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Short-Term Outcomes of the First in Vivo Gene Therapy for RPE65-Mediated Retinitis Pigmentosa

Authors
 Jay Jiyong Kwak  ;  Hae Rang Kim  ;  Suk Ho Byeon 
Citation
 YONSEI MEDICAL JOURNAL, Vol.63(7) : 701-705, 2022-07 
Journal Title
YONSEI MEDICAL JOURNAL
ISSN
 0513-5796 
Issue Date
2022-07
MeSH
Adult ; Female ; Genetic Therapy ; Humans ; Leber Congenital Amaurosis* / genetics ; Leber Congenital Amaurosis* / therapy ; Mutation ; Retinitis Pigmentosa* / genetics ; Retinitis Pigmentosa* / therapy ; cis-trans-Isomerases / genetics
Keywords
Retinitis pigmentosa ; gene therapy ; hereditary eye disease ; leber congenital amaurosis
Abstract
Here, we report early treatment outcomes of gene therapy for early onset retinitis pigmentosa (RP) (Leber congenital amaurosis) associated with biallelic RPE65 mutation in a 30-year-old female patient. Initially, her visual acuity (VA) was 20/200, and her visual field (VF) was severely constricted to the center in the left eye. Her electroretinography showed nearly extinct signals. Full-field stimulus threshold test (FST) revealed diminished dark-adapted light sensitivity. Voretigene neparvovec-rzyl (VN) is the first in vivo viral gene therapy agent to be approved. At 3 months after subretinal injection of VN in the left eye, VA, VF, and FST showed sustained improvement. She did not exhibit any signs of adverse effects from the treatment. Gene therapy for RP proved to be an effective and safe treatment in an advanced case of RPE65-associatied early onset RP.
Files in This Item:
T202202460.pdf Download
DOI
10.3349/ymj.2022.63.7.701
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers
Yonsei Authors
Kwak, Jiyong(곽지용) ORCID logo https://orcid.org/0000-0002-7738-9136
Byeon, Suk Ho(변석호) ORCID logo https://orcid.org/0000-0001-8101-0830
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/189422
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