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  1. Article ; Online: Visusverlust: Kommt die Leber´sche hereditäre Optikusneuropathie in Frage?

    Priglinger, Claudia

    MMW Fortschritte der Medizin

    2023  Volume 165, Issue Suppl 1, Page(s) 18–19

    Abstract: Leber´s hereditary optic neuropathy (LHON) disease is a mitochondriopathy characterized by dysfunction and later on degeneration of retinal ganglion cells, in particular those contributing to the papillomacular bundle, leading to optic atrophy. Being ... ...

    Title translation Considering Leber´s hereditary optic neuropathy.
    Abstract Leber´s hereditary optic neuropathy (LHON) disease is a mitochondriopathy characterized by dysfunction and later on degeneration of retinal ganglion cells, in particular those contributing to the papillomacular bundle, leading to optic atrophy. Being devoid of pathognomonic features clinical diagnosis is difficult, but LHON should be suspected in all patients presenting with a clinical picture of bilateral or painless optic neuritis, irrespective of age, and the diagnosis can be confirmed by molecular genetic testing. Since 2105 Idebenone is available as a treatment option and a gene therapy for patients with the pathogenic m.11778G>A mutation has successfully been tested in clinical trials.
    MeSH term(s) Humans ; Optic Atrophy, Hereditary, Leber/diagnosis ; Optic Atrophy, Hereditary, Leber/genetics ; Optic Atrophy, Hereditary, Leber/therapy
    Language German
    Publishing date 2023-02-27
    Publishing country Germany
    Document type English Abstract ; Journal Article
    ZDB-ID 1478211-x
    ISSN 1613-3560 ; 1438-3276
    ISSN (online) 1613-3560
    ISSN 1438-3276
    DOI 10.1007/s15006-023-2311-7
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: RPE65-Netzhautdystrophien: vom Spektrum des klinischen Bildes bis zur Gentherapie.

    Stingl, Katarina / Priglinger, Claudia

    Klinische Monatsblatter fur Augenheilkunde

    2024  Volume 241, Issue 3, Page(s) 257–258

    Title translation RPE65-retinal Dystrophies: From the Spectrum of the Clinical Picture to Gene Therapy.
    MeSH term(s) Humans ; Retinal Dystrophies/diagnosis ; Retinal Dystrophies/genetics ; Retinal Dystrophies/therapy ; Genetic Therapy ; cis-trans-Isomerases/genetics ; Mutation
    Chemical Substances cis-trans-Isomerases (EC 5.2.-)
    Language German
    Publishing date 2024-03-20
    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-2237-7300
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Das Auge als Fenster zur Cystinose.

    Priglinger, Claudia / Fischer, M Dominik

    Klinische Monatsblatter fur Augenheilkunde

    2023  Volume 240, Issue 3, Page(s) 248–249

    Title translation The Eye as a Window to Cystinosis.
    MeSH term(s) Humans ; Cystinosis/complications ; Cystinosis/diagnosis ; Eye
    Language German
    Publishing date 2023-03-28
    Publishing country Germany
    Document type Editorial
    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-2004-9072
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: RPE65-Netzhautdystrophien: vom Spektrum des klinischen Bildes bis zur Gentherapie

    Stingl, Katarina / Priglinger, Claudia

    Klinische Monatsblätter für Augenheilkunde

    2024  Volume 241, Issue 03, Page(s) 257–258

    Language German
    Publishing date 2024-03-01
    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-2237-7300
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  5. Article ; Online: RPE65-Associated Retinal Dystrophies: Phenotypes and Treatment Effects with Voretigene Neparvovec.

    Stingl, Katarina / Priglinger, Claudia / Herrmann, Philipp

    Klinische Monatsblatter fur Augenheilkunde

    2024  Volume 241, Issue 3, Page(s) 259–265

    Abstract: Retinal dystrophies linked to ... ...

    Title translation RPE65 assoziierte Netzhautdystrophien: Phänotypen und Therapieeffekte mit Voretigen Neparvovec.
    Abstract Retinal dystrophies linked to the
    MeSH term(s) Adult ; Child ; Humans ; cis-trans-Isomerases/genetics ; Genetic Therapy ; Mutation ; Night Blindness/therapy ; Phenotype ; Retinal Dystrophies/diagnosis ; Retinal Dystrophies/genetics ; Retinal Dystrophies/therapy ; Retinitis Pigmentosa/diagnosis ; Retinitis Pigmentosa/genetics ; Retinitis Pigmentosa/therapy
    Chemical Substances cis-trans-Isomerases (EC 5.2.-) ; retinoid isomerohydrolase (EC 3.1.1.64)
    Language English
    Publishing date 2024-03-20
    Publishing country Germany
    Document type Review ; 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-2227-3671
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: From Bench to Bedside: Herausforderungen in der Entwicklung von gentherapeutischen Ansätzen.

    Priglinger, Claudia / Fischer, M Dominik

    Klinische Monatsblatter fur Augenheilkunde

    2022  Volume 239, Issue 3, Page(s) 261–262

    Title translation From Bench to Bedside: Challenges in the Development of Genetherapeutic Approaches.
    MeSH term(s) Humans ; Translational Research, Biomedical
    Language German
    Publishing date 2022-03-22
    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-1739-3825
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article: RPE65-Associated Retinal Dystrophies: Phenotypes and Treatment Effects with Voretigene Neparvovec

    Stingl, Katarina / Priglinger, Claudia / Herrmann, Philipp

    Klinische Monatsblätter für Augenheilkunde

    2024  Volume 241, Issue 03, Page(s) 259–265

    Abstract: Retinal dystrophies linked to the RPE65 gene are mostly fast-progressing retinal diseases, with childhood onset of night blindness and progressive visual loss up to the middle adult age. Rare phenotypes linked to this gene are known with congenital ... ...

    Abstract Retinal dystrophies linked to the RPE65 gene are mostly fast-progressing retinal diseases, with childhood onset of night blindness and progressive visual loss up to the middle adult age. Rare phenotypes linked to this gene are known with congenital stationary night blindness or slowly progressing retinitis pigmentosa, as well as an autosomal dominant c.1430A>G (p.Asp477Gly) variant. This review gives an overview of the current knowledge of the clinical phenotypes, as well as experience with the efficacy and safety of the approved gene augmentation therapy voretigene neparvovec.
    Keywords retinal dystrophy ; retinitis pigmentosa ; voretigene neparvovec ; genotype-phenotype correlation ; RPE65 ; gene therapy ; Netzhautdystrophie ; Voretigen Neparvovec ; Gentherapie ; RPE65 ; Genotyp-Phänotyp-Korrelation ; Retinitis pigmentosa
    Language English
    Publishing date 2024-03-01
    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-2227-3671
    Database Thieme publisher's database

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  8. Article ; Online: Editorial.

    Fischer, M Dominik / Priglinger, Claudia

    Klinische Monatsblatter fur Augenheilkunde

    2021  Volume 238, Issue 3, Page(s) 247–248

    Title translation Editorial.
    Language German
    Publishing date 2021-03-30
    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-1350-7233
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article: From Bench to Bedside: Herausforderungen in der Entwicklung von gentherapeutischen Ansätzen

    Priglinger, Claudia / Fischer, M. Dominik

    Klinische Monatsblätter für Augenheilkunde

    2022  Volume 239, Issue 03, Page(s) 261–262

    Language German
    Publishing date 2022-03-01
    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-1739-3825
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  10. Article: Editorial

    Fischer, M. Dominik / Priglinger, Claudia

    Klinische Monatsblätter für Augenheilkunde

    2021  Volume 238, Issue 03, Page(s) 247–248

    Language German
    Publishing date 2021-03-01
    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-1350-7233
    Database Thieme publisher's database

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