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Minoranomalien der Hornhaut bei der murinen Trisomie 16

Corneal anomalies in murine trisomy 16

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Zusammenfassung

Hintergrund

Das Down-Syndrom ist die häufigste beim Menschen bekannte Trisomie (1:700). Deshalb sind Untersuchungen an Tiermodellen zur Klärung der Ätiopathogenese von klinischer Relevanz. Allerdings wurden bislang keine Hornhautveränderungen bei der murinen Trisomie 16 beschrieben.

Methode

20 Mäusefeten (n=40 Augen) mit einer induzierten Trisomie 16 wurden am 18. Tag post conceptionem lichtmikroskopisch untersucht. Es erfolgte eine standardisierte histopathologische Aufbereitung des Sehorgans.

Ergebnisse

Die Trisomie-16-Mäusefeten wiesen neben systemischen Entwicklungsstörungen Fehlbildungen des Sehorgans (fehlender transitorischer Lidschluss, Katarakt) mit einer hohen Expressivität auf. Es konnten Entwicklungs- und Differenzierungsstörungen der kornealen Epithelzelllagen sowie Gefügestörungen des Stroma corneae als Belege für Minoranomalien der Hornhaut beobachtet werden. Unsere Befunde belegen erstmalig Entwicklungsstörungen der Hornhaut bei Feten mit einer murinen Trisomie 16. Diese könnten bei einem späteren Überleben der Tiere durchaus zu einer Wölbungsanomalie (Keratokonus) geführt haben.

Schlussfolgerung

Mäusefeten mit einer Trisomie 16 entsprechen in wichtigen Befunden dem klinischen Bild des vom Menschen bekannten Down-Syndroms. Entwicklungsstörungen der Lider und der Linse sind Merkmale von hoher, die Hornhauthypoplasie dagegen von geringerer Expressivität.

Abstract

Background

The prevalence of human Down’s syndrome is about 1:700. Investigations using animal models are therefore of clinical relevance for understanding its etiopathogenesis. No corneal changes have been reported with transgenic murine trisomy 16.

Methods

A total of 20 fetal mice (n=40 eyes) with experimentally induced trisomy 16 were investigated from day 18 of pregnancy in order to determine whether visible developmental disorders of the cornea occur. All specimen were investigated microscopically in serial sections.

Results

In addition to disturbances in systemic development, the transgenic mouse fetuses showed high rates of malformation of the eyes. Developmental and differentiation disorders of the corneal epithelial cell layers and structural disturbances of the corneal parenchyma were found. Our findings are the first demonstration of developmental disorders of the cornea in mouse fetuses with trisomy 16. These minor anomalies of the cornea could well have resulted in keratoconus if the animals had survived.

Conclusions

Our findings in transgenic mouse fetuses with trisomy 16 correspond to the clinical pattern of Down’s syndrome in humans. Disturbed development of lids and lenses have a high prevalence, whereas corneal hypoplasia is found less often.

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Authors and Affiliations

  1. Klinik und Poliklinik für Augenheilkunde, Ernst-Moritz-Arndt-Universität, Greifswald

    F. Tost & J. Wolfinger

  2. Institut für Anatomie, Ernst-Moritz-Arndt-Universität, Greifswald

    J. Giebel

  3. Institut für Humangenetik, Universität, Heidelberg

    W. Buselmaier

  4. Klinik und Poliklinik für Augenheilkunde, Ernst-Moritz-Arndt-Universität, Sauerbruch-Straße, 17487 , Greifswald

    F. Tost

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  1. F. Tost
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  2. J. Wolfinger
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  3. J. Giebel
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  4. W. Buselmaier
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Correspondence to F. Tost.

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Tost, F., Wolfinger, J., Giebel, J. et al. Minoranomalien der Hornhaut bei der murinen Trisomie 16. Ophthalmologe 102, 64–69 (2005). https://doi.org/10.1007/s00347-004-1062-9

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  • DOI: https://doi.org/10.1007/s00347-004-1062-9

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