Morphology of Retinal Hemangioblastoma in von Hippel-Lindau Disease Revealed by Optical Coherence Tomography Angiography

Abstract

Background To characterize different growth patterns of retinal hemangioblastomas (RHs) in patients with von Hippel-Lindau disease (VHLD) using swept-source optical coherence tomography angiography (SS-OCTA).

Methods Single-center observational cross-sectional study. SS-OCTA B-scans were centered over primary treatment-naïve RHs to display the perfusion in the inner, middle, and outer areas (IA, MA, OA). Distinctive growth patterns were characterized using K-means cluster analysis of the flow signal.

Results Annual screening of 201 patients with VHLD revealed 49 patients with 85 RHs (41 recurrent, 44 primary treatment-naïve RHs). High-quality SS-OCTA images were available for 24 primary RHs and were pooled with scans of the treatment-naïve form of 6 recurrent RHs, which were taken at a prior visit, for further analysis. Out of 30 primary RHs, 18 were located juxtapapillary (jRH) and 12 peripherally (pRH). K-means cluster analysis distinguished seven exophytic (23.3%, 2 jRH, 5 pRH), nine endophytic (30%, 6 jRH, 3 pRH), and fourteen sessile (46.7%, 10 jRH, 4 pRH) growth patterns. Fractions of the flow signal in the IA, MA, and OA were 7.3 ± 3.3%, 89.3 ± 5.0%, and 3.4 ± 3.5% for exophytic RHs, 22.2 ± 7.4%, 65.6 ± 7.3%, and 12.1 ± 8.2% for sessile RHs, and 65.4 ± 5.7%, 26.6 ± 4.9%, and 8.0 ± 6.1% for endophytic RH.

Conclusion OCTA contributes to further elucidating the morphology of RHs as a useful complementary diagnostic tool that can help to provide customized therapeutic approaches in the future and thus improve the effectiveness of RH treatment.

Zusammenfassung

Hintergrund Ziel der Studie ist die Charakterisierung unterschiedlicher Wachstumsmuster von retinalen Hämangioblastomen (RHs) bei Patienten mit Von-Hippel-Lindau-Krankheit (VHLD) mittels Swept-Source optischer Kohärenztomografie-Angiografie (SS-OCTA).

Methoden Monozentrische Querschnittsstudie. SS-OCTA-B-Scans von primären, unbehandelten RHs wurden erstellt, um die Perfusion in den inneren, mittleren und äußeren Bereichen (IA, MA, OA) der RH darzustellen. Charakteristische Wachstumsmuster wurden mithilfe einer K-Means-Cluster-Analyse des Flusssignals ermittelt.

Ergebnisse Bei jährlichen Screenings von 201 Patienten mit VHLD wurden bei 49 Patienten 85 RHs (41 rezidivierende, 44 primäre, unbehandelte RHs) detektiert. SS-OCTA-Scans von 24 primären RHs wurden zusammen mit Aufnahmen der unbehandelten Form von 6 rezidivierenden RHs, die bei einem früheren Besuch erhoben wurden, zur weiteren Analyse zusammengeführt. Von den 30 primären RHs waren 18 juxtapapillär (jRH) und 12 peripher (pRH) gelegen. Mittels K-Mittel-Cluster-Analyse wurden sieben exophytische (23,3%, 2 jRH, 5 pRH), 9 endophytische (30%, 6 jRH, 3 pRH) und 14 sessile (46,7%, 10 jRH, 4 pRH) Wachstumsmuster unterschieden. Die jeweiligen Anteile des Flusssignals in der IA, MA und OA betrugen 7,3 ± 3,3%, 89,3 ± 5,0%, 3,4 ± 3,5% für exophytische RHs, 22,2 ± 7,4%, 65,6 ± 7,3%, 12,1 ± 8,2% für sessile RHs und 65,4 ± 5,7%, 26,6 ± 4,9%, 8,0 ± 6,1% für endophytische RHs.

Schlussfolgerung Die OCTA bietet als ergänzendes diagnostisches Verfahren einen wertvollen Beitrag zur weiteren Aufklärung der Morphologie von RHs. Sie kann zukünftig zur Entwicklung individuellerer therapeutischer Ansätze beitragen und dadurch die Effektivität der Behandlung von RH bei VHLD verbessern.

Conclusion

Already known:

OCTA has been described as a useful tool for early RH detection, classification of single lesions, and post-treatment monitoring; however, its use in systematically classifying RH flow patterns across a broad patient sample remains unexplored. This study examines whether RH growth patterns correlate with flow patterns in OCTA.

Newly described:

There is a correlation between the flow patterns measured by OCTA and the three distinct RH morphologies–endophytic, sessile, and exophytic–in both juxtapapillary RHs and peripheral RHs. Given the critical role of tumor morphology in determining treatment approaches, OCTA scan data could support more tailored therapeutic strategies for RHs, potentially enhancing the visual prognosis for patients with VHLD in the future.

Keywords

retinal hemangioblastoma - morphology - von Hippel-Lindau disease - optical coherence tomography angiography - OCTA

Schlüsselwörter

retinale Hämangioblastome - Morphologie - Von-Hippel-Lindau Erkrankung - optische Kohärenztomografie-Angiografie - OCTA

Publication History

Received: 03 November 2024

Accepted: 25 November 2024

Article published online:
10 February 2025

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