Publications by authors named "Markus Preising"

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Chorioretinal atrophy after Voretigene Neparvovec-therapy in RPE65-mutation-associated IRD: Longitudinal characterization in multimodal imaging.
Sandrine H Sassen, Marlene Sassmannshausen, Josua Sassen, Markus N Preising, Johanna P Scholz

Ophthalmologica· December 2025

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Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study.
Austin D Igelman, Elizabeth White, Alaa Tayyib, Lesley Everett, Ajoy Vincent, Markus Preising

Br J Ophthalmol· January 2025

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Single Center Experience with Voretigene Neparvovec Gene Augmentation Therapy in RPE65 Mutation-Associated Inherited Retinal Degeneration in a Clinical Setting.
Birgit Lorenz, Sandrine H Künzel, Markus N Preising, Johanna P Scholz, Petrus Chang

Ophthalmology· February 2024

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The landscape of submicroscopic structural variants at the gene cluster on Xq28 underlying blue cone monochromacy.
Bernd Wissinger, Britta Baumann, Elena Buena-Atienza, Zeinab Ravesh, Artur V Cideciyan, Markus N Preising

Proc Natl Acad Sci U S A· July 2022

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Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism.
Alexander E Volk, Andrea Hedergott, Markus Preising, Sebastian Rading, Julia Fricke

Hum Genet· August 2021

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Biallelic mutation of human encoding the taurine transporter TAUT is linked to early retinal degeneration.
Markus N Preising, Boris Görg, Christoph Friedburg, Natalia Qvartskhava, Birgit S Budde

FASEB J· October 2019

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Splitting of the lateral rectus muscle with medial transposition to treat oculomotor palsy: a retrospective analysis of 29 consecutive cases.
Sotirios Basiakos, Michael Gräf, Markus N Preising, Birgit Lorenz

Graefes Arch Clin Exp Ophthalmol· September 2019

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The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene.
Daniel C Chung, Mette Bertelsen, Birgit Lorenz, Mark E Pennesi, Bart P Leroy, Markus Preising

Am J Ophthalmol· March 2019

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[The Phenotypic Spectrum of Ophthalmic Changes in CEP290 Mutations].
Markus N Preising, Ute Schneider, Christoph Friedburg, Hildegard Gruber, Susanne Lindner

Klin Monbl Augenheilkd· March 2019

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[Reduced Visual Acuity at the Age of 3 Years and Flat Unilateral Retinal Detachment at the Age of 9 Years - History of a Child with Compound Heterozygous RP1 Mutations].
Daniela Aneta Starosta, Birgit Lorenz, Lyubomyr Lytvynchuk, Markus N Preising

Klin Monbl Augenheilkd· March 2019

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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.
Dyon Valkenburg, Caroline van Cauwenbergh, Birgit Lorenz, Mies M van Genderen, Mette Bertelsen, Markus Preising

Invest Ophthalmol Vis Sci· September 2018

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[Overview of Congenital Stationary Night Blindness with Predominantly Normal Fundus Appearance].
Christina Zeitz, Christoph Friedburg, Markus N Preising, Birgit Lorenz

Klin Monbl Augenheilkd· March 2018

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Ocular morphology and function in juvenile neuronal ceroid lipofuscinosis (CLN3) in the first decade of life.
Markus N Preising, Michaela Abura, Melanie Jäger, Klaus-Heiko Wassill, Birgit Lorenz

Ophthalmic Genet· November 2017

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Spatially Resolved Spectral Sensitivities as a Potential Read-out Parameter in Clinical Gene Therapeutic Trials.
Birgit Lorenz, Erika Wegscheider, Christian Hamel, Markus N Preising, Knut Stieger

Ophthalmic Res· November 2017

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Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and mutated in Heimler syndrome.
Christine Neuhaus, Tobias Eisenberger, Christian Decker, Sandra Nagl, Cornelia Blank, Markus Preising

Mol Genet Genomic Med· September 2017

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Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.
Stylianos Michalakis, Lior Shaltiel, Vithiyanjali Sothilingam, Susanne Koch, Verena Schludi, Markus N Preising

Hum Mol Genet· January 2017

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Rebound macular edema following oral acetazolamide therapy for juvenile X-linked retinoschisis in an Italian family.
Maria Silvana Galantuomo, Maurizio Fossarello, Alberto Cuccu, Roberta Farci, Markus N Preising

Clin Ophthalmol· November 2016

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Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.
Galuh D N Astuti, Mette Bertelsen, Markus N Preising, Muhammad Ajmal, Birgit Lorenz

Eur J Hum Genet· July 2016

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Bestrophin 1--Phenotypes and Functional Aspects in Bestrophinopathies.
Caroline Pasquay, Lu Fei Wang, Birgit Lorenz, Markus N Preising

Ophthalmic Genet· April 2016

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Shared decision-making, control preferences and psychological well-being in patients with RPE65 deficiency awaiting experimental gene therapy.
Monika Nelles, Knut Stieger, Markus N Preising, Johannes Kruse, Birgit Lorenz

Ophthalmic Res· March 2016

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Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
Claire Angebault, Pierre-Olivier Guichet, Yasmina Talmat-Amar, Majida Charif, Sylvie Gerber, Markus Preising

Am J Hum Genet· November 2015

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Normative values of peripheral retinal thickness measured with Spectralis OCT in healthy young adults.
Yaroslava Wenner, Stephan Wismann, Markus N Preising, Melanie Jäger, Jörn Pons-Kühnemann

Graefes Arch Clin Exp Ophthalmol· August 2014

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Clinical utility gene card for: Oculocutaneous albinism.
Karen Grønskov, Karen Brøndum-Nielsen, Birgit Lorenz, Markus N Preising

Eur J Hum Genet· August 2014

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Expansion of ocular phenotypic features associated with mutations in ADAMTS18.
Aman Chandra, Gavin Arno, Kathleen Williamson, Panagiotis I Sergouniotis, Markus N Preising

JAMA Ophthalmol· August 2014

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Optical Coherence Tomography (OCT) Device Independent Intraretinal Layer Segmentation.
Alexander Ehnes, Yaroslava Wenner, Christoph Friedburg, Markus N Preising, Wadim Bowl

Transl Vis Sci Technol· February 2014

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