Hereditäre Makuladystrophien in der Differenzialdiagnose der AMD

Zusammenfassung

Hereditäre Makuladystrophien können sich in jedem Lebensalter manifestieren und auch nach dem 50. Lebensjahr Ursache von Sehstörungen sein. Viele Makuladystrophien verändern im Krankheitsverlauf ihr Erscheinungsbild am Fundus und präsentieren sich im Spätstadium nicht selten als zentrale chorioretinale Atrophie. Eine Abgrenzung zur trockenen AMD kann dann mittels alleiniger Funduskopie äußerst schwierig oder nicht mehr möglich sein. Eine CNV kann durchaus auch bei Makuladystrophien auftreten und verleitet schnell zur Annahme einer feuchten AMD. Weitere, sehr hilfreiche diagnostische Maßnahmen zur Vermeidung einer Fehldiagnose sind vor allem die bildgebenden Verfahren Fundusautofluoreszenz und optische Kohärenztomografie, die für die Makuladystrophien oft typische Befunde liefern und somit eine Abgrenzung zur AMD erleichtern. Dieser Artikel gibt eine Übersicht über speziell die differenzialdiagnostisch zur AMD wichtigen Makuladystrophien.

Abstract

The onset of hereditary macular dystrophies may occur at all ages and may be the origin of visual disturbances even after the age of 50 years. During the disease course, many macular dystrophies change their fundus appearance, finally leading to a geographic chorioretinal atrophy making it difficult to distinguish the disease form dry AMD. Furthermore, a macular dystrophy associated CNV may be misleading to the diagnosis of wet AMD. Additional fundus autofluorescence and optical coherence tomography imaging are very valuable for delineating macular dystrophies from AMD. In this paper we provide an overview of the important hereditary macular dystrophies which should be considered as differential diagnoses for AMD.

Schlüsselwörter

Retina - Genetik - Elektrophysiologie

Key words

retina - genetics - electrophysiology

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