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Retina September 2018

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290

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Dyon Valkenburg; Caroline van Cauwenbergh; Birgit Lorenz; Mies M. van Genderen; Mette Bertelsen; Jan-Willem R. Pott; Frauke Coppieters; Julie de Zaeytijd; Alberta A. H. J. Thiadens; Caroline C. W. Klaver; Hester Y. Kroes; Mary J. van Schooneveld; Markus Preising; Carel B. Hoyng; Bart P. Leroy; L. Ingeborgh van den Born; Rob W. J. Collin

Invest. Ophthalmol. Vis. Sci.. 2018; 59(11):4384-4391. doi: 10.1167/iovs.18-24817

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

Identification of mutations in CACNA1F in patients with incomplete CSNB applying next generation sequencing approaches

Christina Zeitz; Christelle Michiels; Marion Neuille; Christoph Friedburg; Christel Condroyer; Fiona Boyard; Aline Antonio; Markus N Preising; Vincent Meyer; Anne Boland; Jean-François Deleuze; Lilia Mesrob; Bernhard Jurklies; Birgit Lorenz; Jose Alain Sahel; Isabelle S Audo

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):575. doi:

ARVO Annual Meeting Abstract June 2017

A Novel Candidate Gene for Complete Achromatopsia

Markus N Preising; Anna-Maria Zuliani; Birgit Lorenz

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2781. doi:

ARVO Annual Meeting Abstract September 2016

Investigations for the underlying genetic cause in a consanguineous family with complete achromatopsia

Markus N Preising; Anna-Maria Zuliani; Birgit Lorenz

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3167. doi:

ARVO Annual Meeting Abstract June 2015

Correlation of the fundus autofluorescence pattern with retinal layer thickness in patients with retinitis pigmentosa

Markus N Preising; Stefanie Leibold; Hanno Joern Bolz; Birgit Lorenz

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):3810. doi:

ARVO Annual Meeting Abstract April 2014

Links between the endoplasmatic reticulum protein WFS1/Wolframin and mitochondrial proteins defined in silico may explain optic atrophy

Rainald G Schmidt-Kastner; Tyler Seidman; Gabriel Quinones-Medina; Birgit Lorenz; Markus N Preising

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6230. doi:

ARVO Annual Meeting Abstract April 2014

Evaluation of mutant retinol cycle enzymes

Markus N Preising; Annabella Janise; Hoffmann Ina; Weber Julia; Birgit Lorenz

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3469. doi:

ARVO Annual Meeting Abstract April 2014

Efficacy of oral acetazolamide and topical dorzolamide therapy for X-linked juvenile retinoschisis maculopathy

Maria Silvana Galantuomo; Alberto Cuccu; Ignazio Zucca; Markus N Preising; Birgit Lorenz; Maurizio Fossarello

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):5910. doi:

Articles February 2014

Optical Coherence Tomography (OCT) Device Independent Intraretinal Layer Segmentation

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Alexander Ehnes; Yaroslava Wenner; Christoph Friedburg; Markus N. Preising; Wadim Bowl; Walter Sekundo; Erdmuthe Meyer zu Bexten; Knut Stieger; Birgit Lorenz
TAGS: engineering, retina, optical coherence tomography
Trans. Vis. Sci. Tech.. 2014; 3(1):1. doi: 10.1167/tvst.3.1.1

Includes: Supplemental Content

Multidisciplinary Ophthalmic Imaging June 2013

Automated Segmentation of Pathological Cavities in Optical Coherence Tomography Scans

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Matthäus Pilch; Knut Stieger; Yaroslava Wenner; Markus N. Preising; Christoph Friedburg; Erdmuthe Meyer zu Bexten; Birgit Lorenz
TAGS: retina, exudative retinal detachment, volume, optical coherence tomography, anti-vascular endothelial growth factor therapy
Invest. Ophthalmol. Vis. Sci.. 2013; 54(6):4385-4393. doi: 10.1167/iovs.12-11396

ARVO Annual Meeting Abstract June 2013

High-coverage next-generation sequencing (NGS) for retinal dystrophies and Usher syndrome: High diagnostic yield, CNV detection, novel disease mechanisms and therapy targets

Hanno Bolz; Christine Neuhaus; Markus Preising; Arif Khan; Martin Gliem; Peter Charbel Issa; Uwe Wolfrum; Andreas Gal; Birgit Lorenz; Tobias Eisenberger

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):3373. doi:

ARVO Annual Meeting Abstract June 2013

Towards Comprehensive Registration of DNA Sequence Variants Associated with Inherited Retinal Diseases in Leiden Open Variation Databases

Frans Cremers; Johan den Dunnen; Muhammad Ajmal; Alamdar Hussain; Muhammad Khan; Markus Preising; Stephen Daiger; Raheel Qamar; LOVD Study Group

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):3379. doi:

ARVO Annual Meeting Abstract June 2013

Impact of CHM Mutations at the mRNA level

Markus Preising; Nayyir Alavi; Birgit Lorenz

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):1330. doi:

ARVO Annual Meeting Abstract June 2013

Characterisation of a novel antibody against the loop between TMD 3 and 4 of human Bestrophin1

Caroline Pasquay; Annabella Janise; Birgit Lorenz; Markus Preising

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):702. doi:

Eye Movements, Strabismus, Amblyopia and Neuro-ophthalmology August 2012

Chromatic Pupillometry Dissects Function of the Three Different Light-Sensitive Retinal Cell Populations in RPE65 Deficiency

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Birgit Lorenz; Elisabeth Strohmayr; Steffen Zahn; Christoph Friedburg; Martin Kramer; Markus Preising; Knut Stieger
TAGS: retinal cone, pupil, rod photoreceptors, pupil reaction, pupillometry
Invest. Ophthalmol. Vis. Sci.. 2012; 53(9):5641-5652. doi: 10.1167/iovs.12-9974

Genetics June 2012

Mutations in RD3 Are Associated with an Extremely Rare and Severe Form of Early Onset Retinal Dystrophy

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Markus N. Preising; Nora Hausotter-Will; Manuel C. Solbach; Christoph Friedburg; Franz Rüschendorf; Birgit Lorenz
TAGS: mutation, electroretinography, family, perimetry, visual fields, retinal dystrophies
Invest. Ophthalmol. Vis. Sci.. 2012; 53(7):3463-3472. doi: 10.1167/iovs.12-9519

ARVO Annual Meeting Abstract March 2012

Exploring Retinal Disease Genes In Databases For Copy Number Variations (CNVs) In Brain Disorders

Rainald G. Schmidt-Kastner; Sophia E. Cuprill-Nilson; Birgit Lorenz; Markus Preising

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4549. doi:

ARVO Annual Meeting Abstract March 2012

Membrane Extraction of Heterologously Expressed Human Bestrophin-1 Under Native Conditions

Caroline Pasquay; Annabella Janise; Lufei Wang; Birgit Lorenz; Markus Preising

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1603. doi:

ARVO Annual Meeting Abstract March 2012

Overlapping Intracellular Localization of AIPL1 and CENPF upon Heterologous Expression of His-Tagged AIPL1 Constructs

Bhupesh Parise; Birgit Lorenz; Markus N. Preising

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):762. doi:

ARVO Annual Meeting Abstract March 2012

Next-generation Sequencing Of All Known Genes For RP And Allied Diseases Identifies The Causative Mutations In The Majority Of Patients

Hanno J. Bolz; Carsten Bergmann; Andreas Gal; Saeed R. Ghaffari; Manfred Schürmann; Markus N. Preising; Birgit Lorenz; Christoph Friedburg; Christine Neuhaus; Tobias Eisenberger

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4525. doi:

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Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290

Identification of mutations in CACNA1F in patients with incomplete CSNB applying next generation sequencing approaches

A Novel Candidate Gene for Complete Achromatopsia

Investigations for the underlying genetic cause in a consanguineous family with complete achromatopsia

Correlation of the fundus autofluorescence pattern with retinal layer thickness in patients with retinitis pigmentosa

Links between the endoplasmatic reticulum protein WFS1/Wolframin and mitochondrial proteins defined in silico may explain optic atrophy

Evaluation of mutant retinol cycle enzymes

Efficacy of oral acetazolamide and topical dorzolamide therapy for X-linked juvenile retinoschisis maculopathy

Optical Coherence Tomography (OCT) Device Independent Intraretinal Layer Segmentation

Automated Segmentation of Pathological Cavities in Optical Coherence Tomography Scans

High-coverage next-generation sequencing (NGS) for retinal dystrophies and Usher syndrome: High diagnostic yield, CNV detection, novel disease mechanisms and therapy targets

Towards Comprehensive Registration of DNA Sequence Variants Associated with Inherited Retinal Diseases in Leiden Open Variation Databases

Impact of CHM Mutations at the mRNA level

Characterisation of a novel antibody against the loop between TMD 3 and 4 of human Bestrophin1

Chromatic Pupillometry Dissects Function of the Three Different Light-Sensitive Retinal Cell Populations in RPE65 Deficiency

Mutations in RD3 Are Associated with an Extremely Rare and Severe Form of Early Onset Retinal Dystrophy

Exploring Retinal Disease Genes In Databases For Copy Number Variations (CNVs) In Brain Disorders

Membrane Extraction of Heterologously Expressed Human Bestrophin-1 Under Native Conditions

Overlapping Intracellular Localization of AIPL1 and CENPF upon Heterologous Expression of His-Tagged AIPL1 Constructs

Next-generation Sequencing Of All Known Genes For RP And Allied Diseases Identifies The Causative Mutations In The Majority Of Patients

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