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Hereditäre Netzhaut-Aderhaut-Dystrophien

Teil 2: Differenzialdiagnose

Hereditary retinochoroidal dystrophies

Part 2: differential diagnosis

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Zusammenfassung

Eine einheitliche Nomenklatur für die Vielfalt der hereditären Netzhaut-Aderhaut-Dystrophien existiert nicht. Die Namensgebung erfolgte entweder nach dem ophthalmoskopischen Bild oder aufgrund histologischer, elektrophysiologischer oder genetischer Befunde. Eine exaktere Definition von Krankheitsnamen ist bei zunehmender Kenntnis der molekulargenetischen Hintergründe zu erwarten. Unsere praxisnahe Einteilung fasst Erkrankungen ähnlicher Symptomatik zusammen. So lassen sich generalisierte Dystrophien, welche die gesamte Netzhaut betreffen, von regional begrenzten Dystrophien abgrenzen. Generalisierte Dystrophien können in der Peripherie oder am hinteren Pol beginnen. Regional begrenzte Dystrophien unterteilen sich in eine Vielzahl von Makuladystrophien und die peripher begrenzte dominante Vitreoretinochoroidopathie. Differenzialdiagnostisch wichtig ist die Abgrenzung von zusätzlichen Organerkrankungen im Rahmen von Syndromen, von hereditären stationären Netzhautfunktionsstörungen und anderen hereditären oder erworbenen Netzhauterkrankungen. Die vergleichende Darstellung umfasst Hinweise für häufige differenzialdiagnostische Probleme.

Abstract

A generally accepted classification for inherited retinochoroidal dystrophies does not exist. The names given to certain disorders are either based on ophthalmoscopic findings, or on histologic, electrophysiologic and genetic findings. Future research on the molecular genetic background will result in better definition of clinical entities. The purpose of this project is to outline a practical approach to inherited retinochoroidal dystrophies. For this reason, disorders with similar clinical symptoms are grouped together. Generalized retinochoroidal dystrophies affecting all retinal areas can be distinguished from regional dystrophies. Generalized dystrophies can be subdivided into those with peripheral onset, usually associated with initial rod function loss (night blindness, peripheral field loss: e.g. retinitis pigmentosa, choroideremia) and those with central onset associated with cone function loss (visual acuity loss, central scotoma, color vision deficits: e.g. cone or cone-rod dystrophies). Regionally limited dystrophies include the multitude of macular dystrophies and the autosomal dominant vitreoretinochoroidopathy, which remains limited to the periphery. It is important for a differential diagnosis to exclude involvement of other organ systems in syndromic disorders. Stationary inherited retinal dysfunction (e.g. monochromatism, congenital stationary night blindness) and other inherited or acquired diseases have to be excluded as well. Guidelines for differential diagnosis are presented.

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Danksagungen

Wir danken Frau C. Kneifel, Frau A. Müller und Herrn G. Willerding für das kritische Lesen des Manuskripts und Frau H. Kraus für die technische Unterstützung in der Diagnostik.

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Authors and Affiliations

  1. Augenklinik Charité, Campus Benjamin Franklin, Berlin

    U. Kellner, A. B. Renner & H. Tillack

  2. RetinaScience, Bonn

    U. Kellner

  3. RetinaScience, Postfach 301212, 53192, Bonn

    U. Kellner

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  1. U. Kellner
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  2. A. B. Renner
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  3. H. Tillack
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Correspondence to U. Kellner.

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Kellner, U., Renner, A.B. & Tillack, H. Hereditäre Netzhaut-Aderhaut-Dystrophien. Ophthalmologe 101, 397–414 (2004). https://doi.org/10.1007/s00347-003-0945-5

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  • DOI: https://doi.org/10.1007/s00347-003-0945-5

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