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

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.