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CC BY-NC-ND 4.0 · Klin Monbl Augenheilkd 2024; 241(03): 272-274
DOI: 10.1055/a-2280-1536
Der interessante Fall

A Mild Form of RPE65-Associated Retinopathy

Milde Präsentation einer RPE65-assoziierten Retinopathie
Sandrine H. Künzel
1   University Eye Hospital Bonn, Germany
,
Philipp Rating
2   Department of Ophthalmology, University Hospital Essen, Germany
,
Marlene Saßmannshausen
1   University Eye Hospital Bonn, Germany
,
Frank G. Holz
1   University Eye Hospital Bonn, Germany
,
Philipp Herrmann
1   University Eye Hospital Bonn, Germany
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Introduction

Biallelic mutations in RPE65 give rise to a spectrum of retinal phenotypes ranging from Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) to juvenile retinitis pigmentosa (RP) [1], [2].

Since 2017, voretigene neparvovec (VN) has offered the first approved gene therapy in ophthalmology for patients with biallelic mutations in RPE65, representing a milestone in ophthalmic therapy for inherited retinal dystrophies (IRDs) [3].

We present a rare case of a 42-year-old male with biallelic RPE65 mutations, exhibiting an unusually mild phenotype, questioning the decision for or against subretinal gene therapy under these circumstances.



Publication History

Received: 25 November 2023

Accepted: 19 February 2024

Article published online:
20 March 2024

© 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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