RPE65-assoziierte Netzhautdystrophie: Gentherapie kann das Sehen verbessern

Gerhardt, Maximilian-Joachim; Michalakis, Stylianos; Rudolph, Günther; Priglinger, Claudia; Priglinger, Siegfried

doi:10.1007/s15006-022-0765-7

Cited by 1 publication

(2 citation statements)

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“…But in the two remaining patients (4 and 5 years old at last examination, respectively), there were small but reproducible 30 Hz flicker amplitudes in one of the treated eyes. Although the retest variability cannot fully be ruled out, this provided first evidence that VN may elicit partial recovery of a previously unrecordable ERG 34 . Morphological proof of the treatment effect is possible in some cases as well, although the most prominent proof of treatment effects remains the rod functional rescue.…”

Section: Measurement Of Treatment Success After Voretigene Neparvovecmentioning

confidence: 83%

“…ERG provides an objective readout for both rod and cone function, irrespective of the cooperation of the subject. From the Briard dog model, recovery in ERG recordings could be expected, but, to date, there are only single reports of improved ERG after RPE65 gene therapy in humans [34,35]. Several attempts have been made to explain this phenomenon.…”

Section: Experiences With the Treatment Efficacymentioning

confidence: 99%

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

Stingl,

Priglinger,

Herrmann

2024

Klin Monbl Augenheilkd

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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.

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Section: Measurement Of Treatment Success After Voretigene Neparvovecmentioning

confidence: 83%

Section: Experiences With the Treatment Efficacymentioning

confidence: 99%