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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

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

Special Issue August 2018

Choroidal Flow Signal in Late-Onset Stargardt Disease and Age-Related Macular Degeneration: An OCT-Angiography Study

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Philipp L. Müller; Maximilian Pfau; Philipp T. Möller; Jennifer Nadal; Matthias Schmid; Moritz Lindner; Luis de Sisternes; Heidi Stöhr; Bernhard H. F. Weber; Christine Neuhaus; Philipp Herrmann; Steffen Schmitz-Valckenberg; Frank G. Holz; Monika Fleckenstein
TAGS: angiogram, atrophy, age-related macular degeneration, stargardt's disease, chief complaint, fluid flow
Invest. Ophthalmol. Vis. Sci.. 2018; 59(4):AMD122-AMD131. doi: 10.1167/iovs.18-23819

Includes: Supplemental Content

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

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

Retina June 2016

Frequency, Phenotypic Characteristics and Progression of Atrophy Associated With a Diseased Bruch's Membrane in Pseudoxanthoma Elasticum

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Martin Gliem; Philipp L. Müller; Johannes Birtel; Doris Hendig; Frank G. Holz; Peter Charbel Issa
TAGS: phenotype, atrophy, bruch's basal membrane, pseudoxanthoma elasticum
Invest. Ophthalmol. Vis. Sci.. 2016; 57(7):3323-3330. doi: 10.1167/iovs.16-19388

Includes: Supplemental Content

Retina March 2016

Perception of Haidinger Brushes in Macular Disease Depends on Macular Pigment Density and Visual Acuity

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Philipp L. Müller; Simone Müller; Martin Gliem; Kristina Küpper; Frank G. Holz; Wolf M. Harmening; Peter Charbel Issa
TAGS: perception, visual acuity, eye, disorder of macula of retina, macular pigment
Invest. Ophthalmol. Vis. Sci.. 2016; 57(3):1448-1456. doi: 10.1167/iovs.15-19004

Includes: Supplemental Content

Review January 2016

M-sequences in ophthalmic electrophysiology

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Philipp L. Müller; Thomas Meigen
TAGS: electrophysiology, eye, medical history, waveforms
Journal of Vision. 2016; 16(1):15. doi: 10.1167/16.1.15

Includes: Multimedia, Supplemental Content

Retina December 2015

Monoallelic ABCA4 Mutations Appear Insufficient to Cause Retinopathy: A Quantitative Autofluorescence Study

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Philipp L. Müller; Martin Gliem; Elisabeth Mangold; Hanno J. Bolz; Robert P. Finger; Myra McGuinness; Christian Betz; Zhichun Jiang; Bernhard H. F. Weber; Robert E. MacLaren; Frank G. Holz; Roxana A. Radu; Peter Charbel Issa
TAGS: phenotype, mutation, retinal diseases, mice, autofluorescence
Invest. Ophthalmol. Vis. Sci.. 2015; 56(13):8179-8186. doi: 10.1167/iovs.15-17629

Includes: Supplemental Content

Retina December 2015

Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene

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Panagiotis I. Sergouniotis; Martin McKibbin; Anthony G. Robson; Hanno J. Bolz; Elfride De Baere; Philipp L. Müller; Raoul Heller; Mohammed E. El-Asrag; Kristof Van Schil; Vincent Plagnol; Carmel Toomes; UK Inherited Retinal Disease Consortium; Manir Ali; Graham E. Holder; Peter Charbel Issa; Bart P. Leroy; Chris F. Inglehearn; Andrew R. Webster
TAGS: mutation, genes, retinal diseases, autosomal recessive inheritance, retinal dystrophies
Invest. Ophthalmol. Vis. Sci.. 2015; 56(13):8083-8090. doi: 10.1167/iovs.15-17604

Includes: Supplemental Content

Retina April 2015

Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes

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Martin Gliem; Philipp L. Müller; Elisabeth Mangold; Frank G. Holz; Hanno J. Bolz; Heidi Stöhr; Bernhard H. F. Weber; Peter Charbel Issa
TAGS: phenotype, mutation, drusen, atrophy, choroidal neovascularization, family, treatment outcome
Invest. Ophthalmol. Vis. Sci.. 2015; 56(4):2664-2676. doi: 10.1167/iovs.14-15733

Includes: Supplemental Content

ARVO Annual Meeting Abstract April 2014

Functional relevance of autofluorescence patterns in Stargardt disease

Philipp Lothar Müller; Martin Gliem; Frank G Holz; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):5014. 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

Spectrally Resolved Fundus Autofluorescence in ABCA4 -Related Retinopathy

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

Choroidal Flow Signal in Late-Onset Stargardt Disease and Age-Related Macular Degeneration: An OCT-Angiography Study

Quantitative Fundus Autofluorescence in Pseudoxanthoma Elasticum

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

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

Frequency, Phenotypic Characteristics and Progression of Atrophy Associated With a Diseased Bruch's Membrane in Pseudoxanthoma Elasticum

Perception of Haidinger Brushes in Macular Disease Depends on Macular Pigment Density and Visual Acuity

M-sequences in ophthalmic electrophysiology

Monoallelic ABCA4 Mutations Appear Insufficient to Cause Retinopathy: A Quantitative Autofluorescence Study

Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene

Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes

Functional relevance of autofluorescence patterns in Stargardt disease

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