{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T13:26:13Z","timestamp":1788787573465,"version":"build-2803163510"},"reference-count":31,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2024,7,4]],"date-time":"2024-07-04T00:00:00Z","timestamp":1720051200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Italian Ministry of Health, the Tuscany Region, and the Sicily Region","award":["NET-2016-02363765"],"award-info":[{"award-number":["NET-2016-02363765"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Purpose: To report a case of macular hole and detachment occurring after the subretinal injection of Voretigene Neparvovec (VN) in a patient affected by atypical RPE65 retinal dystrophy with high myopia and its successful surgical management. Case description: We report a case of a 70-year-old man treated with VN in both eyes. The best corrected visual acuity (BCVA) was 0.7 LogMar in the right eye (RE) and 0.92 LogMar in the left eye (LE). Axial length was 29.60 mm in the RE and 30.28 mm in the LE. Both eyes were pseudophakic. In both eyes, fundus examination revealed high myopia, posterior staphyloma, and extended retinal atrophy areas at the posterior pole, circumscribing a central island of surviving retina. Both eyes were treated with VN subretinal injection, but a full-thickness macular hole and retinal detachment occurred in the LE three weeks after surgery. The patient underwent 23-gauge vitrectomy with internal limiting membrane (ILM) peeling and the inverted flap technique with sulfur hexafluoride (SF6) 20% tamponade. Postoperative follow-up showed that the macular hole was closed and the BCVA was maintained. Conclusions: Our experience suggests that patients with atypical RPE65 retinal dystrophy and high myopia undergoing VN subretinal injection require careful management to minimize the risk of macular hole and detachment occurrence and promptly detect and address these potential complications.<\/jats:p>","DOI":"10.3390\/genes15070879","type":"journal-article","created":{"date-parts":[[2024,7,4]],"date-time":"2024-07-04T06:28:54Z","timestamp":1720074534000},"page":"879","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Myopic Macular Hole and Detachment after Gene Therapy in Atypical RPE65 Retinal Dystrophy: A Case Report"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4107-2807","authenticated-orcid":false,"given":"Fabrizio","family":"Giansanti","sequence":"first","affiliation":[{"name":"Eye Clinic, Neuromuscular and Sense Organs Department, Careggi University Hospital, 50134 Florence, Italy"},{"name":"Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, 50121 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7384-3717","authenticated-orcid":false,"given":"Cristina","family":"Nicolosi","sequence":"additional","affiliation":[{"name":"Eye Clinic, Neuromuscular and Sense Organs Department, Careggi University Hospital, 50134 Florence, Italy"},{"name":"Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, 50121 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dario","family":"Giorgio","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, 50121 Florence, Italy"},{"name":"Azienda USL Toscana Nordovest, 56121 Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Sodi","sequence":"additional","affiliation":[{"name":"Eye Clinic, Neuromuscular and Sense Organs Department, Careggi University Hospital, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1661-5312","authenticated-orcid":false,"given":"Dario Pasquale","family":"Mucciolo","sequence":"additional","affiliation":[{"name":"Eye Clinic, Neuromuscular and Sense Organs Department, Careggi University Hospital, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Pavese","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, 50121 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liliana","family":"Pollazzi","sequence":"additional","affiliation":[{"name":"Eye Clinic, Neuromuscular and Sense Organs Department, Careggi University Hospital, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9960-2989","authenticated-orcid":false,"given":"Gianni","family":"Virgili","sequence":"additional","affiliation":[{"name":"Eye Clinic, Neuromuscular and Sense Organs Department, Careggi University Hospital, 50134 Florence, Italy"},{"name":"Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, 50121 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7646-7422","authenticated-orcid":false,"given":"Giulio","family":"Vicini","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, 50121 Florence, Italy"},{"name":"Azienda USL Toscana Nordovest, 56121 Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7000-7457","authenticated-orcid":false,"given":"Ilaria","family":"Passerini","sequence":"additional","affiliation":[{"name":"SODc Diagnostica Genetica, Careggi University Hospital, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabetta","family":"Pelo","sequence":"additional","affiliation":[{"name":"SODc Diagnostica Genetica, Careggi University Hospital, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vittoria","family":"Murro","sequence":"additional","affiliation":[{"name":"Eye Clinic, Neuromuscular and Sense Organs Department, Careggi University Hospital, 50134 Florence, Italy"},{"name":"Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, 50121 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,7,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"179","DOI":"10.2147\/TACG.S230720","article-title":"Voretigene Neparvovec and Gene Therapy for Leber\u2019s Congenital Amaurosis: Review of Evidence to Date","volume":"13","author":"Padhy","year":"2020","journal-title":"Appl. Clin. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1273","DOI":"10.1016\/j.ophtha.2019.06.017","article-title":"Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation-Associated Inherited Retinal Dystrophy: Results of Phase 1 and 3 Trials","volume":"126","author":"Maguire","year":"2019","journal-title":"Ophthalmology"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1016\/S0140-6736(17)31868-8","article-title":"Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: A randomised, controlled, open-label, phase 3 trial","volume":"390","author":"Russell","year":"2017","journal-title":"Lancet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1136\/bjo-2022-321488","article-title":"Subretinal deposits in young patients treated with voretigene neparvovec-rzyl for RPE65-mediated retinal dystrophy","volume":"107","author":"Lopez","year":"2022","journal-title":"Br. 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Case Rep."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1016\/j.ophtha.2022.06.018","article-title":"Inflammation after Voretigene Neparvovec Administration in Patients with RPE65-Related Retinal Dystrophy","volume":"129","author":"Kessel","year":"2022","journal-title":"Ophthalmology"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.oret.2021.03.016","article-title":"Perifoveal Chorioretinal Atrophy after Subretinal Voretigene Neparvovec-rzyl for RPE65-Mediated Leber Congenital Amaurosis","volume":"6","author":"Gange","year":"2022","journal-title":"Ophthalmol. 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