Abstract
BackgroundVon Hippel-Lindau disease is a rare hereditary syndrome caused by germinal mutations in a von Hippel-Lindau tumor-suppressing gene. Retinal hemangioblastoma is the ocular hallmark lesion of von Hippel-Lindau disease.Case presentationA 20-year-old Caucasian woman presented to our institution with painless visual impairment in the right eye. A fundus ophthalmoscopic evaluation and swept-source optical coherence tomographic examination revealed a retinal hemangioblastoma associated with cystoid macular edema. On the basis of the clinical ocular findings and genetic analysis, von Hippel-Lindau disease was diagnosed. Following an intravitreal injection of ranibizumab, off-label administration of intravitreal dexamethasone was considered to reduce the edema. An almost complete resolution of the edema in the macular area was observed 1 week after the injection. Finally, laser photocoagulation and transconjunctival cryotherapy were performed; the patient developed “ablatio fugax” after cryotherapy.ConclusionsIn our experience, intravitreal dexamethasone administration has proven to be a useful tool for reducing retinal hemangioblastoma-related macular edema in von Hippel-Lindau disease and may be considered a potentially valuable treatment that can be used in combination with other therapies.
Highlights
Von Hippel-Lindau disease is a rare hereditary syndrome caused by germinal mutations in a von Hippel-Lindau tumor-suppressing gene
In our experience, intravitreal dexamethasone administration has proven to be a useful tool for reducing retinal hemangioblastoma-related macular edema in von Hippel-Lindau disease and may be considered a potentially valuable treatment that can be used in combination with other therapies
This report describes the off-label use of intravitreal dexamethasone, which may represent a novelty in the management of macular fluid secondary to retinal hemangioblastoma (RHB) in Von Hippel-Lindau (VHL) disease and may be considered a potentially valuable treatment that can be used in combination with other therapies
Summary
Von Hippel-Lindau disease is a rare hereditary syndrome caused by germinal mutations in a von Hippel-Lindau tumor-suppressing gene. Retinal hemangioblastoma is the ocular hallmark lesion of von HippelLindau disease. Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited multisystem cancer caused by germline variation in the VHL gene on chromosome 3p25p26 [1]. Some patients affected by VHL disease (49–85%) develop retinal hemangioblastoma (RHB) [2, 3], and, despite its benign nature, RHB may cause several sight-threatening complications, such as macular exudation, retinal traction, retinal detachment, retinal and vitreous hemorrhage, and neovascular glaucoma [4]. The patient’s vital signs were within normal limits, and no abnormalities were noticed upon physical and neurological examination. Her best corrected visual acuity (BCVA) was 50 ETDRS (Early Treatment Diabetic Retinopathy Study) letters in the RE and Minnella et al Journal of Medical Case Reports (2018) 12:248
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