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Visual Neuroscience October 2023

Achromatopsia—Visual Cortex Stability and Plasticity in the Absence of Functional Cones

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Barbara Molz; Anne Herbik; Heidi A. Baseler; Peter de Best; Noa Raz; Andre Gouws; Khazar Ahmadi; Rebecca Lowndes; Rebecca J. McLean; Irene Gottlob; Susanne Kohl; Lars Choritz; John Maguire; Martin Kanowski; Barbara Käsmann-Kellner; Ilse Wieland; Eyal Banin; Netta Levin; Antony B. Morland; Michael B. Hoffmann
TAGS: achromatopsia, luminance, prolactin-releasing hormone, retinal cone, visual cortex, visual fields, functional magnetic resonance imaging
Invest. Ophthalmol. Vis. Sci.. 2023; 64(13):23. https://doi.org/10.1167/iovs.64.13.23

Includes: Supplemental Content

Retina August 2023

Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa

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Carina Kelbsch; Melanie Kempf; Ronja Jung; Friederike Kortüm; Milda Reith; Laura Kuehlewein; Susanne Kohl; Torsten Strasser; Tobias Peters; Helmut Wilhelm; Barbara Wilhelm; Krunoslav Stingl; Katarina Stingl
TAGS: genotype, pupil, pupil reaction, retinal cone, retinitis pigmentosa, rod photoreceptors, rpe65 protein, cardiac progenitor cells
Invest. Ophthalmol. Vis. Sci.. 2023; 64(11):18. https://doi.org/10.1167/iovs.64.11.18

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2023

Effect of S-cones on the generation of Oscillatory potentials

Giulia Righetti; Melanie Kempf; Susanne Kohl; Katarina Stingl; Krunoslav Stingl

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):5216.

ARVO Annual Meeting Abstract June 2023

Usher syndrome 1C protein harmonin suppresses canonical Wnt-signaling providing novel insights into the pathophysiology of USH1C

Uwe Wolfrum; Jessica Schäfer; Nicole Wenck; Katharina Janik; Joshua Linnert; Vanessa Neumer; Joshua Klein; Katarina Stingl; Susanne Kohl; Nikolai Klymiuk; Kerstin Nagel-Wolfrum

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):421.

ARVO Annual Meeting Abstract June 2023

Safety and Vision Outcomes of subretinal gene supplementation therapy in PDE6A -associated Retinitis pigmentosa

Felix Friedrich Lambert Reichel; Stylianos Michalakis; Dominik M Fischer; laura kuehlewein; Tobias Peters; Susanne Kohl; Karl-Ulrich Bartz-Schmidt; Marius Ueffing; Eberhart Zrenner; Martin Biel; Katarina Stingl; Bernd Wissinger

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):782.

Retina January 2023

Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial

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Abraham A. Mascio; Alejandro J. Roman; Artur V. Cideciyan; Rebecca Sheplock; Vivian Wu; Alexandra V. Garafalo; Alexander Sumaroka; Sydney Pirkle; Susanne Kohl; Bernd Wissinger; Samuel G. Jacobson; John L. Barbur
TAGS: color, color perception, color vision, outcome measures, retinal cone, eye, c statistic
Trans. Vis. Sci. Tech.. 2023; 12(1):25. https://doi.org/10.1167/tvst.12.1.25

Includes: Supplemental Content

Retina August 2022

Longitudinal Evaluation of Changes in Retinal Architecture Using Optical Coherence Tomography in Achromatopsia

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Magdalini Triantafylla; Eleni Papageorgiou; Mervyn G. Thomas; Rebecca McLean; Susanne Kohl; Viral Sheth; Zhanhan Tu; Frank A. Proudlock; Irene Gottlob
TAGS: achromatopsia, follow-up, optical coherence tomography, foveal hypoplasia, charcot-marie-tooth disease, orthodromic circus-movement tachycardia, child, genetics, molecular
Invest. Ophthalmol. Vis. Sci.. 2022; 63(9):6. https://doi.org/10.1167/iovs.63.9.6

Includes: Supplemental Content

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.

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.

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.

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.

ARVO Annual Meeting Abstract June 2022

Multimodal retina examination of patients with CNGA1 retinitis pigmentosa

Milda Reith; Friederike Charlotte Kortuem; Saskia Ott; Pohl Lisa; Melanie Kempf; Stylianos Michalakis; Susanne Kohl; Katarina Stingl; Krunoslav Stingl

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4486 – F0273.

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

Retina March 2022

Evaluation of Local Rod and Cone Function in Stargardt Disease

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Krunoslav Stingl; Carel Hoyng; Melanie Kempf; Susanne Kohl; Ronja Jung; Giulia Righetti; Laura Kühlewein; Lisa Pohl; Friederike Kortüm; Carina Kelbsch; Barbara Wilhelm; Tobias Peters; Katarina Stingl; on behalf of the SORAPRAZAN consortium
TAGS: cardiac progenitor cells, pupil reaction, retinal cone, rod photoreceptors, stargardt's disease, constriction procedure
Invest. Ophthalmol. Vis. Sci.. 2022; 63(3):6. https://doi.org/10.1167/iovs.63.3.6

Vision Sciences Society Annual Meeting Abstract September 2021

Visual cortex stability and plasticity in the absence of functional cones in achromatopsia

Michael B. Hoffmann; Barbara Molz; Anne Herbik; Peter de Best; Noa Raz; Andre Gouws; Khazar Ahmadi; Rebecca Lowndes; Rebecca McLean; Susanne Kohl; Irene Gottlob; Lars Choritz; John Maguire; Martin Kanowski; Barbara Käsmann-Kellner; Ilse Wieland; Eyal Banin; Netta Levine; Heidi Basler; Morland Antony

Journal of Vision. 2021; 21(9):2062. https://doi.org/10.1167/jov.21.9.2062

Vision Sciences Society Annual Meeting Abstract September 2021

Anatomical changes to primary visual cortex in the congenital absence of cone input

Barbara Molz; Anne Herbik; Heidi Baseler; Pieter B. de Best; Richard Vernon; Noa Raz; André Gouws; Khazar Ahmadi; Rebecca Lowndes; Rebecca J. McLean; Irene Gottlob; Susanne Kohl; Lars Choritz; John Maguire; Martin Kanowski; Barbara Käsmann-Kellner; Ilse Wieland; Eyal Banin; Netta Levin; Michael B. Hoffmann; Antony Morland

Journal of Vision. 2021; 21(9):2362. https://doi.org/10.1167/jov.21.9.2362

ARVO Annual Meeting Abstract June 2021

Short term morphological rescue of the fovea after gene therapy with voretigene neparvovec

Friederike Charlotte Kortuem; Melanie Kempf; Ronja Jung; Susanne Kohl; Constanze Kortum; Saskia Ott; Krunoslav Stingl; Katarina Stingl

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3303.

ARVO Annual Meeting Abstract June 2021

A Deep Intronic Substitution in CNGB3 is One of the Major Causes of Achromatopsia among Jewish Patients

Hamzah Aweidah; Manar Salameh; Claudia Yahalom; Anat Blumenfeld; Michal Macarov; Nicole Weisschuh; Susanne Kohl; Eyal Banin; Dror Sharon

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):4.

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.

ARVO Annual Meeting Abstract June 2020

Genetic Basis of Brazilian Achromatopsia Patients

Fernanda Belga Ottoni Porto; Shirley M Sampaio; Britta Baumann; Yumei Li; Renata Simoes; Stephen Tsang; Rui Chen; Susanne Kohl

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4467.

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Achromatopsia—Visual Cortex Stability and Plasticity in the Absence of Functional Cones

Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa

Effect of S-cones on the generation of Oscillatory potentials

Usher syndrome 1C protein harmonin suppresses canonical Wnt-signaling providing novel insights into the pathophysiology of USH1C

Safety and Vision Outcomes of subretinal gene supplementation therapy in PDE6A -associated Retinitis pigmentosa

Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial

Longitudinal Evaluation of Changes in Retinal Architecture Using Optical Coherence Tomography in Achromatopsia

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

Multimodal retina examination of patients with CNGA1 retinitis pigmentosa

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

Evaluation of Local Rod and Cone Function in Stargardt Disease

Visual cortex stability and plasticity in the absence of functional cones in achromatopsia

Anatomical changes to primary visual cortex in the congenital absence of cone input

Short term morphological rescue of the fovea after gene therapy with voretigene neparvovec

A Deep Intronic Substitution in CNGB3 is One of the Major Causes of Achromatopsia among Jewish Patients

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

Genetic Basis of Brazilian Achromatopsia Patients

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