TY - JOUR
T1 - Effect of intravitreal dexamethasone on macular edema in von Hippel-Lindau disease assessed using swept-source optical coherence tomography
T2 - A case report
AU - Minnella, Angelo Maria
AU - Pagliei, Valeria
AU - Maceroni, Martina
AU - Federici, Matteo
AU - Gambini, Gloria
AU - Caporossi, Aldo
PY - 2018/9/6
Y1 - 2018/9/6
N2 - 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.
AB - 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.
KW - En face OCT
KW - Innovative biotechnology
KW - Macular edema
KW - Retinal hemangioblastoma
KW - Swept-source OCT
KW - Von Hippel-Lindau disease
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U2 - 10.1186/s13256-018-1787-8
DO - 10.1186/s13256-018-1787-8
M3 - Article
AN - SCOPUS:85053113924
VL - 12
JO - Journal of Medical Case Reports
JF - Journal of Medical Case Reports
SN - 1752-1947
IS - 1
M1 - 248
ER -