| Autor: |
Masha Kolesnikova, Jose Ronaldo Lima de Carvalho Jr., Rait Parmann, Angela H. Kim, Vinit B. Mahajan, Stephen H. Tsang, Janet R. Sparrow |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Molecular Genetics & Genomic Medicine, Vol 10, Iss 11, Pp n/a-n/a (2022) |
| Druh dokumentu: |
article |
| ISSN: |
2324-9269 |
| DOI: |
10.1002/mgg3.2038 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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