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KMID : 0213520230370020166
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Korean Journal of Ophthalmology
2023 Volume.37 No. 2 p.166 ~ p.186
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Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee
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Han Jin-U
Joo Kwang-Sic
Kim Ung-Soo
Woo Se-Joon
Lee Eun-Kyoung
Lee Joo-Yong
Park Tae-Kwann
Kim Sang-Jin
Byeon Suk-Ho
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Abstract
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Mutations in the RPE65 gene, associated with Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitispigmentosa, gained growing attention since gene therapy for patients with RPE65-associated retinal dystrophy is available inclinical practice. RPE65 gene accounts for a very small proportion of patients with inherited retinal degeneration, especiallyAsian patients. Because RPE65-associated retinal dystrophy shares common clinical characteristics, such as early-onset severenyctalopia, nystagmus, low vision, and progressive visual field constriction, with retinitis pigmentosa by other geneticmutations, appropriate genetic testing is essential to make a correct diagnosis. Also, fundus abnormalities can be minimal inearly childhood, and the phenotype is highly variable depending on the type of mutations in RPE65-associated retinal dystrophy,which makes a diagnostic difficulty. The aim of this paper is to review the epidemiology of RPE65-associated retinaldystrophy, mutation spectrum, genetic diagnosis, clinical characteristics, and voretigene neparvovec, a gene therapy productfor the treatment of RPE65-related retinal dystrophy.
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KEYWORD
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Inherited retinal dystrophies, Leber congenital amaurosis, Retinitis pigmentosa, RPE65 gene, Voretigene neparvovec
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