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

Abstract

Mutations in the <i>RPE65</i> gene, associated with Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa, gained growing attention since gene therapy for patients with <i>RPE65</i>-associated retinal dystrophy is available in clinical practice. <i>RPE65</i> gene accounts for a very small proportion of patients with inherited retinal degeneration, especially Asian patients. Because <i>RPE65</i>-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 <i>RPE65</i>-associated retinal dystrophy, which makes a diagnostic difficulty. The aim of this paper is to review the epidemiology of <i>RPE65</i>-associated retinal dystrophy, mutation spectrum, genetic diagnosis, clinical characteristics, and voretigene neparvovec, a gene therapy product for the treatment of <i>RPE65</i>-related retinal dystrophy.