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Diagnostik, Klinik und Genetik kongenitaler Hornhauttrübungen

Diagnostics, clinical aspects and genetics of congenital corneal opacities

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Zusammenfassung

Hintergrund

Kongenitale Hornhauttrübungen sind vergleichsweise seltene Erkrankungen mit hohem amblyogenem Potenzial.

Ziel der Arbeit

Die vorliegende Arbeit gibt eine Übersicht der Diagnostik, Klinik und Genetik kongenitaler Hornhauttrübungen.

Methoden

Es erfolgte eine Literaturrecherche zur Erstellung einer Übersichtsarbeit und Illustration mit eigenen Fallbeispielen.

Ergebnis

Eine differenzierte Diagnostik ist von hoher Bedeutung bei der Behandlung von Patienten mit kongenitaler Hornhauttrübung. Dabei ist eine enge Zusammenarbeit zwischen den beteiligten medizinischen Fachbereichen und auch den Eltern unbedingt erforderlich. Die strukturierte Einteilung der kongenitalen Hornhauttrübungen bietet die Grundlage für eine gezielte Therapie.

Diskussion

Die Ursachen und die Klinik der kongenitalen Hornhauttrübungen sind vielfältig. Die korrekte Diagnose sollte frühzeitig und interdisziplinär gestellt werden. Darauf aufbauend können konservative und operative therapeutische Maßnahmen geplant werden, und es kann einer drohenden Amblyopieentwicklung gezielt entgegengewirkt werden.

Abstract

Background

Congenital corneal opacities are comparatively rare diseases with high amblyogenic potential.

Purpose

The present work provides an overview of the diagnostics, clinical aspects and genetics of congenital corneal opacities.

Methods

A literature search was carried out to compile an overview and illustration with own clinical case examples.

Results

Differentiated diagnostics are of high importance in the treatment of patients with congenital corneal opacities. A close cooperation between the medical departments involved and also the parents is absolutely essential. The structured classification of congenital corneal opacities provides the basis for a targeted treatment.

Discussion

The causes and the clinical symptoms of congenital corneal opacities are manifold. The correct diagnosis should be made early and in an interdisciplinary manner. Based on this, conservative and surgical treatment measures can be planned and an impending development of amblyopia can be specifically counteracted.

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Förderung

DFG FOR 2240 (www.for2400.de); EU Cost Aniridia (www.aniridia-net.eu).

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Authors and Affiliations

  1. Zentrum für Augenheilkunde, Medizinische Fakultät und Universitätsklinik Köln, Kerpener Str. 62, 50937, Köln, Deutschland

    M. Matthaei FEBO, S. Zwingelberg, S. Siebelmann, A. Howaldt, M. Mestanoglu, S. L. Schlereth, C. Giezelt, J. Fricke, A. Neugebauer, A. Lappas, T. Dietlein, S. Roters, B. O. Bachmann & C. Cursiefen

  2. Klinik und Poliklinik für Kinder- und Jugendmedizin, Medizinische Fakultät und Universitätsklinik Köln, Köln, Deutschland

    J. Dötsch

  3. Zentrum für seltene Erkrankungen, Medizinische Fakultät und Universitätsklinik Köln, Köln, Deutschland

    J. Dötsch, J. Fricke, A. Neugebauer, A. Lappas, B. O. Bachmann & C. Cursiefen

  4. Zentrum für Molekulare Medizin Köln (ZMMK), Universität zu Köln, Köln, Deutschland

    C. Cursiefen

Authors
  1. M. Matthaei FEBO
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  2. S. Zwingelberg
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  3. S. Siebelmann
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  4. A. Howaldt
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  6. S. L. Schlereth
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  7. C. Giezelt
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  8. J. Dötsch
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  9. J. Fricke
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  10. A. Neugebauer
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  11. A. Lappas
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  12. T. Dietlein
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  13. S. Roters
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  14. B. O. Bachmann
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  15. C. Cursiefen
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Corresponding author

Correspondence to M. Matthaei FEBO.

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Interessenkonflikt

M. Matthaei, S. Zwingelberg, S. Siebelmann, A. Howaldt, M. Mestanoglu, S.L. Schlereth, C. Giezelt, J. Dötsch, J. Fricke, A. Neugebauer, A. Lappas, T. Dietlein, S. Roters, B.O. Bachmann und C. Cursiefen geben an, dass kein Interessenkonflikt besteht.

Für diesen Beitrag wurden von den Autoren keine Studien an Menschen oder Tieren durchgeführt. Für die aufgeführten Studien gelten die jeweils dort angegebenen ethischen Richtlinien. Für Bildmaterial oder anderweitige Angaben innerhalb des Manuskripts, über die Patienten zu identifizieren sind, liegt von ihnen und/oder ihren gesetzlichen Vertretern eine schriftliche Einwilligung vor.

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Die Autoren M. Matthaei und S. Zwingelberg haben zu gleichen Teilen zum Manuskript beigetragen.

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Matthaei, M., Zwingelberg, S., Siebelmann, S. et al. Diagnostik, Klinik und Genetik kongenitaler Hornhauttrübungen. Ophthalmologe 119, 443–452 (2022). https://doi.org/10.1007/s00347-022-01587-6

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