An Atypical Mild Phenotype of Autosomal Recessive RPE65-Associated Retinitis Pigmentosa-Reference-Cited by-同舟云学术

An Atypical Mild Phenotype of Autosomal Recessive RPE65-Associated Retinitis Pigmentosa

Published:2024-03 Issue:03 Volume:241 Page:266-271
ISSN:0023-2165
Container-title:Klinische Monatsblätter für Augenheilkunde
language:de
Short-container-title:Klin Monbl Augenheilkd

Author:

Merle David Adrian¹²³,Kohl Susanne²,Reith Milda¹,Schäferhoff Karin²,Zuleger Theresia²,Stühn Lara²,Stingl Krunoslav¹⁴,Kempf Melanie¹⁴,Kühlewein Laura¹²,Grasshoff Ute²,Stingl Katarina¹⁴

Affiliation:

1. Department of Ophthalmology, University Eye Hospital Tübingen, Germany

2. Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Germany

3. Department of Ophthalmology, Medical University of Graz, Austria

4. Center for Rare Eye Diseases, Eberhard Karls University of Tübingen, Germany

Publisher

Georg Thieme Verlag KG

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/a-2264-5480.pdf

Reference21 articles.

1. Retinal pigment epithelium 65 kDa protein (RPE65): An update;P D Kiser;Prog Retin Eye Res,2022

2. RPE65 and the Accumulation of Retinyl Esters in Mouse Retinal Pigment Epithelium;C Sheridan;Photochem Photobiol,2017

3. Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions;N Kumaran;Br J Ophthalmol,2017

4. Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial;S Russell;Lancet,2017

5. The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene;D C Chung;Am J Ophthalmol,2019

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