Von Hippel-Lindau Disease: The Importance of Retinal Hemangioblastomas in Diagnosis

Abstract

Von Hippel-Lindau (VHL) disease is a familial cancer syndrome characterized by benign or malignant tumors which may involve more than one system. Retinal hemangioblastomas are usually the initial manifestation of VHL disease and can cause vision loss. A 32-year-old man presented to our clinic with vision loss in the left eye for 2 months. He had a history of cerebral hemangioblastoma operation. Family history showed that his mother had unilateral vision loss and died because of renal cell carcinoma. Ophthalmologic examination revealed multiple retinal hemangioblastomas in both eyes. VHL gene sequencing was performed and heterozygous p.R161X mutation was detected. His sister and daughter were also found to have the same variant. A treatment and follow-up plan was initiated for the patient and affected family members. Considering VHL disease in the differential diagnosis of retinal hemangioblastomas has a very important role in the early detection of life-threatening tumors in these patients.

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

“…Under the ophthalmoscope, RH usually presents as pink or orange nearly round lesions with obvious dilated and tortuous feeding and draining blood vessels around the tumor in most cases. Secondary exudation, proliferation, hemorrhage, and even exudative or tractive retinal detachment may occur resulting in visual impairment in some cases ( 2 – 6 , 9 , 10 , 17 ). According to the distribution of the lesions in the retina, RH can be divided into peripheral RH and juxtapapillary RH.…”

“…Retinal hemangioblastoma (RH, also appearing in the literature as retinal capillary hemangioma, retinal capillary hemangioblastoma, or retinal angioma) is a rare benign tumor typically manifested by retinal vascular neoplasms with pink or orange color, nodular appearance, dilated and tortuous feeding and draining blood vessels, as well as exudation involving both perilesional retina and the macula (1)(2)(3)(4). It has been reported that a considerable number of RH cases were caused by von Hippel-Lindau disease (VHL), while the rest seemed to be sporadic (1).…”

Ocular Manifestations of von Hippel-Lindau Disease

“…Retinal capillary hemangioblastomas are well-recognized as the most commonly observed tumors in VHL and are commonly the initial manifestation of the disease [18,19]. The likelihood of retinal angioma development increases with age, reaching a probability of 80% in VHL patients over 80 years [5].…”

“…Multiple laser photocoagulation sessions and, occasionally, additional cryotherapy after laser photocoagulation may be necessary to achieve RCH inactivation [32]. Other ablative therapies have included photodynamic therapy, transpupillary thermotherapy, plaque radiotherapy, external beam radiotherapy, and vitreoretinal surgical ablation [19]. As RCHs enlarge, it becomes increasingly difficult to destroy these lesions with photocoagulation or cryotherapy, and these treatments carry increased risks.…”