Chorioretinal atrophy following voretigene neparvovec despite the presence of fundus autofluorescence.
Keyword
chorioretinal atrophygene therapy
inherited retinal disease
leber congenital amaurosis
quantitative autofluorescence
voretigene neparvovec-rzyl
Journal title
Molecular genetics & genomic medicineDate Published
2022-10-12Publication Volume
10Publication Issue
11Publication Begin page
e2038Metadata
Show full item recordAbstract
Leber 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).A 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.
This case report demonstrates acquisition of fundus autofluorescence at 6- and 8-year follow-up despite the development of chorioretinal atrophy.
Citation
Kolesnikova 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.DOI
10.1002/mgg3.2038Scopus Count
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Except where otherwise noted, this item's license is described as © 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.