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ARVO Annual Meeting Abstract June 2023

Taurin supplementation in two brothers with a homozygous mutation in SLC6A6

Markus N Preising; Kerstin Holve; Sandra Schuetz; Borros Arneth; Christian Jux; Andreas Hahn; Christoph Friedburg

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1535.

ARVO Annual Meeting Abstract July 2019

Genotype-Phenotype Correlation in Inherited Retinal Diseases Caused By Biallelic CEP290 Variations

Birgit Lorenz; Ute Schneider; Hanno J Bolz; Christoph Friedburg; Monika Andrassi-Darida; Markus N Preising

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4515.

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.

ARVO Annual Meeting Abstract June 2015

The relationship between ROP risk factors and central visual function in former premature children aged 6 to 12 years: interim results from the GRANIT study

Birgit Lorenz; Wadim Bowl; Kerstin Holve; Silke Schweinfurth; Christoph Friedburg; Knut Stieger; Monika Andrassi-Darida

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):952.

ARVO Annual Meeting Abstract April 2014

Functional and morphological long-term changes of the inner retina in primary school aged children with a history of ROP

Wadim Bowl; Monika Andrassi-Darida; Christoph Friedburg; Magdalena Bokun; Knut Stieger; Birgit Lorenz

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):4496.

ARVO Annual Meeting Abstract April 2014

Increasing severity of ROP after birth correlates with the level of functional and morphological retinal alterations at primary school age

Birgit Lorenz; Monika Andrassi-Darida; Christoph Friedburg; Magdalena Bokun; Knut Stieger; Wadim Bowl

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):5906.

Articles February 2014

Optical Coherence Tomography (OCT) Device Independent Intraretinal Layer Segmentation

PDF

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

Includes: Supplemental Content

Visual Psychophysics and Physiological Optics July 2013

Improving Detection of Mild Loss of Retinal Light Increment Sensitivity at the Posterior Pole With the Microperimeter MP1

PDF

Wadim Bowl; Birgit Lorenz; Melanie Jäger; Christoph Friedburg
TAGS: attenuation, box plot, color, eye, fovea centralis, fundus autofluorescence imaging, ophthalmoscopy, pathology, pathophysiology, perimetry
Invest. Ophthalmol. Vis. Sci.. 2013; 54(7):4666-4674. https://doi.org/10.1167/iovs.12-11241

Multidisciplinary Ophthalmic Imaging June 2013

Automated Segmentation of Pathological Cavities in Optical Coherence Tomography Scans

PDF

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

ARVO Annual Meeting Abstract June 2013

Correlation of morphology and function in a mouse model of X-linked retinitis pigmentosa

Dorothee Roell; Jutta Schlegel; Christoph Friedburg; Birgit Lorenz; Knut Stieger

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):660.

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

PDF

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

PDF

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

ARVO Annual Meeting Abstract March 2012

Fundus-controlled Mesopic Perimetry With A Commercial Microperimeter And An External Optical Filter

Christoph Friedburg; Wadim Bowl; Birgit Lorenz

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4843.

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.

Clinical and Epidemiologic Research November 2011

Long-Term Follow-Up of the Human Phenotype in Three Siblings with Cone Dystrophy Associated with a Homozygous p.G461R Mutation of KCNV2

PDF

Christoph Friedburg; Bernd Wissinger; Maria Schambeck; Michael Bonin; Susanne Kohl; Birgit Lorenz
TAGS: cone dystrophy, electroretinography, follow-up, homozygote, mutation, phenotype, relationship - sibling, rod photoreceptors, retinal cone, perimetry
Invest. Ophthalmol. Vis. Sci.. 2011; 52(12):8621-8629. https://doi.org/10.1167/iovs.11-8187

ARVO Annual Meeting Abstract April 2011

Autosomal Recessive Achromatopsia Is Associated With Foveal Changes In Spectral Domain Optical Coherence Tomography And Fundus Autofluorescence

Christoph Friedburg; Julia Hoeges; Susanne Kohl; Birgit Lorenz

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):1024.

ARVO Annual Meeting Abstract April 2011

Chromatic Pupillography and RPE65 Deficiency

Birgit Lorenz; Elisabeth Strohmayr; Steffen Zahn; Markus N. Preising; Christoph Friedburg; Knut Stieger

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):3891.

ARVO Annual Meeting Abstract April 2010

RD3 Mutation in a Consanguineous LCA Family

B. Lorenz; N. Hausotter-Will; C. F. Friedburg; F. Rüschendorf; M. N. Preising

Invest. Ophthalmol. Vis. Sci.. 2010; 51(13):1655.

ARVO Annual Meeting Abstract April 2010

Molecular Genetic Evidence That Nonsense Mediated Decay (NMD) is the Mechanism Underlying Autosomal Recessive Bestrophinopathy (ARB)

M. N. Preising; C. F. Friedburg; M. Jäger; B. Lorenz

Invest. Ophthalmol. Vis. Sci.. 2010; 51(13):3089.

Retina December 2009

Genotyping Microarray for CSNB-Associated Genes

PDF

Christina Zeitz; Stephan Labs; Birgit Lorenz; Ursula Forster; Janne Üksti; Hester Y. Kroes; Elfride De Baere; Bart P. Leroy; Frans P. M. Cremers; Mariana Wittmer; Maria M. van Genderen; José-Alain Sahel; Isabelle Audo; Charlotte M. Poloschek; Saddek Mohand-Saïd; Johannes C. Fleischhauer; Ulrike Hüffmeier; Veselina Moskova-Doumanova; Alex V. Levin; Christian P. Hamel; Dorothee Leifert; Francis L. Munier; Daniel F. Schorderet; Eberhart Zrenner; Christoph Friedburg; Bernd Wissinger; Susanne Kohl; Wolfgang Berger
TAGS: night blindness, congenital stationary, genotype determination, genes, mutation
Invest. Ophthalmol. Vis. Sci.. 2009; 50(12):5919-5926. https://doi.org/10.1167/iovs.09-3548

Includes: Supplemental Content

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Taurin supplementation in two brothers with a homozygous mutation in SLC6A6

Genotype-Phenotype Correlation in Inherited Retinal Diseases Caused By Biallelic CEP290 Variations

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

The relationship between ROP risk factors and central visual function in former premature children aged 6 to 12 years: interim results from the GRANIT study

Functional and morphological long-term changes of the inner retina in primary school aged children with a history of ROP

Increasing severity of ROP after birth correlates with the level of functional and morphological retinal alterations at primary school age

Optical Coherence Tomography (OCT) Device Independent Intraretinal Layer Segmentation

Improving Detection of Mild Loss of Retinal Light Increment Sensitivity at the Posterior Pole With the Microperimeter MP1

Automated Segmentation of Pathological Cavities in Optical Coherence Tomography Scans

Correlation of morphology and function in a mouse model of X-linked retinitis pigmentosa

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

Fundus-controlled Mesopic Perimetry With A Commercial Microperimeter And An External Optical Filter

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

Long-Term Follow-Up of the Human Phenotype in Three Siblings with Cone Dystrophy Associated with a Homozygous p.G461R Mutation of KCNV2

Autosomal Recessive Achromatopsia Is Associated With Foveal Changes In Spectral Domain Optical Coherence Tomography And Fundus Autofluorescence

Chromatic Pupillography and RPE65 Deficiency

RD3 Mutation in a Consanguineous LCA Family

Molecular Genetic Evidence That Nonsense Mediated Decay (NMD) is the Mechanism Underlying Autosomal Recessive Bestrophinopathy (ARB)

Genotyping Microarray for CSNB-Associated Genes

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