Der natürliche Verlauf der Choroideremie

Immanuel P. Seitz; M. Dominik Fischer

doi:10.1055/a-0841-3417

Klinische Monatsblätter für Augenheilkunde, Table of Contents

Klin Monbl Augenheilkd 2019; 236(03): 236-243
DOI: 10.1055/a-0841-3417

Übersicht

Georg Thieme Verlag KG Stuttgart · New York

Der natürliche Verlauf der Choroideremie

The Natural History of Choroideraemia

Immanuel P. Seitz

¹Universitäts-Augenklinik, Department für Augenheilkunde, Universitätsklinikum Tübingen

²Forschungsinstitut für Augenheilkunde, Department für Augenheilkunde, Eberhard Karls Universität Tübingen

,

M. Dominik Fischer

¹Universitäts-Augenklinik, Department für Augenheilkunde, Universitätsklinikum Tübingen

³Nuffield Laboratory of Ophthalmology, University of Oxford, Headley Way, OX39DU Oxford, United Kingdom of Great Britain and Northern Ireland

› Author Affiliations

Abstract

Zusammenfassung

Seit ihrer Erstbeschreibung im Jahr 1872 herrscht um den natürlichen Verlauf der Choroideremie eine rege und in Teilen bis heute andauernde akademische Debatte. Aufgrund der Seltenheit der Erkrankung verlief diese traditionell weitgehend am Rande des klinisch geprägten Interessenhorizonts. Nun jedoch hat die Entwicklung grundlegend neuer, potenziell verlaufsmodifizierender Therapieansätze die Frage nach dem natürlichen Verlauf der Chorioideremie ins Zentrum der Aufmerksamkeit eines größeren Fachpublikums gerückt. Dieser Übersichtsartikel subsumiert den aktuellen Stand der Fachliteratur zum natürlichen Verlauf dieser seltenen Erkrankung und illustriert dessen Eigenheiten anhand eines übersichtlichen 2-Phasen-Modells. Neben einer ausführlichen Besprechung klinisch gängiger Modalitäten liegt der Fokus des Manuskripts auf der Ausarbeitung forschungsrelevanter Fragestellungen wie der intraindividuellen Symmetrie sowie der Etablierung neuer Endpunkte. Darüber hinaus werden die Limitationen bisheriger Studien diskutiert und Empfehlungen für zukünftige Beobachtungsstudien entwickelt.

Abstract

Since its first description in 1872, there has been a lively academic debate about the natural history of choroideremia. Due to the low prevalence of choroideremia, interest in this discussion has been limited to subspecialists. However, the current development of novel, potentially disease-modifying therapies has sparked the attention of a larger professional audience. This review summarises the literature around the natural history of the disease and illustrates its key aspects using a simple two-stage model. Apart from a comprehensive discussion of ubiquitous clinical modalities, the manuscript reviews scientifically relevant questions, such as intra-individual symmetry and the utility of novel endpoints for use in clinical studies. Furthermore, it examines the limitations of past and current studies and develops recommendations for further observational trials.

Schlüsselwörter

Retina - klinische Forschung - natürlicher Verlauf - Choroideremie - Gentherapie

Key words

retina - translational science - natural history - choroideremia - gene therapy

Full Text

References

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