A Case-Oriented Therapeutic Approach Based on Evidence of Retinal Metabolic Demand in Juxtapapillary Capillary Hemangiomas as Part of von Hippel-Lindau Disease

Background

Retinal hemangioblastomas (RHs), also known as retinal capillary hemangioblastomas, are benign highly vascularized, slowly growing, and well-bordered vascular hamartomas. They originate from the endothelial and glial components of the neurosensory retina and the optic nerve head [1]. RHs may occur sporadically as an isolated lesion, but most frequently, as an early manifestation of von Hippel-Lindau disease (VHL) [2]. VHL disease is a multisystem autosomal dominantly inherited neoplastic disorder caused by mutations in the tumor suppressor gene, the VHL gene, on chromosome 3 (3p25 – 26) [3]. Retinal and central nerve system hemangioblastomas are the two main clinical presentations with diagnostic significance in patients with VHL disease. Further manifestations include renal cell carcinoma, pheochromocytoma, epididymal and broad ligament cystadenomas, endolymphatic sac tumor, pancreatic neuroendocrine tumors, and renal and pancreatic cysts [4].

According to its location, retinal hemangioblastomas can be classified into peripheral (RHs) and juxtapapillary hemangioblastomas (JPHs) [5]. The prevalence of VHL gene carriers is reported to range between 30 and 58% among patients with RHs [6] but is less common, between 15 and 23.4% among those with JPHs [7].

The clinical course of JPHs is highly variable and may present with a high fibrovascular growth, subretinal fluid accumulation, macular edema, exudative retinal detachment, and reactive gliosis, as well as with peripheral ischemia, leading to significant ocular complications and visual deterioration.

However, due to the associated systemic life-threatening complications of VHL, timely intervention and proper diagnosis supported by a genetic evaluation are mandatory nowadays.

Here, we present a case of bilateral JPHs that demonstrates the crucial role of ophthalmologists in diagnosing VHL disease.

Publication History

Received: 28 September 2021

Accepted: 06 February 2022

Article published online:
26 April 2022

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