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Meeting Abstract (6)
Journal Articles (4)

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Investigative Ophthalmology & Visual Science (10)

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ARVO Annual Meeting Abstract (6)
Biochemistry and Molecular Biology (1)
Genetics (1)
Retina (1)
Special Issue (1)

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Eye Anatomy and Disorders (3)
Retina (3)
Genetics (2)
Biochemistry and Molecular Biology (1)
Low Vision (1)

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atrophy (2)
mutation (2)
phenotype (2)
stargardt's disease (2)
adenosine triphosphatases (1)
age-related macular degeneration (1)
angiogram (1)
chief complaint (1)
choroidal neovascularization (1)
drusen (1)

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ARVO Annual Meeting Abstract June 2024

AI-based identification of photoreceptor degeneration and retinal pigment epithelial atrophy in inherited macular dystrophies

Ulrich Kellner; Simone Kellner; Heidi Stöhrq; Christina Kiel; Silke Weinitz; Ghazaleh Farmand; Bernhard Hf Weber

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3099.

ARVO Annual Meeting Abstract July 2019

Alterations in microvilli on the surface of retinal Pigment Epithelial (RPE) cells in Sorsby’s Fundus Dystrophy

Mariya Ali; Jian Hua Qi; Alyson Wolk; Alecia Cutler; Heidi Stohr; Courtney Hershberger; Gautam Mahajan; Chandrasekhar Kothapalli; Bela Anand-Apte

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1913.

ARVO Annual Meeting Abstract July 2019

Towards comprehensive identification and functional characterization of deep-intronic ABCA4 variants in 1000 Stargardt disease cases

Mubeen Khan; Stephanie Cornelis; Marta del Pozo Valero; Muhammad Imran Khan; Heidi Stohr; Felix Grassmann; Marloes Steehouwer; Alexander Hoischen; Carmen Ayuso; Raj Ramesar; Isabelle Anne Meunier; Sabine defoort; Bernhard HF Weber; Claire-Marie Dhaenens; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2813.

ARVO Annual Meeting Abstract July 2019

North-Carolina Macular dystrophy like phenotype in a three generation pedigree wit autosomal dominant inheritance and exclusion of MCRD1

Ulrich Kellner; Heidi Stohr; Birgit Budde; Simone Kellner; Silke Weinitz; Ghazaleh Farmand; Birgit Lindau; Bernhard HF Weber

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4482.

Special Issue August 2018

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

PDF

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: age-related macular degeneration, angiogram, atrophy, fluid flow, stargardt's disease, chief complaint
Invest. Ophthalmol. Vis. Sci.. 2018; 59(4):AMD122-AMD131. https://doi.org/10.1167/iovs.18-23819

Includes: Supplemental Content

Biochemistry and Molecular Biology May 2018

Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease

PDF

Fabian Garces; Kailun Jiang; Laurie L. Molday; Heidi Stöhr; Bernhard H. Weber; Christopher J. Lyons; David Maberley; Robert S. Molday
TAGS: adenosine triphosphatases, mutation, phenotype, stargardt's disease, proteins, missense mutation
Invest. Ophthalmol. Vis. Sci.. 2018; 59(6):2305-2315. https://doi.org/10.1167/iovs.17-23364

Genetics January 2017

Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort—Impact of Selected Deep Intronic Variants and Common SNPs

PDF

Heidi L. Schulz; Felix Grassmann; Ulrich Kellner; Georg Spital; Klaus Rüther; Herbert Jägle; Karsten Hufendiek; Philipp Rating; Cord Huchzermeyer; Maria J. Baier; Bernhard H. F. Weber; Heidi Stöhr

Invest. Ophthalmol. Vis. Sci.. 2017; 58(1):394-403. https://doi.org/10.1167/iovs.16-19936

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2015

A Decade Of Diagnosing Inherited Retinal Dystrophies and Optic Atrophies: The Evolution Towards An Advanced Standardized Retinal Imaging and Molecular Genetic Approach

Ulrich Kellner; Heidi Stöhr; Susanne Kohl; Bernhard HF Weber; Bernd Wissinger; Teresa Neuhann; Silke Weinitz; Ghazaleh Farmand; Simone Kellner

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):3877.

Retina April 2015

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

PDF

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

Includes: Supplemental Content

ARVO Annual Meeting Abstract April 2011

The Na/K ATPase is Obligatory for Membrane Anchorage of Retinoschisin the Protein Involved in the Pathogenesis of X-linked Juvenile Retinoschisis

Bernhard H. Weber; Ulrike Friedrich; Thomas Loenhardt; Thomas Langmann; Heidi Stöhr

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):5379.

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Online ISSN: 1552-5783

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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