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ARVO Annual Meeting Abstract June 2024

Molecular genetic characterization of patients with inherited retinal diseases in Hungary: solving mysteries

Ji Hoon Han; András Végh; Mathieu Quinodoz; Dominik Dobos; Rita Vámos; Ágnes Takács; Krisztina Knézy; Balázs Lesch; Barbara Besztercei; Zoltán Zsolt Nagy; Balázs Varsányi; Mirella Telles Salgueiro Barboni; Ditta Zobor; Viktória Szabó; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4658.

ARVO Annual Meeting Abstract June 2024

Sine-wave flicker ERG changes associated with On- and Off-bipolar cell asymmetries

Mirella Telles Salgueiro Barboni; Ditta Zobor; Viktoria Szabo; Barbara Besztercei; Balazs Lesch; Balazs Laszlo Varsanyi; Zoltan Zsolt Nagy; Cord R H Huchzermeyer; Dora Fix Ventura; Jan J Kremers

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5875.

ARVO Annual Meeting Abstract June 2024

The diagnostic usefulness of electroretinography (ERG) measurements in congenital PAX6 -aniridia

Ditta Zobor; Krisztina Knézy; Andrea Szigeti; Mária Csidey; Kitti Kormányos; Ágnes Élö; Annamária Náray; Dorottya Szabó; Zoltan Zsolt Nagy; Eszter Jávorszky; Kálmán Tory; Marta Corton; Erika Maka; Mirella Telles Salgueiro Barboni; Nora Szentmary

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5863.

ARVO Annual Meeting Abstract June 2024

Genetic and Clinical Profile of X-linked retinitis pigmentosa (XLRP) in Hungary

Barbara Besztercei; Rita Vámos; Krisztina Knézy; Mirella Telles Salgueiro Barboni; Zoltan Zsolt Nagy; Ágnes Takács; Péter Takács; András Végh; Balazs Lesch; Viktoria Szabo; Ditta Zobor

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5271.

ARVO Annual Meeting Abstract June 2023

Retinoschisin-1 (RS1) is required for proper functioning of luminance and red–green cone-opponent mechanisms

Ditta Zobor; Barbara Besztercei; Balazs Lesch; J. Jason McAnany; Jason C Park; Mirella Telles Salgueiro Barboni; Jan J Kremers

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):5417.

ARVO Annual Meeting Abstract June 2023

Cone-opponent and luminance responses measured with electroretinography in congenital color vision deficiency (CCVD)

Maximilian Rippberger; Barbara Besztercei; Balazs Nagy; Mirella Telles Salgueiro Barboni; Jan J Kremers; Ditta Zobor

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):5242.

ARVO Annual Meeting Abstract June 2023

Assessment of macular function and structure in X-linked juvenile retinoschisis: male and female characteristics

Barbara Besztercei; Mirella Telles Salgueiro Barboni; J. Jason McAnany; Jason C Park; Balázs Lesch; Ditta Zobor

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):5241.

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.

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. https://doi.org/10.1167/iovs.63.5.9

ARVO Annual Meeting Abstract July 2018

CEP290 mutation spectrum in Germany and delineation of the associated phenotype

Ditta Zobor; Britta Feldhaus; Nicole Weisschuh; Fadi Nasser; Eberhart Zrenner; Susanne Kohl

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):23.

ARVO Annual Meeting Abstract July 2018

Leber congenital amaurosis (LCA): Prevalence of mutations in a large German cohort and clinical characterization of the associated phenotype

Britta Feldhaus; Susanne Kohl; Nicole Weisschuh; Fadi Nasser; Eberhart Zrenner; Ditta Zobor

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1832.

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.

Retina June 2018

Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort

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Ditta Zobor; Gergely Zobor; Stephanie Hipp; Britta Baumann; Nicole Weisschuh; Saskia Biskup; Ieva Sliesoraityte; Eberhart Zrenner; Susanne Kohl
TAGS: cohort studies, genes, german, mutation, phenotype, spectral domain-optical coherence tomography, heterozygote, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2018; 59(7):3041-3052. https://doi.org/10.1167/iovs.18-24033

ARVO Annual Meeting Abstract June 2017

Genotype-phenotype correlations in patients with Usher syndrome type 2 harboring mutations in USH2A and ADGRV1

Marko Hawlina; Ana Fakin; Crystel Bonnet; Anne Kurtenbach; Saddek Mohand-Said; Ditta Zobor; Martina Jarc-Vidmar; Katarina Stingl; Francesco Testa; Francesca Simonelli; José Alain sahel; Isabelle S Audo; Eberhart Zrenner; Christine Petit

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3227.

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.

Eye Movements, Strabismus, Amblyopia and Neuro-ophthalmology February 2017

Development of a Chromatic Pupillography Protocol for the First Gene Therapy Trial in Patients With CNGA3 -Linked Achromatopsia

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Jolanta Lisowska; Lukasz Lisowski; Carina Kelbsch; Fumiatsu Maeda; Paul Richter; Susanne Kohl; Ditta Zobor; Torsten Strasser; Krunoslav Stingl; Eberhart Zrenner; Tobias Peters; Helmut Wilhelm; M. Dominik Fischer; Barbara Wilhelm; for the RD-CURE Consortium
TAGS: achromatopsia, gene therapy, pupil reaction, dark adaptation, retinal cone, light, lighting, rod photoreceptors, pupil, cornea
Invest. Ophthalmol. Vis. Sci.. 2017; 58(2):1274-1282. https://doi.org/10.1167/iovs.16-20505

Includes: Supplemental Content

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. https://doi.org/10.1167/iovs.16-20427

Includes: Supplemental Content

ARVO Annual Meeting Abstract September 2016

Clinical characterization and genotype-phenotype correlations in PDE6A -related retinitis pigmentosa

Ditta Zobor; Laura Kühlewein; Nicole Weisschuh; Christian P Hamel; Bart Peter Leroy; Sten Andreasson; Ayuso Carmen; Günther Rudolph; Bernd Wissinger; Susanne Kohl; Eberhart Zrenner

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):152.

ARVO Annual Meeting Abstract September 2016

Successful delivery of rAAV8.CNGA3 in a patient with CNGA3 achromatopsia

M Dominik Fischer; Barbara Wilhelm; Stylianos Michalakis; Ditta Zobor; Susanne Kohl; Matthias Seeliger; Eberhart Zrenner; Marius Ueffing; Bernd Wissinger; Martin Biel; Karl Ulrich Bartz-Schmidt

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12)

ARVO Annual Meeting Abstract June 2015

Chromatic pupillography in patients with Achromatopsia

Jolanta Lisowska; Lucasz Lisowski; Carina Kelbsch; Torsten Strasser; Ditta Zobor; Helmut Wilhelm; Barbara Wilhelm; Tobias Peters; Pupil Research Group, Centre for Ophthalmology, University of Tübingen, Germany

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):575.

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Molecular genetic characterization of patients with inherited retinal diseases in Hungary: solving mysteries

Sine-wave flicker ERG changes associated with On- and Off-bipolar cell asymmetries

The diagnostic usefulness of electroretinography (ERG) measurements in congenital PAX6 -aniridia

Genetic and Clinical Profile of X-linked retinitis pigmentosa (XLRP) in Hungary

Retinoschisin-1 (RS1) is required for proper functioning of luminance and red–green cone-opponent mechanisms

Cone-opponent and luminance responses measured with electroretinography in congenital color vision deficiency (CCVD)

Assessment of macular function and structure in X-linked juvenile retinoschisis: male and female characteristics

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

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

CEP290 mutation spectrum in Germany and delineation of the associated phenotype

Leber congenital amaurosis (LCA): Prevalence of mutations in a large German cohort and clinical characterization of the associated phenotype

First Gene Supplementation Therapy for CNGA3-linked Achromatopsia

Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort

Genotype-phenotype correlations in patients with Usher syndrome type 2 harboring mutations in USH2A and ADGRV1

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

Development of a Chromatic Pupillography Protocol for the First Gene Therapy Trial in Patients With CNGA3 -Linked Achromatopsia

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

Clinical characterization and genotype-phenotype correlations in PDE6A -related retinitis pigmentosa

Successful delivery of rAAV8.CNGA3 in a patient with CNGA3 achromatopsia

Chromatic pupillography in patients with Achromatopsia

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