Publications by authors named "Pascal Escher"

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AI-Assisted Optical Coherence Tomography Segmentation for Enhanced Diagnosis of Inherited Retinal Diseases.
Virginie G Peter, Michel Hayoz, Davide Scandella, Raphael Sznitman, Pascal Escher

Transl Vis Sci Technol· December 2025

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Autosomal Dominant RP1 c.2613dupA (p.Arg872Thrfs*2) Variant Retinitis Pigmentosa Shows Linear Loss of the Ellipsoid Zone over Time with Highly Variable Phenotype.
Nastasia Foa, Maximilian Pfau, Georg Ansari, Giuseppe Cancian, Gabriela Grimaldi, Pascal Escher

Ophthalmologica· July 2025

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Multimodal Imaging Evaluation of Myocardial Involvement in Rare Oculoleptomeningeal Hereditary Transthyretin Amyloidosis.
Moritz J Hundertmark, Martin Zinkernagel, Tatiana Brémova-Ertl, Pascal Escher, Anina Bauer

JACC Case Rep· July 2025

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Correction: ENABLE-App-Based Digital Capture and Intervention of Patient-Reported Quality of Life, Adverse Events, and Treatment Satisfaction in Breast Cancer: Protocol for a Randomized Controlled Trial.
Thomas M Deutsch, Léa L Volmer, Manuel Feisst, Laura Bodenbeck, Kathrin Hassdenteufel, Pascal Escher

JMIR Res Protoc· June 2025

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ENABLE-App-Based Digital Capture and Intervention of Patient-Reported Quality of Life, Adverse Events, and Treatment Satisfaction in Breast Cancer: Protocol for a Randomized Controlled Trial.
Thomas M Deutsch, Léa L Volmer, Manuel Feisst, Laura Bodenbeck, Kathrin Hassdenteufel, Pascal Escher

JMIR Res Protoc· May 2025

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A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models.
Julio C Corral-Serrano, Veronika Vaclavik, Stijn Van de Sompele, Karolina Kaminska, Katarina Jovanovic, Pascal Escher

Hum Mol Genet· April 2025

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Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries: An International Survey by the European Vision Institute.
Giacomo Calzetti, Kerstin Schwarzwälder, Giorgia Ottonelli, Karolina Kaminska, Rupert Wolfgang Strauss, Pascal Escher

Ophthalmic Res· August 2024

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App-based assessment of patient-reported outcomes in the Molecular Tumor Board in the Center for Personalized Medicine-(TRACE).
Lorenz Dörner, Lucia Grosse, Felix Stange, Hanni Hille, Sylvia Kurz, Pascal Escher

Neurooncol Pract· June 2024

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Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland.
Giovanni Marco Conti, Veronika Vaclavik, Carlo Rivolta, Pascal Escher, Daniel Francis Schorderet

Ophthalmic Res· April 2024

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Progressive Visual Loss Is Not Always Accompanied by Neurodegenerative Disorder in Juvenile Neuronal Ceroid Lipofuscinosis: A Case Report.
Felix Hundsberger, Pascal Escher, Veit Sturm, Margarita G Todorova

Klin Monbl Augenheilkd· April 2024

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Systemic Lipopolysaccharide Exposure Exacerbates Choroidal Neovascularization in Mice.
Ioanna Tsioti, Beatrice L Steiner, Pascal Escher, Martin S Zinkernagel, Peter M Benz

Ocul Immunol Inflamm· January 2024

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Expanding Genotype/Phenotype Correlation in 2p11.2-p12 Microdeletion Syndrome.
Alessandra Ferrario, Nijas Aliu, Claudine Rieubland, Sébastian Vuilleumier, Hilary M Grabe, Pascal Escher

Genes (Basel)· December 2023

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High-Resolution Optical Coherence Tomography in Healthy Individuals Provides Resolution at the Cellular and Subcellular Levels.
Jelena Reche, Andrea B Stocker, Virgilia Henchoz, Oussama Habra, Pascal Escher

Transl Vis Sci Technol· July 2023

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Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous PRPH2 Pathogenic Variant.
Ayse Sanlialp, Pascal Escher, André Schaller, Margarita Todorova

Klin Monbl Augenheilkd· April 2023

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SPATA7-Associated Juvenile Retinitis Pigmentosa in Two Brothers from a Consanguineous Iraqi Family in Switzerland.
Faady Yahya, Pascal Escher, Carlo Rivolta, Hendrik Pn Scholl, Francoise Roulez

Klin Monbl Augenheilkd· April 2023

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The Value of a Combined Ophthalmogenetic Approach in Differentiating a Presumed Case of Isolated Retinitis Pigmentosa from Refsum Disease.
Felix Hundsberger, Pascal Escher, André Schaller, Christophe Valmaggia, Margarita G Todorova

Klin Monbl Augenheilkd· April 2023

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Endothelial Toll-like receptor 4 is required for microglia activation in the murine retina after systemic lipopolysaccharide exposure.
Ioanna Tsioti, Beatrice L Steiner, Pascal Escher, Martin S Zinkernagel, Peter M Benz

J Neuroinflammation· February 2023

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c.-61G>A in OVOL2 is a Pathogenic 5' Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1.
Lucas Janeschitz-Kriegl, Dhryata Kamdar, Mathieu Quinodoz, Karolina Kaminska, Marc Folcher, Pascal Escher

Cornea· January 2022

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Author Correction: In vivo analysis of onset and progression of retinal degeneration in the Nr2e3 mouse model of enhanced S-cone sensitivity syndrome.
Giulia Venturini, Despina Kokona, Beatrice L Steiner, Emanuele G Bulla, Joel Jovanovic, Pascal Escher

Sci Rep· October 2021

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In vivo analysis of onset and progression of retinal degeneration in the Nr2e3 mouse model of enhanced S-cone sensitivity syndrome.
Giulia Venturini, Despina Kokona, Beatrice L Steiner, Emanuele G Bulla, Joel Jovanovic, Pascal Escher

Sci Rep· September 2021

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Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients.
Virginie M M Buhler, Lieselotte Berger, André Schaller, Martin S Zinkernagel, Sebastian Wolf, Pascal Escher

Genes (Basel)· May 2021

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Fluorescence Lifetime Patterns of Retinal Pigment Epithelium Atrophy in Patients with Stargardt Disease and Age-Related Macular Degeneration.
Yasmin Solberg, Chantal Dysli, Pascal Escher, Lisa Berger, Sebastian Wolf

Ophthalmologica· March 2021

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Optical Coherence Tomography Analysis of Cystoid Macular Edema in Retinal Dystrophy Treated with Oral Acetazolamide: Two Cases.
Vasileia Chatzistergiou, Ioannis Papasavvas, Pascal Escher, Jacques Durig, Jean Vaudaux

Klin Monbl Augenheilkd· April 2020

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Longitudinal case study and phenotypic multimodal characterization of McArdle disease-linked retinopathy: insight into pathomechanisms.
Veronika Vaclavik, Francine Naderi, André Schaller, Pascal Escher

Ophthalmic Genet· February 2020

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RETINAL FLECKS IN STARGARDT DISEASE REVEAL CHARACTERISTIC FLUORESCENCE LIFETIME TRANSITION OVER TIME.
Yasmin Solberg, Chantal Dysli, Pascal Escher, Lisa Berger, Sebastian Wolf

Retina· May 2019

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