Korean J Ophthalmol.  2023 Apr;37(2):166-186. 10.3341/kjo.2023.0008.

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

• Han J
• Joo K
• Kim US
• Woo SJ
• Lee EK
• Lee JY
• Park TK
• Kim SJ
• Byeon SH
• on behalf of the Korea RPE65-IRD Consensus Paper Committee

• KMID: 2541295
• DOI: http://doi.org/10.3341/kjo.2023.0008

Abstract

Mutations in the RPE65 gene, associated with Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa, gained growing attention since gene therapy for patients with RPE65-associated retinal dystrophy is available in clinical practice. RPE65 gene accounts for a very small proportion of patients with inherited retinal degeneration, especially Asian patients. Because RPE65-associated retinal dystrophy shares common clinical characteristics, such as early-onset severe nyctalopia, nystagmus, low vision, and progressive visual field constriction, with retinitis pigmentosa by other genetic mutations, appropriate genetic testing is essential to make a correct diagnosis. Also, fundus abnormalities can be minimal in early 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 retinal dystrophy, mutation spectrum, genetic diagnosis, clinical characteristics, and voretigene neparvovec, a gene therapy product for the treatment of RPE65-related retinal dystrophy.

Keyword

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