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Chorioretinal atrophy following voretigene neparvovec despite the presence of fundus autofluorescence.

dc.contributor.authorKolesnikova, Masha
dc.contributor.authorLima de Carvalho, Jose Ronaldo
dc.contributor.authorParmann, Rait
dc.contributor.authorKim, Angela H
dc.contributor.authorMahajan, Vinit B
dc.contributor.authorTsang, Stephen H
dc.contributor.authorSparrow, Janet R
dc.date.accessioned2023-03-22T16:26:35Z
dc.date.available2023-03-22T16:26:35Z
dc.date.issued2022-10-12
dc.identifier.citationKolesnikova M, Lima de Carvalho JR Jr, Parmann R, Kim AH, Mahajan VB, Tsang SH, Sparrow JR. Chorioretinal atrophy following voretigene neparvovec despite the presence of fundus autofluorescence. Mol Genet Genomic Med. 2022 Nov;10(11):e2038. doi: 10.1002/mgg3.2038. Epub 2022 Oct 12. PMID: 36225124; PMCID: PMC9651599.en_US
dc.identifier.eissn2324-9269
dc.identifier.doi10.1002/mgg3.2038
dc.identifier.pmid36225124
dc.identifier.urihttp://hdl.handle.net/20.500.12648/8525
dc.description.abstractLeber congenital amaurosis (LCA) type 2, due to disease-causing variants in RPE65, is characterized by severe visual loss in early infancy. Current treatments include voretigene neparvovec-rzyl (VN) for RPE65-associated LCA. Herein, we present the long-term follow-up of a patient treated with VN using quantitative autofluorescence (488 nm excitation).
dc.description.abstractA 9-year-old girl with a diagnosis of LCA with biallelic variants in RPE65 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- and 8-year follow-up revealed a central area of fundus autofluorescence.
dc.description.abstractThis case report demonstrates acquisition of fundus autofluorescence at 6- and 8-year follow-up despite the development of chorioretinal atrophy.
dc.language.isoenen_US
dc.relation.urlhttps://onlinelibrary.wiley.com/doi/10.1002/mgg3.2038en_US
dc.rights© 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.subjectchorioretinal atrophyen_US
dc.subjectgene therapyen_US
dc.subjectinherited retinal diseaseen_US
dc.subjectleber congenital amaurosisen_US
dc.subjectquantitative autofluorescenceen_US
dc.subjectvoretigene neparvovec-rzylen_US
dc.titleChorioretinal atrophy following voretigene neparvovec despite the presence of fundus autofluorescence.en_US
dc.typeArticle/Reviewen_US
dc.source.journaltitleMolecular genetics & genomic medicineen_US
dc.source.volume10
dc.source.issue11
dc.source.beginpagee2038
dc.source.endpage
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.description.versionVoRen_US
refterms.dateFOA2023-03-22T16:26:36Z
html.description.abstractLeber congenital amaurosis (LCA) type 2, due to disease-causing variants in RPE65, is characterized by severe visual loss in early infancy. Current treatments include voretigene neparvovec-rzyl (VN) for RPE65-associated LCA. Herein, we present the long-term follow-up of a patient treated with VN using quantitative autofluorescence (488 nm excitation).
html.description.abstractA 9-year-old girl with a diagnosis of LCA with biallelic variants in RPE65 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- and 8-year follow-up revealed a central area of fundus autofluorescence.
html.description.abstractThis case report demonstrates acquisition of fundus autofluorescence at 6- and 8-year follow-up despite the development of chorioretinal atrophy.
dc.description.institutionSUNY Downstateen_US
dc.description.departmentMedicineen_US
dc.description.degreelevelN/Aen_US
dc.identifier.journalMolecular genetics & genomic medicine


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© 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.
Except where otherwise noted, this item's license is described as © 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.