{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,18]],"date-time":"2026-04-18T01:14:51Z","timestamp":1776474891339,"version":"3.51.2"},"reference-count":21,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ophthalmic Res"],"published-print":{"date-parts":[[2023]]},"abstract":"Introduction: The aim of this study was to evaluate the current management of RPE65 biallelic mutation-associated inherited retinal degeneration (RPE65-IRD) in Europe since market authorization of voretigene neparvovec (VN, LuxturnaTM) in 2018. By July 2022, over 200 patients have been treated outside the USA, of whom about 90% in Europe. We conducted among all centers of the European Vision Institute Clinical Research Network (<ext-link ext-link-type=\"uri\" xlink:href=\"http:\/\/EVICR.net\" xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\">EVICR.net<\/ext-link>) and health care providers (HCPs) of the European Reference Network dedicated to Rare Eye Diseases (ERN-EYE) the second multinational survey on management of IRDs in Europe elaborated by <ext-link ext-link-type=\"uri\" xlink:href=\"http:\/\/EVICR.net\" xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\">EVICR.net<\/ext-link> with a special focus on RPE65-IRD. Methods: An electronic survey questionnaire with 48 questions specifically addressing RPE65-IRD (2019 survey 35) was developed and sent by June 2021 to 95 <ext-link ext-link-type=\"uri\" xlink:href=\"http:\/\/EVICR.net\" xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\">EVICR.net<\/ext-link> centers and 40 ERN-EYE HCPs and affiliated members. Of note, 11 centers are members of both networks. Statistical analysis was performed with Excel and R. Results: The overall response rate was 44% (55\/124); 26 centers follow RPE65 biallelic mutation-associated IRD patients. By June 2021, 8\/26 centers have treated 57 RPE65-IRD cases (1\u201319\/center, median 6) and 43 planned for treatment (range 0\u201310\/center, median 6). The overall age range was 3\u201352 years, and on average 22% of the patients did not (yet) qualify for treatment (range 2\u201360%\/center, median 15%). Main reasons were too advanced (range 0\u2013100, median 75%) or mild disease (range 0\u2013100, median 0). Eighty-three percent of centers (10\/12) that follow RPE65 mutation-associated IRD patients treated with VN participate in the PERCEIVE registry (EUPAS31153, <ext-link ext-link-type=\"uri\" xlink:href=\"http:\/\/www.encepp.eu\/encepp\/viewResource.htm?id=37005\" xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\">http:\/\/www.encepp.eu\/encepp\/viewResource.htm?id=37005<\/ext-link>). Quality of life and full-field stimulus test improvements had the highest scores of the survey-reported outcome parameters in VN treatment follow-up. Conclusion: This second multinational survey on management of RPE65-IRD by <ext-link ext-link-type=\"uri\" xlink:href=\"http:\/\/EVICR.net\" xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\">EVICR.net<\/ext-link> centers and ERN-EYE HCPs in Europe indicates that RPE65-IRD might be diagnosed more reliably in 2021 compared to 2019. By June 2021, 8\/26 centers reported detailed results including VN treatment. Main reasons for non-treatment were too advanced or mild disease, followed by absence of 2 class 4 or 5 mutations on both alleles or because of a too young age. Patient satisfaction with treatment was estimated to be high by 50% of the centers. <\/jats:p>","DOI":"10.1159\/000529777","type":"journal-article","created":{"date-parts":[[2023,3,6]],"date-time":"2023-03-06T22:00:37Z","timestamp":1678140037000},"page":"727-748","source":"Crossref","is-referenced-by-count":8,"title":["Current Management of Patients with RPE65 Mutation Associated Inherited Retinal Degenerations in Europe: Results of a 2-Year Follow-Up Multinational Survey"],"prefix":"10.1159","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9737-8127","authenticated-orcid":false,"given":"Birgit","family":"Lorenz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joana","family":"Tavares","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L. Ingeborgh","family":"van den Born","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1014-0483","authenticated-orcid":false,"given":"Jo\u00e3o Pedro","family":"Marques","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6677-7697","authenticated-orcid":false,"given":"Elisabetta","family":"Pilotto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8132-911X","authenticated-orcid":false,"given":"Katarina","family":"Stingl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0351-6673","authenticated-orcid":false,"given":"Peter","family":"Charbel Issa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1412-6611","authenticated-orcid":false,"given":"Doroth\u00e9e","family":"Leroux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u00e9l\u00e8ne","family":"Dollfus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hendrik P.N.","family":"Scholl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2023,3,6]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1097-194"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1097-139"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2020.04.008"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2018.09.024"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.07-1671"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2015-308019"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(16)30371-3"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(17)31868-8"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2019.06.017"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2021.03.031"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1159\/000515688"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01756-x"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2019.1582069"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.3390\/genes12081261"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01807-3"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1186\/s40662-021-00243-5"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.2147\/OPTH.S241928"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2004.01.033"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016\/j.oret.2021.11.005"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1016\/j.oret.2021.03.016"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2021-321023"}],"container-title":["Ophthalmic Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/ore\/article-pdf\/66\/1\/727\/4013816\/000529777.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/ore\/article-pdf\/66\/1\/727\/4013816\/000529777.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:17:05Z","timestamp":1745421425000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000529777"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023]]},"references-count":21,"URL":"https:\/\/doi.org\/10.1159\/000529777","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.22219426","asserted-by":"subject"}]},"ISSN":["0030-3747","1423-0259"],"issn-type":[{"value":"0030-3747","type":"print"},{"value":"1423-0259","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023]]}}}