Title | Chorioretinal atrophy following voretigene neparvovec despite the presence of fundus autofluorescence. |
Publication Type | Journal Article |
Year of Publication | 2022 |
Authors | Kolesnikova, Masha, de Carvalho Jose Ronaldo Li, Parmann Rait, Kim Angela H., Mahajan Vinit B., Tsang Stephen H., and Sparrow Janet R. |
Journal | Mol Genet Genomic Med |
Volume | 10 |
Issue | 11 |
Pagination | e2038 |
Date Published | 2022 Nov |
ISSN | 2324-9269 |
Keywords | Atrophy, Child, cis-trans-Isomerases, Female, Humans, Leber Congenital Amaurosis, Mutation, Retinal Degeneration |
Abstract | INTRODUCTION: 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). CASE REPORT: 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. DISCUSSION: This case report demonstrates acquisition of fundus autofluorescence at 6- and 8-year follow-up despite the development of chorioretinal atrophy. |
DOI | 10.1002/mgg3.2038 |
Alternate Journal | Mol Genet Genomic Med |
PubMed ID | 36225124 |
PubMed Central ID | PMC9651599 |
Grant List | P30 EY026877 / EY / NEI NIH HHS / United States R21AG050437 / NH / NIH HHS / United States R24EY027285 / NH / NIH HHS / United States R01EY09076 / NH / NIH HHS / United States 5P30CA013696 / NH / NIH HHS / United States P30EY026877 / NH / NIH HHS / United States R01 EY031952 / NH / NIH HHS / United States R01EY026682 / NH / NIH HHS / United States R01EY024698 / NH / NIH HHS / United States U54OD020351 / NH / NIH HHS / United States EY024091 / NH / NIH HHS / United States R01EY018213 / NH / NIH HHS / United States R24EY028758 / NH / NIH HHS / United States P30 EY019007 / EY / NEI NIH HHS / United States R01 EY030151 / NH / NIH HHS / United States 5P30EY019007 / NH / NIH HHS / United States U01 EY030580 / NH / NIH HHS / United States |