ophthalmology, University College London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"27","reference":[{"key":"bib1","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1111\/ceo.13917","article-title":"Inherited retinal diseases: therapeutics, clinical trials and end-points\u2014a review","volume":"49","author":"Georgiou","year":"2021","journal-title":"Clin Exp Ophthalmol"},{"issue":"4","key":"bib2","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1167\/iovs.61.4.47","article-title":"Retinal structure in RPE65-associated retinal dystrophy","volume":"61","author":"Kumaran","year":"2020","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib3","doi-asserted-by":"publisher","first-page":"711","DOI":"10.1136\/bjophthalmol-2018-313278","article-title":"Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy","volume":"103","author":"Gill","year":"2019","journal-title":"Br J Ophthalmol"},{"key":"bib4","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1136\/bjophthalmol-2014-306505","article-title":"The cone dysfunction syndromes","volume":"100","author":"Aboshiha","year":"2016","journal-title":"Br J Ophthalmol"},{"issue":"1","key":"bib5","doi-asserted-by":"publisher","first-page":"100106","DOI":"10.1016\/j.xops.2021.100106","article-title":"Patient-reported health-related quality of life in individuals with inherited retinal diseases","volume":"2","author":"Schofield","year":"2022","journal-title":"Ophthalmol Sci"},{"key":"bib6","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1016\/j.ophtha.2023.10.017","article-title":"Diagnostic odyssey of more than 1000 patients with inherited retinal diseases","volume":"131","author":"Daich Varela","year":"2024","journal-title":"Ophthalmology"},{"key":"bib7","doi-asserted-by":"publisher","first-page":"2710","DOI":"10.1073\/pnas.1913179117","article-title":"Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases","volume":"117","author":"Hanany","year":"2020","journal-title":"Proc Natl Acad Sci USA"},{"issue":"2","key":"bib8","doi-asserted-by":"publisher","first-page":"e004015","DOI":"10.1136\/bmjopen-2013-004015","article-title":"A comparison of the causes of blindness certifications in England and Wales in working age adults (16-64 years), 1999\u20132000 with 2009\u20132010","volume":"4","author":"Liew","year":"2014","journal-title":"BMJ Open"},{"key":"bib9","doi-asserted-by":"publisher","first-page":"734601","DOI":"10.3389\/fphar.2021.734601","article-title":"An objective approach to identify priority rare diseases for the development of solutions reducing the diagnostic delay based on French data","volume":"12","author":"Chazal","year":"2021","journal-title":"Front Pharmacol"},{"key":"bib10","doi-asserted-by":"publisher","first-page":"490","DOI":"10.1016\/j.drudis.2021.10.014","article-title":"Knowledge-based approaches to drug discovery for rare diseases","volume":"27","author":"Alves","year":"2022","journal-title":"Drug Discov Today"},{"key":"bib11","doi-asserted-by":"publisher","first-page":"1713","DOI":"10.3390\/biom11111713","article-title":"Rare does not mean worthless: how rare diseases have shaped neurodevelopment research in the NGS era","volume":"11","author":"Zaghi","year":"2021","journal-title":"Biomolecules"},{"key":"bib12","doi-asserted-by":"publisher","first-page":"445","DOI":"10.1136\/bjophthalmol-2020-318483","article-title":"Leber Congenital Amaurosis\/Early-Onset Severe Retinal Dystrophy: Current Management and Clinical Trials","volume":"106","author":"Daich Varela","year":"2022","journal-title":"Br J Ophthalmol"},{"key":"bib13","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1001\/archopht.121.2.211","article-title":"National Eye Institute visual function questionnaire in the age-related eye disease study (AREDS): AREDS report no. 10","volume":"121","author":"Clemons","year":"2003","journal-title":"Arch Ophthalmol"},{"key":"bib14","doi-asserted-by":"publisher","first-page":"1050","DOI":"10.1001\/archopht.119.7.1050","article-title":"Development of the 25-item National Eye Institute Visual Function Questionnaire","volume":"119","author":"Mangione","year":"2001","journal-title":"Arch Ophthalmol"},{"key":"bib15","doi-asserted-by":"publisher","first-page":"1887","DOI":"10.1056\/NEJMoa1414221","article-title":"Long-term effect of gene therapy on Leber's congenital amaurosis","volume":"372","author":"Bainbridge","year":"2015","journal-title":"N Engl J Med"},{"issue":"9923","key":"bib16","doi-asserted-by":"publisher","first-page":"1129","DOI":"10.1016\/S0140-6736(13)62117-0","article-title":"Retinal gene therapy in patients with choroideremia: initial findings from a phase 1\/2 clinical trial","volume":"383","author":"MacLaren","year":"2014","journal-title":"Lancet"},{"key":"bib17","doi-asserted-by":"publisher","first-page":"4732","DOI":"10.1167\/iovs.06-0220","article-title":"The Impact of Vision Impairment Questionnaire: an evaluation of its measurement properties using Rasch analysis","volume":"47","author":"Lamoureux","year":"2006","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib18","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1093\/bjaed\/mkw060","article-title":"Patient-reported outcome measures and patient-reported experience measures","volume":"17","author":"Kingsley","year":"2017","journal-title":"Bja Educ"},{"key":"bib19","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1093\/bja\/aer052","article-title":"Quality improvement and revalidation: two goals, same strategy?","volume":"106","author":"Moonesinghe","year":"2011","journal-title":"Br J Anaesth"},{"key":"bib20","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1016\/j.surge.2020.05.001","article-title":"Patients\u2019 reported experiences and outcomes following surgical excision of lower limb osteomyelitis and microvascular free tissue reconstruction under \u201cawake\u201d epidural anaesthesia and sedation","volume":"19","author":"Galitzine","year":"2021","journal-title":"Surgeon"},{"key":"bib21","doi-asserted-by":"publisher","first-page":"6329","DOI":"10.3390\/ijerph17176329","article-title":"Parents\u2019 reported experiences when having a child with cataract-important aspects of self-management obtained from the Paediatric Cataract Register (PECARE)","volume":"17","author":"Gyll\u00e9n","year":"2020","journal-title":"Int J Environ Res Public Health"},{"key":"bib22","doi-asserted-by":"publisher","first-page":"1074","DOI":"10.1016\/j.hlc.2018.07.011","article-title":"Development and validation of a questionnaire to measure patient's experiences of health care in pulmonary arterial hypertension outpatient clinics","volume":"28","author":"Waldr\u00e9us","year":"2019","journal-title":"Heart Lung Circ"},{"key":"bib23","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1186\/s12939-020-01370-6","article-title":"Validation of the patient-reported experience measure for care in Chinese hospitals (PREM-CCH)","volume":"20","author":"Wang","year":"2021","journal-title":"Int J Equity Health"},{"issue":"3","key":"bib24","first-page":"iii15","article-title":"Prognostic factors for multiple sclerosis: the importance of natural history studies","volume":"252","author":"Ebers","year":"2005","journal-title":"J Neurol"},{"key":"bib25","doi-asserted-by":"publisher","first-page":"1038","DOI":"10.1016\/j.clinthera.2022.07.003","article-title":"The ultramarathon of gene therapy development for rare diseases: how can we cross the finish line together?","volume":"44","author":"Ward","year":"2022","journal-title":"Clin Ther"},{"key":"bib26","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1080\/09613218.2022.2124945","article-title":"Forms of environmental support: The roles that contemporary outpatient oncology settings play in shaping patient experience","volume":"51","author":"Sadek","year":"2023","journal-title":"Build Res Inf"},{"issue":"2","key":"bib27","doi-asserted-by":"publisher","first-page":"100034","DOI":"10.1016\/j.xops.2021.100034","article-title":"Prospective, longitudinal pilot study: daily self-imaging with patient-operated home OCT in neovascular age-related macular degeneration","volume":"1","author":"Keenan","year":"2021","journal-title":"Ophthalmol Sci"},{"key":"bib28","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1016\/j.ajo.2020.12.012","article-title":"Automated quantitative assessment of retinal fluid volumes as important biomarkers in neovascular age-related macular degeneration","volume":"224","author":"Keenan","year":"2021","journal-title":"Am J Ophthalmol"},{"key":"bib29","article-title":"Digital health and wearable devices for retinal disease monitoring [published online ahead of print September 19, 2024]","author":"Daich Varela","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"bib30","doi-asserted-by":"publisher","first-page":"474","DOI":"10.1038\/s41434-019-0110-7","article-title":"A rare disease patient\/caregiver perspective on fair pricing and access to gene-based therapies","volume":"27","author":"White","year":"2020","journal-title":"Gene Ther"}],"container-title":["Translational Vision Science &amp; Technology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/tvst.arvojournals.org\/article.aspx?articleid=2802329","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,6]],"date-time":"2024-12-06T16:30:55Z","timestamp":1733502655000},"score":1,"resource":{"primary":{"URL":"https:\/\/tvst.arvojournals.org\/article.aspx?articleid=2802329"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,6]]},"references-count":30,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2024,12,2]]}},"URL":"https:\/\/doi.org\/10.1167\/tvst.13.12.9","relation":{},"ISSN":["2164-2591"],"issn-type":[{"value":"2164-2591","type":"print"}],"subject":[],"published":{"date-parts":[[2024,12,6]]}}}