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Retina August 2019

A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon Skipping

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Peter Charbel Issa; Martin Gliem; Imran H. Yusuf; Johannes Birtel; Philipp L. Müller; Elisabeth Mangold; Susan M. Downes; Robert E. MacLaren; Christian Betz; Hanno J. Bolz
TAGS: exons, macula densa, macula lutea, mutation, phenotype, retinal diseases, silent mutations, homozygote
Invest. Ophthalmol. Vis. Sci.. 2019; 60(10):3388-3397. doi: 10.1167/iovs.18-26415

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

Quantitative fundus autofluorescence in macular and cone/cone-rod dystrophies

Martin Gliem; Johannes Birtel; Philipp L. Mueller; Frank G. Holz; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1333. doi:

ARVO Annual Meeting Abstract July 2019

Improved diagnosis of retinal laser injuries using near-infrared autofluorescence imaging

Samantha R De Silva; James E Neffendorf; Johannes Birtel; Philipp Herrmann; Susan M. Downes; Chetan K Patel; Darius Hildebrand; Martin Gliem; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1561. doi:

ARVO Annual Meeting Abstract July 2019

Dark adaptometry and dark-adapted two-color microperimetry in patients with Pseudoxanthoma elasticum

Kristina Hess; Martin Gliem; Maximilian Pfau; Philipp L. Mueller; Johannes Birtel; Frank G Holz; Peter Charbel Issa; Philipp Herrmann

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5031. doi:

ARVO Annual Meeting Abstract July 2019

Ocular phenotype and associations with systemic findings in patients with primary hyperoxaluria type I

Johannes Birtel; Philipp Herrmann; Sander F. Garrelfs; Simon Dulz; Yevgeniya Atiskova; Roselie M. Diederen; Martin Gliem; Florian Brinkert; Frank G Holz; Camiel Boon; Bernd Hoppe; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5424. doi:

ARVO Annual Meeting Abstract July 2019

Retinitis pigmentosa caused by variants in SNRNP200

Imran H Yusuf; Johannes Birtel; Morag Shanks; Penny Clouston; Susan M. Downes; Peter Charbel Issa; Robert E MacLaren

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4519. doi:

Multidisciplinary Ophthalmic Imaging January 2019

Spectrally Resolved Fundus Autofluorescence in ABCA4 -Related Retinopathy

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Chantal Dysli; Philipp L. Müller; Johannes Birtel; Frank G. Holz; Philipp Herrmann
TAGS: color, retinal diseases, diagnostic imaging, fundus autofluorescence imaging
Invest. Ophthalmol. Vis. Sci.. 2019; 60(1):274-281. doi: 10.1167/iovs.18-25755

Articles October 2018

Comparison of Green Versus Blue Fundus Autofluorescence in ABCA4 -Related Retinopathy

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Philipp L. Müller; Maximilian Pfau; Matthias M. Mauschitz; Philipp T. Möller; Johannes Birtel; Petrus Chang; Martin Gliem; Steffen Schmitz-Valckenberg; Monika Fleckenstein; Frank G. Holz; Philipp Herrmann
TAGS: atrophy, retinal diseases, diagnostic imaging, eye, global assessment of functioning, fundus autofluorescence imaging, shape
Trans. Vis. Sci. Tech.. 2018; 7(5):13. doi: 10.1167/tvst.7.5.13

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2018

Olfactory dysfunction in patients with CNGB1 -related retinitis pigmentosa

Peter Charbel Issa; Peggy Reuter; Laura Kuehlewein; Johannes Birtel; Martin Gliem; Anke Tropitzsch; Katherine Whitcroft; Hanno Bolz; Kenji Ishihara; Robert E MacLaren; Susan Downes; Akio Oishi; Eberhart Zrenner; Susanne Kohl; Thomas Hummel

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1565. doi:

ARVO Annual Meeting Abstract July 2018

The retinal phenotype associated with the frequent, synonymous c.783G>A mutation in CDHR1

Imran H. Yusuf; Martin Gliem; Johannes Birtel; Philipp L Muller; Elisabeth Mangold; Hanno Bolz; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3146. doi:

Retina December 2017

Quantitative Fundus Autofluorescence in Pseudoxanthoma Elasticum

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Martin Gliem; Philipp L. Müller; Johannes Birtel; Myra B. McGuinness; Robert P. Finger; Philipp Herrmann; Doris Hendig; Frank G. Holz; Peter Charbel Issa
TAGS: atrophy, bruch's basal membrane, lipofuscin, pseudoxanthoma elasticum, calcification, fundus autofluorescence imaging
Invest. Ophthalmol. Vis. Sci.. 2017; 58(14):6159-6165. doi: 10.1167/iovs.17-22007

Retina August 2017

Novel Insights Into the Phenotypical Spectrum of KIF11 -Associated Retinopathy, Including a New Form of Retinal Ciliopathy

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Johannes Birtel; Martin Gliem; Elisabeth Mangold; Lars Tebbe; Isabel Spier; Philipp L. Müller; Frank G. Holz; Christine Neuhaus; Uwe Wolfrum; Hanno J. Bolz; Peter Charbel Issa
TAGS: phenotype, retinal diseases, ciliopathies
Invest. Ophthalmol. Vis. Sci.. 2017; 58(10):3950-3959. doi: 10.1167/iovs.17-21679

Includes: Supplemental Content

Review July 2017

Algorithms for the Automated Analysis of Age-Related Macular Degeneration Biomarkers on Optical Coherence Tomography: A Systematic Review

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Maximilian W.M. Wintergerst; Thomas Schultz; Johannes Birtel; Alexander K. Schuster; Norbert Pfeiffer; Steffen Schmitz-Valckenberg; Frank G. Holz; Robert P. Finger
TAGS: drusen, atrophy, biological markers, age-related macular degeneration, review, systematic, optical coherence tomography, retinal pigment epithelial detachment
Trans. Vis. Sci. Tech.. 2017; 6(4):10. doi: 10.1167/tvst.6.4.10

Includes: Supplemental Content

Special Issue July 2017

Effective Dynamic Range and Retest Reliability of Dark-Adapted Two-Color Fundus-Controlled Perimetry in Patients With Macular Diseases

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Maximilian Pfau; Moritz Lindner; Philipp L. Müller; Johannes Birtel; Robert P. Finger; Wolf M. Harmening; Monika Fleckenstein; Frank G. Holz; Steffen Schmitz-Valckenberg
TAGS: color, perimetry, reliability, macular disorders, dynamic range
Invest. Ophthalmol. Vis. Sci.. 2017; 58(6):BIO158-BIO167. doi: 10.1167/iovs.17-21454

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

Effective dynamic range and retest-reliability of two-color dark-adapted fundus-controlled perimetry in patients with macular diseases

Maximilian Pfau; Moritz Lindner; Philipp Mueller; Johannes Birtel; Robert P. Finger; Wolf M. Harmening; Monika Fleckenstein; Frank G Holz; Steffen Schmitz-Valckenberg

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2481. doi:

ARVO Annual Meeting Abstract June 2017

Novel insights in KIF11 -related retinopathy

Johannes Birtel; Martin Gliem; Elisabeth Mangold; Lars Tebbe; Isabel Spier; Philipp Mueller; Frank G Holz; Christine Neuhaus; Uwe Wolfrum; Hanno J. Bolz; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2760. doi:

ARVO Annual Meeting Abstract June 2017

Quantitative fundus autofluorescence associated with a diseased Bruch membrane in pseudoxanthoma elasticum

Martin Gliem; Philipp Mueller; Johannes Birtel; Robert P. Finger; Frank G Holz; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3689. doi:

ARVO Annual Meeting Abstract June 2017

Quantitative Autofluorescence and Visual Function in ABCA4 -associated Retinopathy

Philipp Mueller; Martin Gliem; Myra McGuinness; Johannes Birtel; Frank G Holz; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4655. doi:

ARVO Annual Meeting Abstract June 2017

Near-Infrared Autofluorescence in Choroideremia: anatomical and functional correlations

Anna Paola Salvetti; Johannes Birtel; Kanmin Xue; Martin Gliem; Philipp Mueller; Frank G Holz; Robert E MacLaren; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4852. doi:

ARVO Annual Meeting Abstract September 2016

Clinical evaluation of an intensively genotyped cohort of macular and cone/cone-rod dystrophy patients

Johannes Birtel; Philipp L. Mueller; Martin Gliem; Elisabeth Mangold; Frank G Holz; Christine Neuhaus; Hanno Joern Bolz; Peter Charbel Issa

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

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A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon Skipping

Quantitative fundus autofluorescence in macular and cone/cone-rod dystrophies

Improved diagnosis of retinal laser injuries using near-infrared autofluorescence imaging

Dark adaptometry and dark-adapted two-color microperimetry in patients with Pseudoxanthoma elasticum

Ocular phenotype and associations with systemic findings in patients with primary hyperoxaluria type I

Retinitis pigmentosa caused by variants in SNRNP200

Spectrally Resolved Fundus Autofluorescence in ABCA4 -Related Retinopathy

Comparison of Green Versus Blue Fundus Autofluorescence in ABCA4 -Related Retinopathy

Olfactory dysfunction in patients with CNGB1 -related retinitis pigmentosa

The retinal phenotype associated with the frequent, synonymous c.783G>A mutation in CDHR1

Quantitative Fundus Autofluorescence in Pseudoxanthoma Elasticum

Novel Insights Into the Phenotypical Spectrum of KIF11 -Associated Retinopathy, Including a New Form of Retinal Ciliopathy

Algorithms for the Automated Analysis of Age-Related Macular Degeneration Biomarkers on Optical Coherence Tomography: A Systematic Review

Effective Dynamic Range and Retest Reliability of Dark-Adapted Two-Color Fundus-Controlled Perimetry in Patients With Macular Diseases

Effective dynamic range and retest-reliability of two-color dark-adapted fundus-controlled perimetry in patients with macular diseases

Novel insights in KIF11 -related retinopathy

Quantitative fundus autofluorescence associated with a diseased Bruch membrane in pseudoxanthoma elasticum

Quantitative Autofluorescence and Visual Function in ABCA4 -associated Retinopathy

Near-Infrared Autofluorescence in Choroideremia: anatomical and functional correlations

Clinical evaluation of an intensively genotyped cohort of macular and cone/cone-rod dystrophy patients

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