Publications by authors named "Bernd Wissinger"

99Publications

Dominant optic atrophy: Culprit mitochondria in the optic nerve.

Prog Retin Eye Res 2020 Dec 16:100935. Epub 2020 Dec 16.

Molecular Genetics Laboratory, Institute for Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Tübingen, Germany. Electronic address:

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December 2020

First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy - a case report.

BMC Med Genet 2020 11 26;21(1):236. Epub 2020 Nov 26.

University Eye Hospital, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.

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November 2020

Foveal Therapy in Blue Cone Monochromacy: Predictions of Visual Potential From Artificial Intelligence.

Front Neurosci 2020 3;14:800. Epub 2020 Aug 3.

Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.

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August 2020

Splicing mutations in inherited retinal diseases.

Prog Retin Eye Res 2020 Jun 15:100874. Epub 2020 Jun 15.

Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Germany. Electronic address:

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June 2020

Genetic Heritability of Pigmentary Glaucoma and Associations With Other Eye Phenotypes.

JAMA Ophthalmol 2020 03;138(3):294-299

Department of Ophthalmology, St Thomas' Hospital, King's College London, London, United Kingdom.

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March 2020

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.

PLoS One 2018 21;13(12):e0205380. Epub 2018 Dec 21.

Center for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.

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April 2019

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

Invest Ophthalmol Vis Sci 2018 12;59(15):5762-5772

Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States.

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December 2018

[Genetic Causes and Genetic Diagnostic Testing of Inherited Optic Atrophies].

Authors:
Bernd Wissinger

Klin Monbl Augenheilkd 2018 Nov 20;235(11):1235-1241. Epub 2018 Nov 20.

Molekulargenetisches Labor, Department für Augenheilkunde, Universität Tübingen.

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November 2018

A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report.

BMC Med Genet 2018 06 26;19(1):107. Epub 2018 Jun 26.

Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Elfriede-Aulhorn 7, D-72076, Tuebingen, Germany.

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June 2018

An early nonsense mutation facilitates the expression of a short isoform of CNGA3 by alternative translation initiation.

Exp Eye Res 2018 06 27;171:48-53. Epub 2018 Feb 27.

Molecular Genetics Laboratory, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany. Electronic address:

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June 2018

AAV8 Can Induce Innate and Adaptive Immune Response in the Primate Eye.

Mol Ther 2017 Dec 31;25(12):2648-2660. Epub 2017 Aug 31.

University Eye Hospital, Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany; Institute for Ophthalmic Research, Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany; STZ eyetrial at the Center for Ophthalmology, University of Tübingen, Tübingen, Germany; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK. Electronic address:

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December 2017

CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.

Hum Mutat 2017 11 28;38(11):1579-1591. Epub 2017 Aug 28.

Institute for Ophthalmic Research, Molecular Genetics Laboratory, Tuebingen, Germany.

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November 2017

CDHR1 mutations in retinal dystrophies.

Sci Rep 2017 08 1;7(1):6992. Epub 2017 Aug 1.

Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.

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August 2017

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

Invest Ophthalmol Vis Sci 2017 02;58(2):821-832

Center for Ophthalmology, University of Tübingen, Tübingen, Germany 7Werner Reichardt Center for Integrative Neuroscience, University of Tübingen, Tübingen, Germany.

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February 2017

Achromatopsia mutations target sequential steps of ATF6 activation.

Proc Natl Acad Sci U S A 2017 01 27;114(2):400-405. Epub 2016 Dec 27.

Department of Pathology, University of California, San Diego, La Jolla, CA 92093;

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January 2017

Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1.

Mol Ther Nucleic Acids 2016 Nov 22;5(11):e390. Epub 2016 Nov 22.

Molecular Genetics Laboratory, Institute for Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Tübingen, Germany.

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November 2016

OPA1 haploinsufficiency induces a BNIP3-dependent decrease in mitophagy in neurons: relevance to Dominant Optic Atrophy.

J Neurochem 2017 02 20;140(3):485-494. Epub 2016 Dec 20.

Research Center on Animal Cognition (CRCA), Center for Integrative Biology (CBI), Toulouse University, CNRS, UPS, France.

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February 2017

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.

Nat Genet 2016 Feb 11;48(2):189-94. Epub 2016 Jan 11.

Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.

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February 2016

Influence of Opa1 Mutation on Survival and Function of Retinal Ganglion Cells.

Invest Ophthalmol Vis Sci 2015 Jul;56(8):4835-45

Retinal Circuits and Optogenetics, Centre for Integrative Neuroscience and Bernstein Center for Computational Neuroscience, University of Tübingen, Tübingen, Germany.

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July 2015

Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation.

Eur J Hum Genet 2016 Mar 8;24(3):459-62. Epub 2015 Jul 8.

Molecular Genetics Laboratory, Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany.

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March 2016

Imaging Ca2+ dynamics in cone photoreceptor axon terminals of the mouse retina.

J Vis Exp 2015 May 6(99):e52588. Epub 2015 May 6.

Institute for Ophthalmic Research, University of Tübingen;

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May 2015

Deletion of myosin VI causes slow retinal optic neuropathy and age-related macular degeneration (AMD)-relevant retinal phenotype.

Cell Mol Life Sci 2015 Oct 6;72(20):3953-69. Epub 2015 May 6.

Molecular Physiology of Hearing, Tübingen Hearing Research Centre, Department of Otolaryngology, Head and Neck Surgery, University of Tübingen, Elfriede-Aulhorn-Str. 5, 72076, Tübingen, Germany.

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October 2015

Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials.

PLoS One 2015 24;10(4):e0125700. Epub 2015 Apr 24.

Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.

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April 2016

Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family.

Mol Vis 2015 15;21:306-15. Epub 2015 Mar 15.

Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.

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September 2015

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.

Mol Genet Genomic Med 2015 Jan 15;3(1):14-29. Epub 2014 Sep 15.

McGill Ocular Genetics Laboratory, Departments of Paediatric Surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Centre Montreal, Quebec, Canada.

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January 2015

Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy.

Eur J Hum Genet 2015 Apr 23;23(4):473-80. Epub 2014 Jul 23.

1] Institute of Molecular Biology and Biotechnology, Bahauddin Zakariya University, Multan, Pakistan [2] Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.

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April 2015

Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.

Brain 2014 Aug 25;137(Pt 8):2164-77. Epub 2014 Jun 25.

3 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler-Straße 3, 72076 Tübingen, Germany4 Centre for Neurodegenerative Diseases (DZNE), Helmholtz Association of German Research Centers, Otfried-Müller-Straße 27, 72076 Tübingen, Germany.

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August 2014

GUCY2D- or GUCA1A-related autosomal dominant cone-rod dystrophy: is there a phenotypic difference?

Retina 2014 Aug;34(8):1576-87

*Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany; †Molecular Genetics Laboratory, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany; ‡Department of Ophthalmology, University of Regensburg, Regensburg, Germany; and ¶Werner Reichardt Centre for Integrative Neuroscience (CIN), University of Tübingen, Tübingen, Germany.

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August 2014

Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family.

Mol Vis 2014 7;20:178-82. Epub 2014 Feb 7.

Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Germany.

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September 2014

Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia.

JAMA Ophthalmol 2014 Apr;132(4):437-45

Department of Ophthalmology, Columbia University, New York, New York6Bernard and Shirlee Brown Glaucoma Laboratory, Edward S. Harkness Eye Institute, New York-Presbyterian Hospital, New York, New York 7Department of Pathology and Cell Biology, Columbia Un.

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April 2014

A tale of two retinal domains: near-optimal sampling of achromatic contrasts in natural scenes through asymmetric photoreceptor distribution.

Neuron 2013 Dec;80(5):1206-17

Werner Reichardt Centre for Integrative Neurosciences (CIN)/Institute for Ophthalmic Research, University of Tübingen, Otfried-Müller-Strasse 25, 72076 Tübingen, Germany; Bernstein Centre for Computational Neuroscience (BCCN), University of Tübingen, Otfried-Müller-Strasse 25, 72076 Tübingen, Germany.

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December 2013

Diagnostic fundus autofluorescence patterns in achromatopsia.

Am J Ophthalmol 2013 Dec 20;156(6):1211-1219.e2. Epub 2013 Aug 20.

Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan.

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December 2013

Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype.

Ophthalmology 2013 Nov 29;120(11):2338-43. Epub 2013 May 29.

Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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November 2013

Rod and cone function in patients with KCNV2 retinopathy.

PLoS One 2012 15;7(10):e46762. Epub 2012 Oct 15.

Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.

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March 2013

A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.

Am J Hum Genet 2012 Sep 16;91(3):527-32. Epub 2012 Aug 16.

Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, 72076 Tuebingen, Germany.

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September 2012

A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia.

Mol Vis 2012 29;18:751-7. Epub 2012 Mar 29.

Centre for Ophthalmology, Institute for Ophthalmic Research, Molecular Genetics Laboratory, Tuebingen, Germany.

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July 2012

Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract.

Mol Vis 2012 21;18:174-80. Epub 2012 Jan 21.

Centre for Ophthalmology, Institute for Ophthalmic Research, Molecular Genetics Laboratory, Tuebingen, Germany.

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July 2012

Genes and mutations in autosomal dominant cone and cone-rod dystrophy.

Adv Exp Med Biol 2012 ;723:337-43

Department for Ophthalmology, Molecular Genetics Laboratory, Institute for Ophthalmic Research, University Tuebingen, Roentgenweg 11, S Tuebingen, 72076, Germany.

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April 2012

Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2.

Invest Ophthalmol Vis Sci 2011 Nov 7;52(12):8621-9. Epub 2011 Nov 7.

Department of Ophthalmology, Justus-Liebig-University, Giessen, Germany.

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November 2011

GDF-15: a novel serum marker for metastases in uveal melanoma patients.

Graefes Arch Clin Exp Ophthalmol 2012 Jun 1;250(6):887-95. Epub 2011 Sep 1.

Department of Ophthalmology, Eberhard-Karls University Tuebingen, Schleichstr. 12-16, 72076 Tuebingen, Germany.

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June 2012

Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia.

Hum Mol Genet 2011 Feb 1;20(4):719-30. Epub 2010 Dec 1.

Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University Clinics Tuebingen, Roentgenweg 11, D-72076 Tuebingen, Germany.

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February 2011

Clinical utility gene card for: Axenfeld-Rieger syndrome.

Eur J Hum Genet 2011 Mar 13;19(3). Epub 2010 Oct 13.

Molecular Genetics Laboratory, Centre for Ophthalmology, Institute for Ophthalmic Research, Tuebingen, Germany.

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March 2011

cGMP-dependent cone photoreceptor degeneration in the cpfl1 mouse retina.

J Comp Neurol 2010 Sep;518(17):3604-17

Division of Experimental Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, 72076 Germany.

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September 2010

Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy.

Mol Neurodegener 2010 Jun 14;5:25. Epub 2010 Jun 14.

Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Germany.

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June 2010