Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee

• 영문명: Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee
• 발행기관: 대한안과학회
• 저자명: Jinu Han Kwangsic Joo Ungsoo Samuel Kim Se Joon Woo Eun Kyoung Lee Joo Yong Lee Tae Kwann Park
• 간행물 정보: 『The Korean Journal of Ophthalmology』Vol.37 No.2, 166~186쪽, 전체 21쪽
• 주제분류: 의약학 > 의학일반
• 파일형태: PDF
• 발행일자: 2023.04.30

영문 초록

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.

목차

Introduction

Epidemiology of RPE65-associated Retinal Dystrophy

Molecular Background of RPE65-associated Retinal Dystrophy

Genetic Testing for RPE65-associated Retinal Dystrophy

Clinical Diagnosis and Characteristics in RPE65-associated Retinal Dystrophy

Voretigene Neparvovec

Eligibility for VN Treatment

Retinal Gene Therapy with VN

Real-world Evidence

Conclusion

References

키워드

Inherited retinal dystrophies Leber congenital amaurosis Retinitis pigmentosa RPE65 gene Voretigene neparvovec