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ARVO Annual Meeting Abstract June 2020

A novel treatment of OPA1 splice defects by U1 snRNA adaptions in a DOA mouse model and patient-derived cells

Christoph Jüschke; Sebastian Swirski; Thomas Klopstock klopstock; Bernd Wissinger; John Per Neidhardt

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1916. doi:

ARVO Annual Meeting Abstract June 2020

Deep-intronic variants in CNGB3 are an important cause of CNGB3 -related autosomal recessive achromatopsia

Susanne Kohl; Marc Sturm; Britta Baumann; Bernd Wissinger; Nicole Weisschuh

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2392. doi:

ARVO Annual Meeting Abstract July 2019

ABCA4 -associated disease as a model for missing heritability in autosomal recessive disorders: novel non-coding splice, cis -regulatory, structural and recurrent hypomorphic variants

Miriam Bauwens; Alex Garanto; Riccardo Sangermano; Sarah Naessens; Nicole Weisschuh; Julie De Zaeytijd; Mubeen Khan; Françoise Sadler; Susanne Kohl; Bernd Wissinger; timothy cherry; Rob W J Collin; Frans P Cremers; Bart P Leroy; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):377. doi:

ARVO Annual Meeting Abstract July 2019

Digenic triallelic inheritance in cone photoreceptor cyclic nucleotide gated channel associated retinopathies

Susanne Kohl; Markus Burkard; Timm Kraetzig; Naoyuki Tanimoto; Britta Baumann; Martin Biel; Robert Lukowski; Mathias W Seeliger; Stylianos Michalakis; Bernd Wissinger; Peter Ruth

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):419. doi:

ARVO Annual Meeting Abstract July 2019

CPH1, a new gene for Dominant Optic Atrophy

Cecile Delettre Cribaillet; Camille Mégy; Xavier Zanlonghi; Isabelle Anne Meunier; Marie O Pequignot; Mélanie Quiles; Christian Hamel; Agathe Roubertie; Nicole Weisschuh; Béatrice Bocquet; Guy Lenaers; Gael Manes; Bernd Wissinger; Maria Solà Vilarrubias; Hans Spelbrink; Emmanuelle Sarzi

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2811. doi:

ARVO Annual Meeting Abstract July 2019

Effects of Subretinal AAV8 Gene Therapy on Microperimetry in CNGA3 Achromatopsia Patients

G. Alex Ochakovski; Ahmad Zhour; Laura Kuehlewein; Susanne Kohl; Andrea Rindtorff; Karl Ulrich Bartz-Schmidt; Marius Ueffing; Eberhart Zrenner; Stylianos Michalakis; Martin Biel; Bernd Wissinger; Tobias Peters; Barbara Wilhelm; M. Dominik Fischer

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2921. doi:

Retina December 2018

Blue Cone Monochromacy Caused by the C203R Missense Mutation or Large Deletion Mutations

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Alexander Sumaroka; Alexandra V. Garafalo; Artur V. Cideciyan; Jason Charng; Alejandro J. Roman; Windy Choi; Supna Saxena; Valeryia Aksianiuk; Susanne Kohl; Bernd Wissinger; Samuel G. Jacobson
TAGS: genotype, missense mutation, mutation, retinal cone, cohort studies
Invest. Ophthalmol. Vis. Sci.. 2018; 59(15):5762-5772. doi: https://doi.org/10.1167/iovs.18-25280

ARVO Annual Meeting Abstract July 2018

Copy number variations in CNGB3 -linked autosomal recessive achromatopsia

Susanne Kohl; Anja K. Mayer; caroline Van Cauwenbergh; Christine Rother; Britta Baumann; Peggy Reuter; Elfride De Baere; Bernd Wissinger

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):6044. doi:

ARVO Annual Meeting Abstract July 2018

Phenotypic heterogeneity of retinal degenerations caused by mutations in CRX examined by multimodal clinical imaging including adaptive optics retinal camera

Katarina Stingl; Laura Kuehlewein; Melanie Kempf; Francoise Sadler; Fadi Nasser; Bernd Wissinger; Susanne Kohl; Nicole Weisschuh; Marius Ueffing; Eberhart Zrenner

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1516. doi:

ARVO Annual Meeting Abstract July 2018

First Gene Supplementation Therapy for CNGA3-linked Achromatopsia

M Dominik Fischer; Stylianos Michalakis; Barbara Wilhelm; Nadine Kahle; Tobias Peters; Karl Ulrich Bartz-Schmidt; Susanne Kohl; Mathias W Seeliger; Nicole Weisschuh; Ditta Zobor; Eberhart Zrenner; Marius Ueffing; Martin Biel; Bernd Wissinger

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2982. doi:

Retina April 2018

Humoral Immune Response After Intravitreal But Not After Subretinal AAV8 in Primates and Patients

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Felix F. Reichel; Tobias Peters; Barbara Wilhelm; Martin Biel; Marius Ueffing; Bernd Wissinger; Karl U. Bartz-Schmidt; Reinhild Klein; Stylianos Michalakis; M. Dominik Fischer; for the RD-CURE Consortium

Invest. Ophthalmol. Vis. Sci.. 2018; 59(5):1910-1915. doi: https://doi.org/10.1167/iovs.17-22494

Includes: Supplemental Content

Retina November 2017

Superior Retinal Gene Transfer and Biodistribution Profile of Subretinal Versus Intravitreal Delivery of AAV8 in Nonhuman Primates

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Immanuel P. Seitz; Stylianos Michalakis; Barbara Wilhelm; Felix F. Reichel; G. Alex Ochakovski; Eberhart Zrenner; Marius Ueffing; Martin Biel; Bernd Wissinger; Karl U. Bartz-Schmidt; Tobias Peters; M. Dominik Fischer; for the RD-CURE Consortium
TAGS: cohort studies, disease vectors, dna, gene transfer techniques, genome, injections, primates, spatial vectors, body tissue, surgical procedures, operative
Invest. Ophthalmol. Vis. Sci.. 2017; 58(13):5792-5801. doi: https://doi.org/10.1167/iovs.17-22473

Includes: Supplemental Content

Retina August 2017

Subretinal Injection for Gene Therapy Does Not Cause Clinically Significant Outer Nuclear Layer Thinning in Normal Primate Foveae

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G. Alex Ochakovski; Tobias Peters; Stylianos Michalakis; Barbara Wilhelm; Bernd Wissinger; Martin Biel; K. Ulrich Bartz-Schmidt; M. Dominik Fischer; for the RD-CURE Consortium
TAGS: gene therapy, injections, primates, safety, serotonin uptake inhibitors, retina, eye, surgical procedures, operative
Invest. Ophthalmol. Vis. Sci.. 2017; 58(10):4155-4160. doi: https://doi.org/10.1167/iovs.17-22402

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

Uniparental isodisomy of chromosome 2 in CNGA3 -associated achromatopsia

Susanne Kohl; Britta Baumann; Anja-Kathrin Mayer; Bernd Wissinger

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2782. doi:

ARVO Annual Meeting Abstract June 2017

Preclinical evaluation of rAAV8.CNGA3 in the Cnga3 knockout mouse model of ACHM2

Stylianos Michalakis; Christian Schön; Regine Mühlfriedel; Vithiyanjali Sothilingam; Bernd Wissinger; Mathias W Seeliger; Martin Biel

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4499. doi:

ARVO Annual Meeting Abstract June 2017

Preclinical evaluation of rAAV8.PDE6A in the Pde6a D670G mutant mouse model of RP43

Christian Schön; Regine Mühlfriedel; Vithiyanjali Sothilingam; Francois Paquet-Durand; Bernd Wissinger; Mathias W Seeliger; Martin Biel; Stylianos Michalakis

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4500. doi:

ARVO Annual Meeting Abstract June 2017

How do patients rate their subjective symptoms after CNGA3 gene therapy: First application of the instrument A3-PRO

Barbara Wilhelm; Andreas Koegel; Nadine Kahle; Tobias Peters; Stylianos Michalakis; Martin Biel; Mathias Seeliger; Eberhart Zrenner; Bernd Wissinger; Susanne Kohl; Marius Ueffing; Karl Ulrich Bartz-Schmidt; Dominik M Fischer; Ditta Zobor

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4678. doi:

ARVO Annual Meeting Abstract June 2017

Genetic heritability and associations of Pigmentary Glaucoma

Mark James Simcoe; Abhishek Nag; Ekaterina Yonova; Katie M Williams; Bernd Wissinger; Christopher J Hammond; Nicole Weisschuh; Pirro G Hysi

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):186. doi:

Visual Neuroscience February 2017

The Clinical Phenotype of CNGA3 -Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial

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Ditta Zobor; Annette Werner; Franco Stanzial; Francesco Benedicenti; Günther Rudolph; Ulrich Kellner; Christian Hamel; Sten Andréasson; Gergely Zobor; Torsten Strasser; Bernd Wissinger; Susanne Kohl; Eberhart Zrenner; for the RD-CURE Consortium
TAGS: achromatopsia, genes, vif, phenotype, psychophysics, retinal cone, electroretinography, rod photoreceptors, atrophy, electrophysiology
Invest. Ophthalmol. Vis. Sci.. 2017; 58(2):821-832. doi: https://doi.org/10.1167/iovs.16-20427

Includes: Supplemental Content

ARVO Annual Meeting Abstract September 2016

Functional Diversity of Human ATF6 Mutations Associated with Achromatopsia

Wei-Chieh Chiang; Priscilla Chan; Susanne Kohl; Ajoy Vincent; Anna Skorczyk-Werner; Maciej Robert Krawczynski; Stephen H Tsang; Elise Heon; Bernd Wissinger; Jonathan H Lin

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3183. doi:

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A novel treatment of OPA1 splice defects by U1 snRNA adaptions in a DOA mouse model and patient-derived cells

Deep-intronic variants in CNGB3 are an important cause of CNGB3 -related autosomal recessive achromatopsia

ABCA4 -associated disease as a model for missing heritability in autosomal recessive disorders: novel non-coding splice, cis -regulatory, structural and recurrent hypomorphic variants

Digenic triallelic inheritance in cone photoreceptor cyclic nucleotide gated channel associated retinopathies

CPH1, a new gene for Dominant Optic Atrophy

Effects of Subretinal AAV8 Gene Therapy on Microperimetry in CNGA3 Achromatopsia Patients

Blue Cone Monochromacy Caused by the C203R Missense Mutation or Large Deletion Mutations

Copy number variations in CNGB3 -linked autosomal recessive achromatopsia

Phenotypic heterogeneity of retinal degenerations caused by mutations in CRX examined by multimodal clinical imaging including adaptive optics retinal camera

First Gene Supplementation Therapy for CNGA3-linked Achromatopsia

Humoral Immune Response After Intravitreal But Not After Subretinal AAV8 in Primates and Patients

Superior Retinal Gene Transfer and Biodistribution Profile of Subretinal Versus Intravitreal Delivery of AAV8 in Nonhuman Primates

Subretinal Injection for Gene Therapy Does Not Cause Clinically Significant Outer Nuclear Layer Thinning in Normal Primate Foveae

Uniparental isodisomy of chromosome 2 in CNGA3 -associated achromatopsia

Preclinical evaluation of rAAV8.CNGA3 in the Cnga3 knockout mouse model of ACHM2

Preclinical evaluation of rAAV8.PDE6A in the Pde6a D670G mutant mouse model of RP43

How do patients rate their subjective symptoms after CNGA3 gene therapy: First application of the instrument A3-PRO

Genetic heritability and associations of Pigmentary Glaucoma

The Clinical Phenotype of CNGA3 -Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial

Functional Diversity of Human ATF6 Mutations Associated with Achromatopsia

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