RPE65-Associated Retinal Dystrophies: Phenotypes and Treatment Effects with Voretigene Neparvovec

Abstract

Retinal dystrophies linked to the RPE65 gene are mostly fast-progressing retinal diseases, with childhood onset of night blindness and progressive visual loss up to the middle adult age. Rare phenotypes linked to this gene are known with congenital stationary night blindness or slowly progressing retinitis pigmentosa, as well as an autosomal dominant c.1430A>G (p.Asp477Gly) variant. This review gives an overview of the current knowledge of the clinical phenotypes, as well as experience with the efficacy and safety of the approved gene augmentation therapy voretigene neparvovec.

Zusammenfassung

Netzhautdystrophien durch Mutationen im Gen RPE65 sind meistens schnell fortschreitende Netzhauterkrankungen mit Erstmanifestation im Kindesalter und progredientem Sehverlust im mittleren Lebensalter. Seltene RPE65-Phänotypen sind ebenfalls bekannt, wie kongenitale stationäre Nachtblindheit oder langsam fortschreitende Retinitis pigmentosa, sowie die autosomal-dominante Variante c.1430A>G (p.Asp477Gly). Der Übersichtsartikel beschreibt das aktuelle Wissen um diese Krankheitsbilder sowie die klinischen Erfahrungen mit Wirksamkeit und Sicherheit der zugelassenen Gentherapie Voretigen Neparvovec.

Key words

retinal dystrophy - retinitis pigmentosa - voretigene neparvovec - genotype-phenotype correlation - RPE65 - gene therapy

Schlüsselwörter

Netzhautdystrophie - Voretigen Neparvovec - Gentherapie - RPE65 - Genotyp-Phänotyp-Korrelation - Retinitis pigmentosa

Publication History

Received: 20 September 2023

Accepted: 04 December 2023

Article published online:
20 March 2024

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