Stellenwert ophthalmologischer Bildgebung bei häufigen hereditären Netzhauterkrankungen

Zusammenfassung

Hintergrund: In den letzten Jahren kam es in der genetischen, funktionellen sowie in der bildgebenden Diagnostik hereditärer Netzhauterkrankungen zu entscheidenden Verbesserungen. Die optische Kohärenztomografie (OCT) sowie die Fundusautofluoreszenz (FAF) erlauben aus unterschiedlichen Blickpunkten heraus eine hochauflösende, nicht invasive Darstellung der retinalen und choroidalen Schichten des hinteren Augenfundus. Beide Verfahren nehmen einen zunehmend größeren Stellenwert in der Diagnostik hereditärer Netzhauterkrankungen ein.

Patienten/Methoden: Die in der Übersichtsarbeit vorgestellten Patienten wurden nach ausführlicher Familienanamnese klinisch ophthalmologisch untersucht. Bei allen Patienten wurden Spectral-Domain-OCT- sowie Fundusautofluoreszenzuntersuchungen durchgeführt und diese dann mit Ergebnissen anderer funktioneller oder molekulargenetischer Untersuchungsverfahren in den Kontext der jeweiligen Erkrankung gesetzt.

Ergebnisse: Anhand ausgewählter Fallbeispiele erblich bedingter Netzhauterkrankungen (Morbus Best, Morbus Stargardt, Zapfen-Stäbchen-Dystrophie, Retinitis pigmentosa, Achromatopsie und X-Chromosom-verknüpfte Retinoschisis) wird in dieser Übersichtsarbeit auf den Stellenwert der ophthalmologischen Bildgebung (OCT + FAF) bei der zielführenden Diagnostik erblich bedingter Netzhauterkrankungen eingegangen.

Schlussfolgerung: Die beschriebenen bildgebenden Verfahren (OCT + FAF) nehmen einen zunehmend größer werdenden Stellenwert in der Diagnostik und Differenzialdiagnose vererbbarer Netzhauterkrankungen ein. Durch die steigende Verfügbarkeit der Geräte ist eine frühzeitigere Erkennung morphologischer Veränderungen, die in der klinischen Funduskopie nicht sichtbar sind, möglich.

Abstract

Background: Over the past years, a significant progress in genetic, functional and imaging diagnostics in hereditary retinal diseases has been made. Optical coherence tomography (OCT) as well as fundus autofluorescence (FAF) allow for high-resolution, non-invasive imaging – from various perspectives – of retinal and choroidal layers of the posterior fundus. Both techniques have gained more and more significance in the diagnosis of hereditary retinal diseases.

Patients/Methods: Of all patients presented in this review, extensive family history was taken and a clinical ophthalmological examination performed. OCT scans as well as FAF images were acquired and compared to results of other functional and molecular genetic tests in the context of each disease.

Results: The presented cases in this review addressing hereditary retinal diseases (Bestʼs disease, Stargardtʼs disease, cone-rod dystrophy, retinitis pigmentosa, achromatopsia, and X-linked retinoschisis) show the significance of ophthalmic imaging (OCT + FAF) for a targeted diagnosis of hereditary retinal diseases.

Conclusion: The described imaging techniques (OCT + FAF) are becoming more and more important in the diagnosis of hereditary retinal diseases. Due to increasing availability of the devices, earlier detection of typical morphological changes not seen in clinical fundoscopy is feasible.

Schlüsselwörter

Genetik - OCT - Autofluoreszenz - Retina - Bildgebung

Key words

genetics - OCT - autofluorescence - retina - imaging

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