Klaus Ruther

Berlin, BE 10117, Germany

Last Updated: 09/26/2026

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Found 28 publications

Short-Term Outcomes of Pediatric Patients With Mild Autosomal Recessive RPE65-Associated Retinal Dystrophy Treated With Voretigene Neparvovec.

Short-Term Outcomes of Pediatric Patients With Mild Autosomal Recessive RPE65-Associated Retinal Dystrophy Treated With Voretigene Neparvovec.

Journal: Translational vision science & technology

Published: August 04, 2025

18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.

18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.

Journal: Scientific reports

Published: June 17, 2024

The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.

The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: June 27, 2022

DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy.

DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy.

Journal: Journal of medical genetics

Published: September 20, 2021

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: November 26, 2019

Microstructural retinal changes after pharmacological vitreolysis with ocriplasmin-an SD-OCT supported analysis

Microstructural retinal changes after pharmacological vitreolysis with ocriplasmin-an SD-OCT supported analysis

Journal: Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft

Published: July 27, 2019

Transcorneal Electrical Stimulation for the Treatment of Retinitis Pigmentosa: A Multicenter Safety Study of the OkuStim® System (TESOLA-Study).

Transcorneal Electrical Stimulation for the Treatment of Retinitis Pigmentosa: A Multicenter Safety Study of the OkuStim® System (TESOLA-Study).

Journal: Ophthalmic research

Published: March 26, 2019

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.

Journal: Human mutation

Published: December 17, 2018

Hereditary Optic Neuropathies

Hereditary Optic Neuropathies

Journal: Klinische Monatsblatter fur Augenheilkunde

Published: March 01, 2018

Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.

Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.

Journal: Molecular genetics & genomic medicine

Published: April 26, 2017

Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.

Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.

Journal: Investigative ophthalmology & visual science

Published: January 25, 2017

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.

Journal: Scientific reports

Published: February 03, 2016

Showing 1-12 of 28

Last Updated: 09/26/2026