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ARVO Annual Meeting Abstract June 2022

X-linked retinitis pigmentosa caused by a non-canonical splice variant in RPGR

Samuel Koller; Tim Beltramelli; Agnès Wlodarczyk; Silke Feil; Lucy Bähr; Christina Gerth-Kahlert; Moreno Menghini; Wolfgang Berger

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):504 – A0081.

ARVO Annual Meeting Abstract June 2022

Intrafamilial phenotypic variability in a large family with autosomal dominant RP1 associated Retinitis pigmentosa, and novel RP1 variants in autosomal recessive RP

Moreno Menghini; Samuel Koller; David Grubich Atac; Silke Feil; Fatma Kivrak Pfiffner; Lucy Bähr; Istvan Magyar; Angela Bahr; Daniel Barthelmes; Wolfgang Berger

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1593 – A0382.

ARVO Annual Meeting Abstract June 2021

Downregulation of ABCA1 in iPSC-derived RPE cells impaired cholesterol efflux leading to intracellular lipid accumulation

Florian Peters; David Grubich Atac; Wolfgang Berger; Anneke I Den Hollander; Christian Grimm

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):248.

Articles June 2020

Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes

PDF

Elena Lang; Samuel Koller; Luzy Bähr; Marc Töteberg-Harms; David Atac; Françoise Roulez; Angela Bahr; Katharina Steindl; Silke Feil; Wolfgang Berger; Christina Gerth-Kahlert
TAGS: cohort studies, glaucoma, congenital, whole exome sequencing, glaucoma
Trans. Vis. Sci. Tech.. 2020; 9(7):47. https://doi.org/10.1167/tvst.9.7.47

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

Posterior Pole Involvement in Patients affected by Dystrophia Myotonica 1 (DM1): Correlation to Genotype?

Karen Schaal; Mathias Abegg; Kaspar Schuerch; Claudine Rieubland; Muriel Ott; Lilly Khamsy; Urs Graf; Fatma Kivrak Pfiffner; Wolfgang Berger; Andre Schaller; Pascal Escher

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1590.

Genetics July 2019

Genotype–Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa

PDF

Christina Gerth-Kahlert; Samuel Koller; James V. M. Hanson; Luzy Baehr; Amit Tiwari; Fatma Kivrak-Pfiffner; Angela Bahr; Wolfgang Berger
TAGS: family, genotype, phenotype, recurrence, retinitis pigmentosa, missense mutation, mutation, genes, heterozygote, visual acuity
Invest. Ophthalmol. Vis. Sci.. 2019; 60(8):2822-2835. https://doi.org/10.1167/iovs.18-25643

Genetics August 2017

C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations

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Christina Gerth-Kahlert; Amit Tiwari; James V. M. Hanson; Vaishnavi Batmanabane; Elias Traboulsi; Mark E. Pennesi; Abdullah A. Al-Qahtani; Byron L. Lam; John Heckenlively; Sandrine A. Zweifel; Ajoy Vincent; Fabienne Fierz; Daniel Barthelmes; Kari Branham; Naheed Khan; Angela Bahr; Luzy Baehr; István Magyar; Samuel Koller; Silvia Azzarello-Burri; Dunja Niedrist; Elise Heon; Wolfgang Berger
TAGS: autosomal recessive inheritance, de novo mutation, genes, mutation, phenotype, retinitis pigmentosa, language morphology, morphology, macular disorders
Invest. Ophthalmol. Vis. Sci.. 2017; 58(10):3840-3850. https://doi.org/10.1167/iovs.17-21597

ARVO Annual Meeting Abstract June 2017

Genotype - phenotype analysis in a family with autosomal dominant retinitis pigmentosa and a mutation in SNRNP200 .

Christina Gerth-Kahlert; Amit Tiwari; Angela Bahr; James V.M. Hanson; Wolfgang Berger

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2767.

Genetics May 2016

Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis

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Ajoy Vincent; Judith Ng; Christina Gerth-Kahlert; Erika Tavares; Jason T. Maynes; Thomas Wright; Amit Tiwari; Anupreet Tumber; Shuning Li; James V. M. Hanson; Angela Bahr; Heather MacDonald; Luzy Bähr; Carol Westall; Wolfgang Berger; Frans P. M. Cremers; Anneke I. den Hollander; Elise Héon
TAGS: autosomal recessive inheritance, family, genetics, mutation, phenotype, retinoschisis, eye, relationship - sibling, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2016; 57(6):2637-2646. https://doi.org/10.1167/iovs.15-18281

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2015

A new method to determine efficacies to treat RPGR mutations: Quantification of RPGR transport along the primary cilium in patient-derived cells

Christoph Jüschke; Romain Da Costa; Esther Glaus; Amit Tiwari; Barbara Kloeckener-Gruissem; Wolfgang Berger; John Neidhardt

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2062.

Biochemistry and Molecular Biology August 2014

Lack of Paraoxonase 1 Alters Phospholipid Composition, but Not Morphology and Function of the Mouse Retina

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Jadwiga Oczos; Iryna Sutter; Barbara Kloeckener-Gruissem; Wolfgang Berger; Meliana Riwanto; Katharina Rentsch; Thorsten Hornemann; Arnold von Eckardstein; Christian Grimm
TAGS: mice, pon1 gene, retina, phospholipids, language morphology, morphology
Invest. Ophthalmol. Vis. Sci.. 2014; 55(8):4714-4727. https://doi.org/10.1167/iovs.14-14332

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2013

Jalili syndrome: retinal dystrophy and amelogenesis imperfecta: genotype-phenotype analysis in four new cases

Christina Gerth-Kahlert; Britta Seebauer; Sandra Dold; Johannes Fleischhauer; Hubertus van Waes; Wolfgang Berger

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):1342.

ARVO Annual Meeting Abstract June 2013

Highly efficient genetic diagnostic testing in patients with inherited retinal dystrophies using Panel-based Next Generation Sequencing

Nicola Gloeckle; Susanne Kohl; Julia Mohr; Tim Scheurenbrand; Andrea Sprecher; Saskia Biskup; Wolfgang Berger; Bernd Wissinger; John Neidhardt

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):3369.

ARVO Annual Meeting Abstract June 2013

Identification of the substrate and characterization of transport properties for the cataract associated monocarboxylate transporter MCT12

Barbara Kloeckener-Gruissem; Nancy Philp; Jeannette Abplanalp; Simone Camargo; Daniel Schorderet; Francis Munier; John Neidhardt; François Verrey; Endre Laczko; Wolfgang Berger

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):3683.

ARVO Annual Meeting Abstract June 2013

Paraoxonase-1 (PON1) in retinal physiology and pathophysiology

Jadwiga Oczos; Barbara Kloeckener-Gruissem; Wolfgang Berger; Christian Grimm

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):6081.

ARVO Annual Meeting Abstract March 2012

Combined Exome Sequencing And Linkage Analysis Reveals A Dominant-negative ZNF408 Mutation Causing Familial Exudative Vitreoretinopathy

Rob W. Collin; Konstantinos Nikopoulos; Christian Gilissen; F Nienke Boonstra; Hiroyuki Kondo; Carmel Toomes; Wolfgang Berger; C Erik van Nouhuys; Alexander Hoischen; Frans P. Cremers

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):2257.

ARVO Annual Meeting Abstract March 2012

Long-term Studies On The Anti-VEGF Treatment Success In Age-related Macular Degeneration (amd)

Barbara Kloeckener-Gruissem; Moreno Menghini; Florian Sutter; Johannes Fleischhauer; Malaika Kurz-Levin; Wolfgang Berger; Daniel Barthelmes

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):5168.

Genetics June 2011

Genetic Association with Response to Intravitreal Ranibizumab in Patients with Neovascular AMD

PDF

Barbara Kloeckener-Gruissem; Daniel Barthelmes; Stephan Labs; Christian Schindler; Malaika Kurz-Levin; Stephan Michels; Johannes Fleischhauer; Wolfgang Berger; Florian Sutter; Moreno Menghini
TAGS: exudative age-related macular degeneration, genetics, ranibizumab, single nucleotide polymorphism, genotype, genetic aspects
Invest. Ophthalmol. Vis. Sci.. 2011; 52(7):4694-4702. https://doi.org/10.1167/iovs.10-6080

ARVO Annual Meeting Abstract April 2011

Multimodal Imaging of Drusen Associated with Malattia Leventinese

Sandrine A. Zweifel; Patrizia Tschuor; Istvan Magyar; Wolfgang Berger; Matthias Becker; Christina Springer; Stephan Michels

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):3703.

ARVO Annual Meeting Abstract April 2011

Norrin Promotes Neovascularisation and Revascularisation in Retinal Ischaemia

Ulrich F. Luhmann; Freya M. Mowat; Clemens A. Lange; Yanai Duran; Robin R. Ali; Wolfgang Berger; James W. Bainbridge

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):4864.

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X-linked retinitis pigmentosa caused by a non-canonical splice variant in RPGR

Intrafamilial phenotypic variability in a large family with autosomal dominant RP1 associated Retinitis pigmentosa, and novel RP1 variants in autosomal recessive RP

Downregulation of ABCA1 in iPSC-derived RPE cells impaired cholesterol efflux leading to intracellular lipid accumulation

Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes

Posterior Pole Involvement in Patients affected by Dystrophia Myotonica 1 (DM1): Correlation to Genotype?

Genotype–Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa

C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations

Genotype - phenotype analysis in a family with autosomal dominant retinitis pigmentosa and a mutation in SNRNP200 .

Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis

A new method to determine efficacies to treat RPGR mutations: Quantification of RPGR transport along the primary cilium in patient-derived cells

Lack of Paraoxonase 1 Alters Phospholipid Composition, but Not Morphology and Function of the Mouse Retina

Jalili syndrome: retinal dystrophy and amelogenesis imperfecta: genotype-phenotype analysis in four new cases

Highly efficient genetic diagnostic testing in patients with inherited retinal dystrophies using Panel-based Next Generation Sequencing

Identification of the substrate and characterization of transport properties for the cataract associated monocarboxylate transporter MCT12

Paraoxonase-1 (PON1) in retinal physiology and pathophysiology

Combined Exome Sequencing And Linkage Analysis Reveals A Dominant-negative ZNF408 Mutation Causing Familial Exudative Vitreoretinopathy

Long-term Studies On The Anti-VEGF Treatment Success In Age-related Macular Degeneration (amd)

Genetic Association with Response to Intravitreal Ranibizumab in Patients with Neovascular AMD

Multimodal Imaging of Drusen Associated with Malattia Leventinese

Norrin Promotes Neovascularisation and Revascularisation in Retinal Ischaemia

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