Department of Ophthalmology, University of Padova, Padova University Hospital ERN-EYE Center, Padova, Italy.
IRCCS, Fondazione G. B. Bietti, Via Livenza 3, 00198, Rome, Italy.
Sci Rep. 2021 Jan 8;11(1):25. doi: 10.1038/s41598-020-79652-w.
Von Hippel-Lindau (VHL) disease is an autosomal dominant genetic disease caused by VHL gene mutation. Retinal hemangioblastomas (RH) are vascularized tumors and represent the main ocular manifestation of the disease. Histopathologically, RH are composed of capillary vessels and stromal cells, the neoplastic population of the lesion. The origin of these stromal cells remains controversial, even if they are hypothesized to be glial cells. The aim of the present study was to investigate neuronal and microvascular changes of the peripapillary retinal nerve fiber layer, in which glial cells, neurons and capillaries (the radial peripapillary capillary plexus) interact. VHL patients with or without peripheral RH were enrolled and compared to healthy controls. Mean peripapillary retinal nerve fiber layer (pRNFL) thickness was measured by means of optical coherence tomography (OCT). The following vascular parameters of the radial peripapillary capillary plexus were quantified using OCT angiography: Vessel Area Density,Vessel Length Fraction, Vessel Diameter Index and Fractal Dimension. One hundred and nine eyes of 61 patients, and 56 eyes of 28 controls were consecutively studied. Mean pRNFL was significantly thinner in VHL eyes without RH versus eyes with RH and controls. Mean pRNFL thickness did not differ between VHL eyes with RH and controls. All OCTA vascular parameters were reduced in VHL eyes with or without RH versus controls, with significative difference for Vessel Diameter Index. The same OCTA parameters did not significantly differ between VHL eyes with or without RH. In VHL eyes without RH, pRNFL thinning may be the consequence of impaired perfusion of the radial peripapillary capillary plexus, while the increase of pRNFL thickness in VHL eyes with RH may depend on possible activation and proliferation of the other RNFL resident cells, the glial cells.
希佩尔-林道（VHL）病是一种常染色体显性遗传疾病，由 VHL 基因突变引起。视网膜血管母细胞瘤（RH）是血管性肿瘤，是该病的主要眼部表现。组织病理学上，RH 由毛细血管和基质细胞组成，即病变的肿瘤细胞。这些基质细胞的起源仍存在争议，尽管它们被假设为神经胶质细胞。本研究旨在探讨神经和微血管变化的视盘周围视网膜神经纤维层，其中神经胶质细胞、神经元和毛细血管（视盘周围毛细血管丛）相互作用。纳入了有或无周边 RH 的 VHL 患者，并与健康对照组进行比较。通过光学相干断层扫描（OCT）测量视盘周围视网膜神经纤维层（pRNFL）的平均厚度。使用 OCT 血管造影术定量测量视盘周围毛细血管丛的以下血管参数：血管面积密度、血管长度分数、血管直径指数和分形维数。连续研究了 61 例患者的 109 只眼和 28 例对照者的 56 只眼。与 RH 眼和对照组相比，无 RH 的 VHL 眼的平均 pRNFL 厚度显著变薄。有 RH 的 VHL 眼与对照组的平均 pRNFL 厚度无差异。与对照组相比，有或无 RH 的 VHL 眼的所有 OCTA 血管参数均降低，血管直径指数差异有统计学意义。有或无 RH 的 VHL 眼之间的相同 OCTA 参数无显著差异。在无 RH 的 VHL 眼中，pRNFL 变薄可能是视盘周围毛细血管丛灌注受损的结果，而有 RH 的 VHL 眼中 pRNFL 厚度的增加可能取决于其他 RNFL 固有细胞（神经胶质细胞）的可能激活和增殖。
