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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

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. doi: 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. doi: 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. doi: https://doi.org/10.1167/jov.21.9.2362

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. doi:

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. 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 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. doi:

ARVO Annual Meeting Abstract June 2020

Multi-Exon Deletion Alleles of ATF6 Linked to Achromatopsia

Kyle Kim; Eun-Jin Lee; Wei-Chieh Chiang; Heike Kroeger; Chloe Xiaoke Bi; Daniel L Chao; Rebecca Mastey; Stephen Tsang; Leon Chea; Britta Baumann; Isabelle S Audo; Susanne Kohl; Anthony Moore; Luke Wiseman; Joseph Carroll; Jonathan H Lin

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2393. 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 June 2019

Characterization of Retinal Structure in ATF6 -Associated Achromatopsia

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Rebecca R. Mastey; Michalis Georgiou; Christopher S. Langlo; Angelos Kalitzeos; Emily J. Patterson; Thomas Kane; Navjit Singh; Ajoy Vincent; Anthony T. Moore; Stephen H. Tsang; Jonathan H. Lin; Marielle P. Young; M. Elizabeth Hartnett; Elise Héon; Susanne Kohl; Michel Michaelides; Joseph Carroll
TAGS: achromatopsia, diagnostic imaging, mosaicism, retina, retinal cone, rod photoreceptors, parafoveal region, photoreceptors, genetics, fovea centralis
Invest. Ophthalmol. Vis. Sci.. 2019; 60(7):2631-2640. doi: https://doi.org/10.1167/iovs.19-27047

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

Longitudinal evaluation of changes in retinal architecture using optical coherence tomography (OCT) in achromatopsia.

Magdalini Triantafylla; Viral Sheth; Zhanhan Tu; Rebecca McLean; Mervyn George Thomas; Susanne Kohl; Frank A Proudlock; Irene Gottlob

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5205. doi:

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:

ARVO Annual Meeting Abstract July 2018

Characterization of retinal structure in ATF6 -associated achromatopsia

Rebecca Mastey; Michalis Georgiou; Christopher S Langlo; Angelos Kalitzeos; Ajoy Vincent; Anthony T Moore; Stephen H. Tsang; Jonathan H Lin; Marielle Young; M Elizabeth Hartnett; Elise Heon; Susanne Kohl; Michel Michaelides; Joseph Carroll

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):669. doi:

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. doi:

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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

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

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

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

Genetic Basis of Brazilian Achromatopsia Patients

Multi-Exon Deletion Alleles of ATF6 Linked to Achromatopsia

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

Characterization of Retinal Structure in ATF6 -Associated Achromatopsia

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

Longitudinal evaluation of changes in retinal architecture using optical coherence tomography (OCT) in achromatopsia.

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

Characterization of retinal structure in ATF6 -associated achromatopsia

CEP290 mutation spectrum in Germany and delineation of the associated phenotype

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