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 ou...
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| Format: | Article |
| Language: | English |
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BMC
2018-09-01
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| Series: | Journal of Medical Case Reports |
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| Online Access: | http://link.springer.com/article/10.1186/s13256-018-1787-8 |
| _version_ | 1819070870097756160 |
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| author | Angelo Maria Minnella Valeria Pagliei Martina Maceroni Matteo Federici Gloria Gambini Aldo Caporossi |
| author_facet | Angelo Maria Minnella Valeria Pagliei Martina Maceroni Matteo Federici Gloria Gambini Aldo Caporossi |
| author_sort | Angelo Maria Minnella |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-21T17:12:48Z |
| format | Article |
| id | doaj.art-edfdf9d0050d4f4089932520408bf5c6 |
| institution | Directory Open Access Journal |
| issn | 1752-1947 |
| language | English |
| last_indexed | 2024-12-21T17:12:48Z |
| publishDate | 2018-09-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj.art-edfdf9d0050d4f4089932520408bf5c62022-12-21T18:56:22ZengBMCJournal of Medical Case Reports1752-19472018-09-011211510.1186/s13256-018-1787-8Effect of intravitreal dexamethasone on macular edema in von Hippel-Lindau disease assessed using swept-source optical coherence tomography: a case reportAngelo Maria Minnella0Valeria Pagliei1Martina Maceroni2Matteo Federici3Gloria Gambini4Aldo Caporossi5Institute of Ophthalmology, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli - IRCCSInstitute of Ophthalmology, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli - IRCCSInstitute of Ophthalmology, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli - IRCCSInstitute of Ophthalmology, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli - IRCCSInstitute of Ophthalmology, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli - IRCCSInstitute of Ophthalmology, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli - IRCCSAbstract 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.http://link.springer.com/article/10.1186/s13256-018-1787-8Retinal hemangioblastomaVon Hippel-Lindau diseaseSwept-source OCTEn face OCTMacular edemaInnovative biotechnology |
| spellingShingle | Angelo Maria Minnella Valeria Pagliei Martina Maceroni Matteo Federici Gloria Gambini Aldo Caporossi Effect of intravitreal dexamethasone on macular edema in von Hippel-Lindau disease assessed using swept-source optical coherence tomography: a case report Journal of Medical Case Reports Retinal hemangioblastoma Von Hippel-Lindau disease Swept-source OCT En face OCT Macular edema Innovative biotechnology |
| title | Effect of intravitreal dexamethasone on macular edema in von Hippel-Lindau disease assessed using swept-source optical coherence tomography: a case report |
| title_full | Effect of intravitreal dexamethasone on macular edema in von Hippel-Lindau disease assessed using swept-source optical coherence tomography: a case report |
| title_fullStr | Effect of intravitreal dexamethasone on macular edema in von Hippel-Lindau disease assessed using swept-source optical coherence tomography: a case report |
| title_full_unstemmed | Effect of intravitreal dexamethasone on macular edema in von Hippel-Lindau disease assessed using swept-source optical coherence tomography: a case report |
| title_short | Effect of intravitreal dexamethasone on macular edema in von Hippel-Lindau disease assessed using swept-source optical coherence tomography: a case report |
| title_sort | effect of intravitreal dexamethasone on macular edema in von hippel lindau disease assessed using swept source optical coherence tomography a case report |
| topic | Retinal hemangioblastoma Von Hippel-Lindau disease Swept-source OCT En face OCT Macular edema Innovative biotechnology |
| url | http://link.springer.com/article/10.1186/s13256-018-1787-8 |
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