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Articles December 2019

Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by CRB1 Mutations

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Krunoslav T. Stingl; Laura Kuehlewein; Nicole Weisschuh; Saskia Biskup; Frans P. M. Cremers; M. Imran Khan; Carina Kelbsch; Tobias Peters; Marius Ueffing; Barbara Wilhelm; Eberhart Zrenner; Katarina Stingl
TAGS: eye, illness length, mutation, pupil reaction, retinitis pigmentosa
Trans. Vis. Sci. Tech.. 2019; 8(6):45. doi: https://doi.org/10.1167/tvst.8.6.45

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: https://doi.org/

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: https://doi.org/

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: https://doi.org/

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. doi: https://doi.org/

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: https://doi.org/

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: https://doi.org/

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: phenotype, mutation, cohort studies, electroretinography, genes, heterozygote, german, spectral-domain optical coherence tomography
Invest. Ophthalmol. Vis. Sci.. 2018; 59(7):3041-3052. doi: https://doi.org/10.1167/iovs.18-24033

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: https://doi.org/

ARVO Annual Meeting Abstract June 2017

Hidden genetic variation in Stargardt disease: novel copy number variations, cis -regulatory and deep-intronic splice variants within the ABCA4 locus

Miriam Bauwens; Riccardo Sangermano; Timothy Cherry; Van Cauwenbergh Caroline; José Luis Gómez-Skarmeta; Nicole Weisschuh; Susanne Kohl; Bart Peter Leroy; Frans P Cremers; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):580. doi: https://doi.org/

ARVO Annual Meeting Abstract September 2016

Functional characterization of novel deleterious MFSD8 mutations found by whole exome sequencing in early-onset isolated maculopathy

Miriam Bauwens; Nicole Weisschuh; Chantal Ceuterick-de Groote; Riet De Rycke; Susanne Kohl; Frauke Coppieters; Arnaud Vanlander; Rudy Van Coster; Bart Peter Leroy; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):667. doi: https://doi.org/

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. doi: https://doi.org/

ARVO Annual Meeting Abstract June 2015

Identification of mutations in retinal disease genes using Whole Exome Sequencing

Anja Kathrin Mayer; Bernd Wissinger; Nicole Weisschuh

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1254. doi: https://doi.org/

ARVO Annual Meeting Abstract June 2015

Mutations in the Unfolded Protein Response regulator, ATF6, cause Achromatopsia

Susanne Kohl; Ditta Zobor; Wei-Chieh Chiang; Nicole Weisschuh; Mathias W Seeliger; Stanley Chang; Randal J. Kaufman; Stephen H Tsang; Bernd Wissinger; Jonathan H. Lin; ACHM Study Group

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2865. doi: https://doi.org/

ARVO Annual Meeting Abstract June 2015

An augmented ABCA4 screen targeting non-coding regions reveals a deep intronic founder causal variant in Belgian Stargardt patients

Miriam Bauwens; Julie De Zaeytijd; Nicole Weisschuh; Susanne Kohl; Françoise Meire; Karin Dahan; Fanny Depasse; Frauke Coppieters; Bart Peter Leroy; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2878. doi: https://doi.org/

ARVO Annual Meeting Abstract June 2015

OPN1LW/MW exon 3 haplotypes associated with Blue Cone Monochromacy disrupt exonic regulatory elements of splicing and can arise by gene conversion

Elena Buena-Atienza; Britta Baumann; Nicole Weisschuh; Klaus W Ruether; Susanne Kohl; Bernd Wissinger; BCM Study Group

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2886. doi: https://doi.org/

ARVO Annual Meeting Abstract April 2014

Mutation screening in patients with retinal dystrophies using a Panel-based Next Generation Sequencing approach

Nicole Weisschuh; Anja-Kathrin Mayer; Nicola Gloeckle; Susanne Kohl; Saskia Biskup; Bernd Wissinger

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3268. doi: https://doi.org/

ARVO Annual Meeting Abstract June 2013

The farnesylated small GTPase RAB28 is mutated in autosomal recessive cone-rod dystrophy

Susanne Roosing; Klaus Rohrschneider; Avigail Beryozkin; Nicole Weisschuh; Susanne Kohl; Bernd Wissinger; Eyal Banin; Frans Cremers; Anneke Den Hollander; RAB28 Study Group

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):1228. doi: https://doi.org/

ARVO Annual Meeting Abstract March 2012

Genotype-phenotype Analysis In Patients With Autosomal Recessive Retinitis Pigmentosa (arRP) Due To PDE6A Mutations

Ditta Zobor; Steffen Link; Nicole Weisschuh; Gergely Zobor; Susanne Kohl; Bernd Wissinger; Eberhart Zrenner

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4564. doi: https://doi.org/

ARVO Annual Meeting Abstract April 2011

Frequent Blood Donations and Blood Loss - Risk Factors for Visual Field Loss in Patients with Normal Tension Glaucoma?

Anna Schwarz; Eugen Gramer; Constantin Reiter; Nicole Weisschuh; Gwendolyn Gramer

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):3483. doi: https://doi.org/

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Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by CRB1 Mutations

CPH1, a new gene for Dominant Optic Atrophy

ABCA4 -associated disease as a model for missing heritability in autosomal recessive disorders: novel non-coding splice, cis -regulatory, structural and recurrent hypomorphic variants

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

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

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

Genetic heritability and associations of Pigmentary Glaucoma

Hidden genetic variation in Stargardt disease: novel copy number variations, cis -regulatory and deep-intronic splice variants within the ABCA4 locus

Functional characterization of novel deleterious MFSD8 mutations found by whole exome sequencing in early-onset isolated maculopathy

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

Identification of mutations in retinal disease genes using Whole Exome Sequencing

Mutations in the Unfolded Protein Response regulator, ATF6, cause Achromatopsia

An augmented ABCA4 screen targeting non-coding regions reveals a deep intronic founder causal variant in Belgian Stargardt patients

OPN1LW/MW exon 3 haplotypes associated with Blue Cone Monochromacy disrupt exonic regulatory elements of splicing and can arise by gene conversion

Mutation screening in patients with retinal dystrophies using a Panel-based Next Generation Sequencing approach

The farnesylated small GTPase RAB28 is mutated in autosomal recessive cone-rod dystrophy

Genotype-phenotype Analysis In Patients With Autosomal Recessive Retinitis Pigmentosa (arRP) Due To PDE6A Mutations

Frequent Blood Donations and Blood Loss - Risk Factors for Visual Field Loss in Patients with Normal Tension Glaucoma?

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