Detection of retinal microvascular changes in von Hippel-Lindau disease using optical coherence tomography angiography

Abstract

Von Hippel-Lindau (VHL) disease is a hereditary disorder that can lead to ophthalmic manifestations, including retinal capillary hemangioma (RCH). The diagnosis of RCH is often guided by wide-field fluorescein angiography. In some cases, optical coherence tomography angiography (OCT-A) serves as a non-invasive alternative to FA. Herein, we used OCT-A to examine the macular microvasculature in patients with VHL disease. Subjects Subjects were selected from patients with a diagnosis of VHL. The control group included eyes without retinal diagnosis from patients with an episode of unilateral retinal detachment or trauma and age � 50 years old. Methods Subjects were scanned on the Optovue RTVue-XR device to acquire 3mm x 3mm OCT-A images of the superficial (SCP) and deep capillary plexus (DCP). SCP and DCP vessel density (VD) were calculated after the images were binarized. Furthermore, for subjects with RCH, each OCT-A image was divided equally into four quadrants. SCP and DCP VD of quadrants with RCH were compared to those without RCH. T-tests were performed for statistical analysis. Results 67 eyes with a history of VHL disease were included as study subjects, while 16 eyes were included as controls. Significant increases in VD were found in patients with VHL disease for both the SCP (p = 0.0441) and DCP (p = 0.0344). When comparing quadrants with associated RCH development to those without, we found no significant difference in SCP VD (p = 0.160) or DCP VD (p = 0.484).

Macular Perfusion Impairment in Von Hippel-Lindau Disease Suggests a Generalized Retinal Vessel Alteration

“…We used OCTA to investigate macular perfusion in a large VHL population, detecting a reduction in macular blood flow. Our findings differ from those recently found, where an increase in macular vessel density in VHL patients was detected in both SCP and DCP [ 24 ]. However, our results cannot be easily compared when different OCTA commercial software is used and the ICP is partially incorporated into the other plexuses.…”

“…Therefore, the presence of tiny clinically undetectable RHs, visible just with fluorescein angiography, cannot be excluded. Another limitation is that genotype-phenotypes correlation was not performed [ 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 ]. Therefore, we cannot exclude that the genotype of VHL germline mutation may differently influence retinal vascular development and perfusion.…”

3-D OCT angiographic evidence of Anti-VEGF therapeutic effects on retinal capillary hemangioma

“… 7 Moreover, a pan-retinal effect has been hypothesized in patients with VHL disease even in the absence of RCH. In a recent study by Lu et al, 20 a significant increase in vessel density was found in the macula of patients with VHL disease for both superficial capillary plexus and deep capillary plexus on OCT-A, consistent with the pathogenesis of tumor development in VHL. Furthermore, peripheral non-perfusion, capillary telangiectasia and capillary leakage have been reported using ultra-wide field FA, indicating stimulation of the vascular bed toward angiogenesis in the presence of hypoxia with consequent VEGF production.…”

Structural and microvascular changes of the peripapillary retinal nerve fiber layer in Von Hippel–Lindau disease: an OCT and OCT angiography study

“…In VHL patients, OCT and OCTA have been mainly used to study posterior pole RH or macular capillary changes related to RH [29][30][31][32] . To the best of our knowledge, this is the first OCT and OCTA study investigating the structural and perfusion characteristics of the peripapillary nerve fiber layer, in which glial cells, neurons and capillaries of the radial peripapillary capillary plexus interact.…”