Loading...
Chorioretinal atrophy following voretigene neparvovec despite the presence of fundus autofluorescence.
Journal Title
Molecular genetics & genomic medicine
Readers/Advisors
Journal Title
Term and Year
Publication Date
2022-10-12
Book Title
Publication Volume
10
Publication Issue
11
Publication Begin
e2038
Publication End
Number of pages
Collections
Research Projects
Organizational Units
Journal Issue
Abstract
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.
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.