Routineuntersuchung fetaler Augen – wie und warum?

Zusammenfassung

Die Untersuchung fetaler Augen gibt zum einen Aufschluss über die Entwicklung des Auges, zum anderen trägt eine ophthalmopathologische Untersuchung zur Diagnostik systemischer und okulärer Syndrome bei. Der folgende Übersichtsartikel behandelt die Untersuchung fetaler Augen, die Zuordnung der Augen zu verschiedenen Entwicklungsstadien, Herausforderungen bei der Beurteilung fetaler Augen, die klinische Relevanz anhand von Fallbeispielen sowie akademische Fragestellungen. Die morphologische Entwicklung des Auges wurde bereits seit dem 19. Jahrhundert untersucht und ist nicht Gegenstand dieser Arbeit. Bei der Untersuchung fetaler Augen, die im Rahmen einer kinderpathologischen Obduktion entnommen werden, stehen der Diagnostik oft Artefakte im Wege, die durch Autolyse, Fixation oder mechanische Manipulation entstanden sind. Diese gilt es, von Krankheitsbildern zu unterscheiden. Neben der Untersuchung auf z. B. Kolobome und Katarakte ist auch die morphologische Einordnung des Auges zu einem Entwicklungsstadium wichtig. Anhand des anterior–posterioren Durchmessers des Auges kann z. B. ein Mikrophthalmus diagnostiziert werden. Die Fallbeispiele umfassen u. a. das Goldenhar-Syndrom, das MIDAS-Syndrom und Kolobome. Zusammenfassend ist die Beurteilung fetaler Augen eine verantwortungsvolle Aufgabe, da die okulären Befunde in die kinderpathologische Diagnose mit einfließen, auf die sich die Beratung der Eltern stützt.

Abstract

The investigation of foetal eyes not only allows for the observation of ocular development. It is supportive and sometimes even mandatory for the diagnosis of systemic and ocular syndromes. This review gives an overview about the investigation of foetal eyes, their assignment to developmental stages, challenges related to the investigation of foetal eyes, clinically relevant syndromes, and academic questions. The morphological development of the eye has been investigated since the 19th century and will not be covered in this article. The investigation of foetal eyes that have been collected during the routine paediatric autopsy, is complicated by artifacts. Artifacts are the result of autolysis, fixation, and mechanical manipulation. They have to be distinguished from genuine findings. Besides the search for findings such as coloboma or cataract, the morphological classification of the foetal eye is of importance. The anterior-posterior diameter allows for the diagnosis of microphthalmia. The case reports comprise Goldenharʼs syndrome, MIDAS syndrome and others. In conclusion, the investigation of foetal eyes is often helpful and critical for paediatric diagnostics and should be performed with great care.

Schlüsselwörter

fetale Augen - Entwicklung des Auges - Syndrome - Artefakte - Ophthalmopathologie

Key words

foetal eyes - development of the eye - syndromes - artifacts - ophthalmic pathology

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