Diagnose erblicher Netzhauterkrankungen

Zusammenfassung

Erbliche Netzhauterkrankungen sind eine häufige Ursache für eine schwere Sehbehinderung oder Erblindung bei Kindern und Erwachsenen im erwerbsfähigen Alter. Aufgrund einer großen Heterogenität besteht eine hohe Variabilität hinsichtlich Einschränkungen der Sehfunktion, Auswirkungen auf das alltägliche Leben, auf die Lebensplanung sowie hinsichtlich neuer Therapieverfahren. Insofern ist eine frühzeitige und präzise Diagnose für Patienten und ihre Familien von Bedeutung. Die Charakterisierung einer erblichen Netzhauterkrankung umfasst eine detaillierte Anamnese, eine umfassende klinische Untersuchung mit Testung der Sehfunktion, eine multimodale retinale Bildgebung als auch eine molekulargenetische Diagnostik. Neben der Unterscheidung verschiedener erblicher Netzhauterkrankungen ist eine Abgrenzung zu monogenen Systemerkrankungen mit einer Netzhautbeteiligung, sowie eine Abgrenzung zu Erkrankungen, die eine Netzhautdystrophie imitieren, wichtig.

Schlüsselwörter

Netzhautdystrophie - Retinitis pigmentosa - Zapfen-Stäbchen-Dystrophie - Diagnose - Bildgebung - genetische Testung

Publication History

Received: 13 October 2020

Accepted: 09 February 2021

Article published online:
30 March 2021

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