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  1. Article ; Online: Comment: Novel mutations in the

    Escher, Pascal

    Ophthalmic genetics

    2019  Volume 40, Issue 6, Page(s) 591

    MeSH term(s) Color Vision Defects ; Humans ; Mutation ; Rod Opsins/genetics
    Chemical Substances Rod Opsins
    Language English
    Publishing date 2019-02-01
    Publishing country England
    Document type Letter ; Research Support, Non-U.S. Gov't ; Comment
    ZDB-ID 1199279-7
    ISSN 1744-5094 ; 0167-6784 ; 1381-6810
    ISSN (online) 1744-5094
    ISSN 0167-6784 ; 1381-6810
    DOI 10.1080/13816810.2019.1573908
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  2. Article ; Online: Progressive Visual Loss Is Not Always Accompanied by Neurodegenerative Disorder in Juvenile Neuronal Ceroid Lipofuscinosis: A Case Report.

    Hundsberger, Felix / Escher, Pascal / Sturm, Veit / Todorova, Margarita G

    Klinische Monatsblatter fur Augenheilkunde

    2024  Volume 241, Issue 4, Page(s) 538–539

    Title translation In der juvenilen neuronalen Ceroid-Lipofuszinose muss ein fortgeschrittener Verlust der Sehstärke nicht zwangsläufig mit einer neurodegenerativen Beeinträchtigung einhergehen.
    MeSH term(s) Humans ; Male ; Diagnosis, Differential ; Neurodegenerative Diseases/diagnosis ; Neurodegenerative Diseases/complications ; Neuronal Ceroid-Lipofuscinoses/diagnosis ; Neuronal Ceroid-Lipofuscinoses/complications ; Neuronal Ceroid-Lipofuscinoses/genetics ; Vision Disorders/etiology ; Vision Disorders/diagnosis ; Child, Preschool
    Language English
    Publishing date 2024-04-23
    Publishing country Germany
    Document type Case Reports ; Journal Article
    ZDB-ID 80175-6
    ISSN 1439-3999 ; 0344-6360 ; 0344-6387 ; 0023-2165
    ISSN (online) 1439-3999
    ISSN 0344-6360 ; 0344-6387 ; 0023-2165
    DOI 10.1055/a-2227-4131
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous PRPH2 Pathogenic Variant.

    Sanlialp, Ayse / Escher, Pascal / Schaller, André / Todorova, Margarita

    Klinische Monatsblatter fur Augenheilkunde

    2023  Volume 240, Issue 4, Page(s) 536–543

    Abstract: Purpose: The aim of the study was to describe the clinical and genetic correlation of a c.469 G>A p.(Asp157Asn) heterozygous pathogenic variant in PRPH2 in two siblings of Italian origin.: Patients and methods: Both patients underwent ophthalmic ... ...

    Title translation Klinische Heterogenität bei 2 Geschwistern mit einer heterozygoten pathogenen PRPH2-Variante.
    Abstract Purpose: The aim of the study was to describe the clinical and genetic correlation of a c.469 G>A p.(Asp157Asn) heterozygous pathogenic variant in PRPH2 in two siblings of Italian origin.
    Patients and methods: Both patients underwent ophthalmic examination, electrophysiological testing, autofluorescence imaging, and optical coherence tomography (OCT). Screening for pathogenic variants of the obtained DNA from the family members was carried out.
    Results: The 52-year-old (♀, index patient) and 50-year-old (♂) siblings had BCVA (OD and OS) of 20/20 and 20/16 (♀) and 20/25 and 20/40 (♂), respectively, and suffered increased sensitivity to glare. Yellow irregular macular deposits, numerous small irregular hypo- and hyperreflective spots at the posterior pole, a patchy loss of photoreceptors, and retinal pigment epithelium (RPE) in the perifoveal region were seen. Electrophysiology showed dysfunction of rods and cones, with more affected cone dysfunction in the index patient, contrary to the generalised rod dysfunction in the brother of the index patient. The clinical, electrophysiological, and multimodal imaging findings of both siblings pointed towards Stargardt retinopathy with heterogenic presentation. The DNA analysis identified an autosomal dominant c.469 G>A p.(Asp157Asn) heterozygous pathogenic variant in PRPH2 associated with autosomal dominant cone-rod dystrophy and rod-cone dystrophy. PRPH2 codes for peripherin-2, a membrane protein that consists of 346 amino acids.
    Conclusions: Our findings confirm a heterogeneity in clinical presentation associated with pathogenic variants in PRPH2. It may follow either an autosomal dominant or an autosomal recessive mode of inheritance and show a very heterogeneous clinical manifestation of retinal degeneration, e.g., autosomal dominant retinitis pigmentosa (♂ sibling; II-3) and autosomal dominant cone-rod dystrophy (index ♀ sibling; II-2), autosomal dominant macular dystrophy, and also autosomal recessive retinitis pigmentosa.
    MeSH term(s) Humans ; Male ; Middle Aged ; Cone-Rod Dystrophies ; Electroretinography ; Mutation ; Pedigree ; Phenotype ; Retinal Dystrophies ; Retinitis Pigmentosa/diagnosis ; Retinitis Pigmentosa/genetics ; Siblings ; Tomography, Optical Coherence
    Chemical Substances PRPH2 protein, human
    Language English
    Publishing date 2023-04-25
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 80175-6
    ISSN 1439-3999 ; 0344-6360 ; 0344-6387 ; 0023-2165
    ISSN (online) 1439-3999
    ISSN 0344-6360 ; 0344-6387 ; 0023-2165
    DOI 10.1055/a-2034-6250
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Progressive Visual Loss Is Not Always Accompanied by Neurodegenerative Disorder in Juvenile Neuronal Ceroid Lipofuscinosis: A Case Report

    Hundsberger, Felix / Escher, Pascal / Sturm, Veit / Todorova, Margarita G.

    Klinische Monatsblätter für Augenheilkunde

    2024  Volume 241, Issue 04, Page(s) 538–539

    Language English
    Publishing date 2024-04-01
    Publisher Georg Thieme Verlag KG
    Publishing place Stuttgart ; New York
    Document type Article
    ZDB-ID 80175-6
    ISSN 1439-3999 ; 0023-2165 ; 0344-6360 ; 0344-6387
    ISSN (online) 1439-3999
    ISSN 0023-2165 ; 0344-6360 ; 0344-6387
    DOI 10.1055/a-2227-4131
    Database Thieme publisher's database

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  5. Article ; Online: Expanding Genotype/Phenotype Correlation in 2p11.2-p12 Microdeletion Syndrome.

    Ferrario, Alessandra / Aliu, Nijas / Rieubland, Claudine / Vuilleumier, Sébastian / Grabe, Hilary M / Escher, Pascal

    Genes

    2023  Volume 14, Issue 12

    Abstract: Chromosomal abnormalities on the short arm of chromosome 2 in the region p11.2 have been associated with developmental delay, intellectual disability, facial anomalies, abnormal ears, skeletal and genital malformations. Here we describe a patient with a ... ...

    Abstract Chromosomal abnormalities on the short arm of chromosome 2 in the region p11.2 have been associated with developmental delay, intellectual disability, facial anomalies, abnormal ears, skeletal and genital malformations. Here we describe a patient with a de novo interstitial heterozygous microdeletion on the short arm of chromosome 2 in the region p11.2-p12. He presents with facial dysmorphism characterized by a broad and low root of the nose and low-set protruding ears. Clinical examinations during follow-up visits revealed congenital pendular nystagmus, decreased visual acuity and psychomotor development disorder including intellectual disability. The heterozygous 5 Mb-microdeletion was characterized by an array CGH (Comparative Genomic Hybridization) analysis. In the past two decades, nine patients with microdeletions in this region have been identified by array CGH analysis and were reported in the literature. All these patients show psychomotor development disorder and outer and/or inner ear anomalies. In addition, most of the patients have mild to severe intellectual disability and show facial malformations. We reviewed the literature on PubMed and OMIM using the gene/loci names as search terms in an attempt to identify correlations between genes located within the heterozygous microdeletion and the clinical phenotype of the patient, in order to define a recognizable phenotype for the 2p11.2p12 microdeletion syndrome. We discuss additional symptoms that are not systematically present in all patients and contribute to a heterogeneous clinical presentation of this microdeletion syndrome.
    MeSH term(s) Male ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/diagnosis ; Chromosome Deletion ; Comparative Genomic Hybridization ; Phenotype ; Genotype
    Language English
    Publishing date 2023-12-16
    Publishing country Switzerland
    Document type Case Reports ; Review ; Journal Article
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes14122222
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  6. Article ; Online: Endothelial Toll-like receptor 4 is required for microglia activation in the murine retina after systemic lipopolysaccharide exposure.

    Tsioti, Ioanna / Steiner, Beatrice L / Escher, Pascal / Zinkernagel, Martin S / Benz, Peter M / Kokona, Despina

    Journal of neuroinflammation

    2023  Volume 20, Issue 1, Page(s) 25

    Abstract: Background: Clustering of microglia around the vasculature has been reported in the retina and the brain after systemic administration of lipopolysaccharides (LPS) in mice. LPS acts via activation of Toll-like receptor 4 (TRL4), which is expressed in ... ...

    Abstract Background: Clustering of microglia around the vasculature has been reported in the retina and the brain after systemic administration of lipopolysaccharides (LPS) in mice. LPS acts via activation of Toll-like receptor 4 (TRL4), which is expressed in several cell types including microglia, monocytes and vascular endothelial cells. The purpose of this study was to investigate the effect of systemic LPS in the pigmented mouse retina and the involvement of endothelial TLR4 in LPS-induced retinal microglia activation.
    Methods: C57BL/6J, conditional knockout mice that lack Tlr4 expression selectively on endothelial cells (Tek
    Results: Activation of microglia, infiltration of monocyte-derived macrophages, impaired ribbon synapse organization and retinal dysfunction were observed after the LPS exposure in C57BL/6J and Tek
    Conclusions: The findings of the present study suggest that systemic LPS exposure can have detrimental effects in the healthy retina and that TLR4 expressed on endothelial cells is essential for retinal microglia activation and retinal dysfunction upon systemic LPS challenge. This important finding provides new insights into the role of microglia-endothelial cell interaction in inflammatory retinal disease.
    MeSH term(s) Animals ; Mice ; Endothelial Cells/metabolism ; Lipopolysaccharides/toxicity ; Mice, Inbred C57BL ; Mice, Knockout ; Microglia/metabolism ; Retina/metabolism ; Toll-Like Receptor 4/genetics ; Toll-Like Receptor 4/metabolism
    Chemical Substances Lipopolysaccharides ; Toll-Like Receptor 4 ; Tlr4 protein, mouse
    Language English
    Publishing date 2023-02-04
    Publishing country England
    Document type Journal Article
    ZDB-ID 2156455-3
    ISSN 1742-2094 ; 1742-2094
    ISSN (online) 1742-2094
    ISSN 1742-2094
    DOI 10.1186/s12974-023-02712-1
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  7. Article ; Online: SPATA7-Associated Juvenile Retinitis Pigmentosa in Two Brothers from a Consanguineous Iraqi Family in Switzerland.

    Yahya, Faady / Escher, Pascal / Rivolta, Carlo / Scholl, Hendrik Pn / Roulez, Francoise

    Klinische Monatsblatter fur Augenheilkunde

    2023  Volume 240, Issue 4, Page(s) 544–548

    Title translation SPATA7-assoziierte juvenile Retinitis pigmentosa in 2 Brüdern aus einer konsanguinen irakischen Familie in der Schweiz.
    MeSH term(s) Male ; Humans ; Consanguinity ; Siblings ; Switzerland ; Iraq ; Retinitis Pigmentosa/diagnosis ; Retinitis Pigmentosa/genetics ; Mutation ; Pedigree ; DNA-Binding Proteins/genetics
    Chemical Substances SPATA7 protein, human ; DNA-Binding Proteins
    Language English
    Publishing date 2023-04-25
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 80175-6
    ISSN 1439-3999 ; 0344-6360 ; 0344-6387 ; 0023-2165
    ISSN (online) 1439-3999
    ISSN 0344-6360 ; 0344-6387 ; 0023-2165
    DOI 10.1055/a-2009-0498
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  8. Article ; Online: The Value of a Combined Ophthalmogenetic Approach in Differentiating a Presumed Case of Isolated Retinitis Pigmentosa from Refsum Disease.

    Hundsberger, Felix / Escher, Pascal / Schaller, André / Valmaggia, Christophe / Todorova, Margarita G

    Klinische Monatsblatter fur Augenheilkunde

    2023  Volume 240, Issue 4, Page(s) 549–552

    Title translation Der Wert eines kombinierten ophthalmogenetischen Ansatzes zur Unterscheidung einer vermuteten Refsum-Krankheit bei einem mutmaßlichen Fall von „isolierter“ Retinitis pigmentosa.
    MeSH term(s) Humans ; Refsum Disease ; Retinitis Pigmentosa/diagnosis
    Language English
    Publishing date 2023-04-25
    Publishing country Germany
    Document type Case Reports ; Journal Article
    ZDB-ID 80175-6
    ISSN 1439-3999 ; 0344-6360 ; 0344-6387 ; 0023-2165
    ISSN (online) 1439-3999
    ISSN 0344-6360 ; 0344-6387 ; 0023-2165
    DOI 10.1055/a-2055-1051
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  9. Article ; Online: Longitudinal case study and phenotypic multimodal characterization of McArdle disease-linked retinopathy: insight into pathomechanisms.

    Vaclavik, Veronika / Naderi, Francine / Schaller, André / Escher, Pascal

    Ophthalmic genetics

    2020  Volume 41, Issue 1, Page(s) 73–78

    Abstract: ... ...

    Abstract Background
    MeSH term(s) Electroretinography/methods ; Fluorescein Angiography/methods ; Glycogen Storage Disease Type V/complications ; Glycogen Storage Disease Type V/diagnostic imaging ; Glycogen Storage Disease Type V/pathology ; Humans ; Longitudinal Studies ; Male ; Middle Aged ; Phenotype ; Retinal Cone Photoreceptor Cells ; Retinal Diseases/complications ; Retinal Diseases/diagnostic imaging ; Retinal Diseases/pathology ; Tomography, Optical Coherence/methods ; Visual Acuity
    Language English
    Publishing date 2020-03-03
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 1199279-7
    ISSN 1744-5094 ; 0167-6784 ; 1381-6810
    ISSN (online) 1744-5094
    ISSN 0167-6784 ; 1381-6810
    DOI 10.1080/13816810.2020.1727536
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  10. Article ; Online: Systemic Lipopolysaccharide Exposure Exacerbates Choroidal Neovascularization in Mice.

    Tsioti, Ioanna / Steiner, Beatrice L / Escher, Pascal / Zinkernagel, Martin S / Benz, Peter M / Kokona, Despina

    Ocular immunology and inflammation

    2022  Volume 32, Issue 1, Page(s) 19–30

    Abstract: This study aims to investigate the effect of a systemic lipopolysaccharide (LPS) stimulus in the course of laser-induced choroidal neovascularization (CNV) in C57BL/6 J mice. A group of CNV-subjected mice received 1 mg/kg LPS via the tail vein ... ...

    Abstract This study aims to investigate the effect of a systemic lipopolysaccharide (LPS) stimulus in the course of laser-induced choroidal neovascularization (CNV) in C57BL/6 J mice. A group of CNV-subjected mice received 1 mg/kg LPS via the tail vein immediately after CNV induction. Mouse eyes were monitored
    MeSH term(s) Mice ; Animals ; Lipopolysaccharides/toxicity ; Mice, Inbred C57BL ; Choroidal Neovascularization/etiology ; Choroidal Neovascularization/genetics ; Macrophages ; Retina/pathology ; Fluorescein Angiography ; Disease Models, Animal
    Chemical Substances Lipopolysaccharides
    Language English
    Publishing date 2022-11-28
    Publishing country England
    Document type Journal Article
    ZDB-ID 1193873-0
    ISSN 1744-5078 ; 0927-3948
    ISSN (online) 1744-5078
    ISSN 0927-3948
    DOI 10.1080/09273948.2022.2147547
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