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DOI: 10.1055/s-2005-858714
© Georg Thieme Verlag KG Stuttgart · New York
Genetisch bedingte Erkrankungen des Auges
Genetic Diseases of the EyePublication History
Eingegangen: 20.5.2005
Angenommen: 8.8.2005
Publication Date:
28 December 2005 (online)
Zusammenfassung
Das Auge stellt ein wichtiges diagnostisches Fenster für zahlreiche hereditäre und erworbene systemische Erkrankungen dar. Bei den über 6000 bekannten erblichen Erkrankungen finden sich häufig Auswirkungen auf das visuelle System, die wiederum richtungsweisend für die Diagnose, für die Prognose und für eine mögliche Behandlung sein können. Genetisch bedingte Erkrankungen des Auges können isoliert, assoziiert mit anderen okulären Fehlbildungen oder im Rahmen von systemischen Erkrankungen (Syndromen) auftreten. In den letzten Jahren konnten neue Erkenntnisse zu den erblichen Augenerkrankungen als Hauptursache schwerer angeborener Sehminderungen im Kindes- und Erwachsenenalter gewonnen, für eine Reihe der Erkrankungen ursächliche Gene identifiziert sowie neue diagnostische und therapeutische molekulargenetische Methoden entwickelt werden, die dem Ophthalmologen helfen sollen, diese genetisch bedingten Augenerkrankungen zu erkennen und, falls erforderlich, weitere Maßnahmen einzuleiten. Diese Übersicht fasst den aktuellen Kenntnisstand bezüglich Klinik, Pathophysiologie, Therapieoptionen und Genetik der wichtigsten erblichen Augenerkrankungen zusammen.
Abstract
The eye has always provided a diagnostic window for hereditary and acquired systemic diseases. Of the more than 6,000 known hereditary diseases, many are associated with changes of the visual system. Some are isolated genetic diseases of the eye, others are associated with additional ocular or systemic disorders (syndromes). In recent years, the recognition of genetic diseases as a leading cause of severe visual impairment in adults and in children has led to efforts to determine the underlying defects as well as to develop diagnostic and therapeutic molecular genetic tools. Also, education of ophthalmologists about these diseases will foster the prevention of and therapeutic approaches for genetic blindness. In this article, current knowledge on the clinical manifestations, aetiology and management of genetic diseases of the eye has been summarised.
Schlüsselwörter
Ophthalmogenetik - hereditär - klinische Genetik - molekulare Genetik - Genotyp-Phänotyp-Korrelation
Key words
Ophthalmogenetics - hereditary - clinical genetics - molecular genetics - genotype-phenotype correlation
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Dr. Dorothea Besch
Universitäts-Augenklinik Tübingen
Schleichstraße 12
72076 Tübingen
Email: dorothea.besch@med.uni-tuebingen.de