Retinal hemangioblastoma in a patient with Von Hippel-Lindau disease: A case report and literature review

Abstract

BackgroundRetinal hemangioblastoma (RH) is a rare benign tumor and a considerable number of which are caused by Von Hippel-Lindau disease (VHL). Herein, we described a case of VHL-associated RH with retinal detachment who underwent both laser photocoagulation and vitreoretinal surgery and received satisfactory visual recovery. In addition, we reviewed the current diagnosis, genotype-phenotype association, and treatment of VHL-associated RH.Case descriptionA 34-year-old woman presented with vision loss in the right eye at our hospital. Fundus photography and angiography showed retinal detachment and multiple large hemangiomas in the right eye. The visual acuity improved significantly after laser photocoagulation and vitreoretinal surgery. Genetic analyses showed a p.Asn78Ser (c.233A>G) heterozygous missense mutation in the VHL gene.ConclusionWe described a rare case of VHL-associated RH and may provide a new perspective towards diagnosis and treatment of this disease. RH is one of the most common manifestations of VHL and poses a serious threat to vision. Ophthalmic examination methods include fundus examination and fundus photography, etc. The management of the disease emphasizes timely follow-up, early detection of the lesion, and the decision of treatment options according to the size, location and complications of the lesion, including ablation therapy and vitreoretinal surgery. Clinicians should strengthen the understanding of this rare disease for early detection and treatment.

An Unusual Case of Pheochromocytoma Associated with von Hippel-Lindau Disease and Lynch Syndrome During Pregnancy

“…PCCs/PGLs are more common in some subtypes of VHL. Type 1 is associated with missense and truncating mutations that grossly disrupt the folding of the VHL protein, has the lowest risk of less than 5% for PCCs, and is associated with retinal hemangioblastoma, central nervous system hemangioblastoma, renal cell carcinoma, pancreatic cysts, and neuroendocrine tumors such as PGLs ( 2 , 4 , 14 , 25 ). Our patient with a genetic mutation of p.N78S (c.233A>G) is most likely to have VHL type 1.…”

New Prospects on Neuroimaging in Von Hippel Lindau Disease—A Narrative Review

“…All patients affected by VHL, and their at-risk relatives should undergo regular annual eye examinations starting in childhood, including visual acuity testing, fundus examination, fundus photography, and fluorescence angiography. The purpose of this diagnosis is to ensure early diagnosis and the implementation of prompt treatment [8,9]. Magnetic resonance imaging (MRI) is the preferred imaging modality for brain and whole nervous system tumor lesions in VHL syndrome, as it provides better imaging quality compared to computed tomography (CT) and other modalities.…”