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ARVO Annual Meeting Abstract June 2022

DNAJC30 disease-causing gene variants in a large Central European cohort of patients with inherited optic atrophy

Ting XIAO; Sinja Kieninger; Nicole Weisschuh; Susanne Kohl; Klaus Rüther; Peter Kroisel; Tobias Brockmann; Steffi Knappe; Ulrich Kellner; Wolf Lagrèze; Pascale Mazzola; Tobias Haack; Bernd Wissinger; Felix Tonagel

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1211 – A0211. doi:

ARVO Annual Meeting Abstract June 2022

Effective splicing restoration of a deep-intronic ABCA4 variant in cone photoreceptor precursor cells by CRISPR/Cas9

Pietro De Angeli; Peggy Reuter; Katarina Stingl; Bernd Wissinger; Susanne Kohl

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2587 – F0470. doi:

ARVO Annual Meeting Abstract June 2022

Central Visual Function and Genotype-Phenotype Correlations in PDE6A -Associated Retinitis Pigmentosa in Preparation for a Gene Supplemental Trial

Ditta Zobor; Torsten Strasser; Gunnar Blumenstock; Katarina Stingl; M. Dominik Fischer; Barbara Wilhelm; Eberhart Zrenner; Bernd Wissinger; Susanne Kohl; Nicole Weisschuh; Laura Kuehlewein

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4499 – F0286. doi:

ARVO Annual Meeting Abstract June 2022

Adaptive optics ophthalmoscopy in retinitis pigmentosa: typical patterns

Friederike Charlotte Kortuem; Melanie Kempf; Laura Kuehlewein; Fadi Nasser; Constanze Kortuem; Susanne Kohl; Michel Paques; Bernd Wissinger; Marius Ueffing; Eberhart Zrenner; Katarina Stingl

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4439 – F0118. doi:

Genetics May 2022

Central Visual Function and Genotype–Phenotype Correlations in PDE6A -Associated Retinitis Pigmentosa

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Laura Kuehlewein; Torsten Straßer; Gunnar Blumenstock; Katarina Stingl; M. Dominik Fischer; Barbara Wilhelm; Eberhart Zrenner; Bernd Wissinger; Susanne Kohl; Nicole Weisschuh; Ditta Zobor; for the RD-CURE Consortium
TAGS: genotype, genotype-phenotype associations, pde6a gene, phenotype, retinitis pigmentosa, vision, color vision, genetics, eye
Invest. Ophthalmol. Vis. Sci.. 2022; 63(5):9. doi: https://doi.org/10.1167/iovs.63.5.9

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

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:

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:

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

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:

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:

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DNAJC30 disease-causing gene variants in a large Central European cohort of patients with inherited optic atrophy

Effective splicing restoration of a deep-intronic ABCA4 variant in cone photoreceptor precursor cells by CRISPR/Cas9

Central Visual Function and Genotype-Phenotype Correlations in PDE6A -Associated Retinitis Pigmentosa in Preparation for a Gene Supplemental Trial

Adaptive optics ophthalmoscopy in retinitis pigmentosa: typical patterns

Central Visual Function and Genotype–Phenotype Correlations in PDE6A -Associated Retinitis Pigmentosa

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

CPH1, a new gene for Dominant Optic Atrophy

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

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

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

Genetic heritability and associations of Pigmentary Glaucoma

Uniparental isodisomy of chromosome 2 in CNGA3 -associated achromatopsia

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