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Gen Med"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Leber congenital amaurosis (LCA) type 2, due to disease\u2010causing variants in <jats:italic>RPE65<\/jats:italic>, is characterized by severe visual loss in early infancy. Current treatments include voretigene neparvovec\u2010rzyl (VN) for <jats:italic>RPE65<\/jats:italic>\u2010associated LCA. Herein, we present the long\u2010term follow\u2010up of a patient treated with VN using quantitative autofluorescence (488\u2009nm excitation).<\/jats:p><\/jats:sec><jats:sec><jats:title>Case Report<\/jats:title><jats:p>A 9\u2010year\u2010old girl with a diagnosis of LCA with biallelic variants in <jats:italic>RPE65<\/jats:italic> presented for evaluation. The patient underwent VN treatment at the age of 11. The patient returned to clinic at age of 19 at which time imaging revealed evidence of chorioretinal atrophy. Quantitative autofluorescence performed prior to gene therapy and at 6\u2010 and 8\u2010year follow\u2010up revealed a central area of fundus autofluorescence.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>This case report demonstrates acquisition of fundus autofluorescence at 6\u2010 and 8\u2010year follow\u2010up despite the development of chorioretinal atrophy.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2038","type":"journal-article","created":{"date-parts":[[2022,10,13]],"date-time":"2022-10-13T05:39:56Z","timestamp":1665639596000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Chorioretinal atrophy following voretigene neparvovec despite the presence of fundus autofluorescence"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7803-9632","authenticated-orcid":false,"given":"Masha","family":"Kolesnikova","sequence":"first","affiliation":[{"name":"Edward S. Harkness Eye Institute New York\u2010Presbyterian Hospital  New York New York USA"},{"name":"Jonas Children's Vision Care and Bernard &amp; Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology Columbia University Irving Medical Center  New York New York USA"},{"name":"College of Medicine at the State University of New York at Downstate Medical Center  Brooklyn New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Jose Ronaldo","family":"Lima de Carvalho","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Hospital das Cl\u00ednicas de Pernambuco, Empresa Brasileira de Servi\u00e7os Hospitalares Federal University of Pernambuco  Recife Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rait","family":"Parmann","sequence":"additional","affiliation":[{"name":"Edward S. Harkness Eye Institute New York\u2010Presbyterian Hospital  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela H.","family":"Kim","sequence":"additional","affiliation":[{"name":"Edward S. Harkness Eye Institute New York\u2010Presbyterian Hospital  New York New York USA"},{"name":"Jonas Children's Vision Care and Bernard &amp; Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology Columbia University Irving Medical Center  New York New York USA"},{"name":"College of Medicine at the State University of New York at Downstate Medical Center  Brooklyn New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vinit B.","family":"Mahajan","sequence":"additional","affiliation":[{"name":"Byers Eye Institute, Molecular Surgery Program Stanford University  Palo Alto California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9082-2427","authenticated-orcid":false,"given":"Stephen H.","family":"Tsang","sequence":"additional","affiliation":[{"name":"Edward S. Harkness Eye Institute New York\u2010Presbyterian Hospital  New York New York USA"},{"name":"Jonas Children's Vision Care and Bernard &amp; Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology Columbia University Irving Medical Center  New York New York USA"},{"name":"Department of Pathology &amp; Cell Biology Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janet R.","family":"Sparrow","sequence":"additional","affiliation":[{"name":"Edward S. Harkness Eye Institute New York\u2010Presbyterian Hospital  New York New York USA"},{"name":"Department of Pathology &amp; Cell Biology Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,10,12]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.oret.2021.03.016"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2019.107834"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaophthalmol.2020.2018"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2019.06.017"},{"key":"e_1_2_9_6_1","unstructured":"Online Mendelian Inheritance in Man OMIM\u00ae. (2021).Johns Hopkins University. 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