Effect of intravitreal dexamethasone on macular edema in von Hippel-Lindau disease assessed using swept-source optical coherence tomography: a case report

Abstract

Background: 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 Hippel-Lindau disease.

Case presentation: A 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.

Conclusions: 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.

Keywords: En face OCT; Innovative biotechnology; Macular edema; Retinal hemangioblastoma; Swept-source OCT; Von Hippel-Lindau disease.

Fig. 1

Infrared image of the right eye (RE). Retinal hemangioblastoma with prominent feeder vessels in the superior temporal region of the retina in the RE

Fig. 2

Structural optical coherence tomographic en face scan (a) and B-scan (b) of the right eye. The cystoid edema involves the inner and outer nuclear layers of the posterior pole, extending outside the vascular arcades

Fig. 3

a and b Structural optical coherence tomographic (OCT) scan of the right eye 40 days after intravitreal injection of ranibizumab. A reduction in the number and size of the cystic spaces and in the central macular thickness can be observed on the OCT B-scan (b). A decrease in the extension of cystoid edema is observed on the en face scan as well (a)

Fig. 4

a and b Structural optical coherence tomographic (OCT) scans before and 1 week after the injection of slow-release intravitreal dexamethasone implant. Although an initial improvement is observed after the injection of ranibizumab, cystic spaces in both the inner and outer nuclear layers persist (b). Cystoid edema involves the posterior pole entirely, extending outside the vascular arcades (a). Structural OCT B-scan performed 1 week after intravitreal dexamethasone implant administration that shows the absence of cystic spaces, a considerable decrease in central macular thickness, and a restoration of retinal profile and foveal pit (b′). A significant reduction in the extension of the cystoid edema is observed on the en face scan, on which cysts appear to be located in a small area in the upper part of the image above the superior vascular arcade (a′)

Fig. 5

a and b Structural optical coherence tomographic (OCT) scans acquired 20 days after triple freeze-thaw technique transconjunctival cryotherapy. OCT B-scan (b) obtained 20 days after cryotherapy was performed shows a marked serous retinal detachment involving the macular region. A distortion of the posterior pole is observed on the en face scan (a)