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Article

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

Molecular genetics & genomic medicine - 1 Nov 2022

Kolesnikova Masha, Lima de Carvalho Jose Ronaldo, Parmann Rait, Kim Angela H, Mahajan Vinit B, Tsang Stephen H, Sparrow Janet R

Abstract excerpt

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...

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Identifiers

PMID: 36225124
DOI: 10.1002/mgg3.2038
PMCID: PMC9651599

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