Retinal Ischemia as a Presenting Ocular Sign of Neurofibromatosis Type 2
Purpose. Specific retinal abnormalities of neurofibromatosis type 2 (NF2) commonly include retinal astrocytoma and combined hamartoma of the retina and retinal pigment epithelium. Vasculopathy is an uncommon manifestation of NF2. We reported an NF2 patient presenting with retinal ischemia. Observati...
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| Format: | Article |
| Language: | English |
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Wiley
2024-01-01
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| Series: | Case Reports in Ophthalmological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2024/9133929 |
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| author | Binbin Zhao Yan Yan |
| author_facet | Binbin Zhao Yan Yan |
| author_sort | Binbin Zhao |
| collection | DOAJ |
| description | Purpose. Specific retinal abnormalities of neurofibromatosis type 2 (NF2) commonly include retinal astrocytoma and combined hamartoma of the retina and retinal pigment epithelium. Vasculopathy is an uncommon manifestation of NF2. We reported an NF2 patient presenting with retinal ischemia. Observations. An 18-year-old healthy Chinese female with acute decreased vision. The fundus examination and optical coherence tomography revealed optic disc hamartoma in the right eye and paracentral acute middle maculopathy (PAMM) and cotton wool spot indicating retinal ischemia in the left eye. Brain MRI showed bilateral acoustic neuroma, parasellar meningioma, and cervical extramedullary tumor. The genetic test confirmed the diagnosis of NF2. Conclusions and Importance. Our case suggests that retinal ischemia could be the presenting sign of NF2. NF2 could be associated with retinal vasculopathy in addition to retina tumors. |
| format | Article |
| id | doaj-art-c6ec18b8e51643688dc86638660881e3 |
| institution | Kabale University |
| issn | 2090-6730 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Ophthalmological Medicine |
| spelling | doaj-art-c6ec18b8e51643688dc86638660881e32025-02-03T06:14:52ZengWileyCase Reports in Ophthalmological Medicine2090-67302024-01-01202410.1155/2024/9133929Retinal Ischemia as a Presenting Ocular Sign of Neurofibromatosis Type 2Binbin Zhao0Yan Yan1Department of OphthalmologyDepartment of OphthalmologyPurpose. Specific retinal abnormalities of neurofibromatosis type 2 (NF2) commonly include retinal astrocytoma and combined hamartoma of the retina and retinal pigment epithelium. Vasculopathy is an uncommon manifestation of NF2. We reported an NF2 patient presenting with retinal ischemia. Observations. An 18-year-old healthy Chinese female with acute decreased vision. The fundus examination and optical coherence tomography revealed optic disc hamartoma in the right eye and paracentral acute middle maculopathy (PAMM) and cotton wool spot indicating retinal ischemia in the left eye. Brain MRI showed bilateral acoustic neuroma, parasellar meningioma, and cervical extramedullary tumor. The genetic test confirmed the diagnosis of NF2. Conclusions and Importance. Our case suggests that retinal ischemia could be the presenting sign of NF2. NF2 could be associated with retinal vasculopathy in addition to retina tumors.http://dx.doi.org/10.1155/2024/9133929 |
| spellingShingle | Binbin Zhao Yan Yan Retinal Ischemia as a Presenting Ocular Sign of Neurofibromatosis Type 2 Case Reports in Ophthalmological Medicine |
| title | Retinal Ischemia as a Presenting Ocular Sign of Neurofibromatosis Type 2 |
| title_full | Retinal Ischemia as a Presenting Ocular Sign of Neurofibromatosis Type 2 |
| title_fullStr | Retinal Ischemia as a Presenting Ocular Sign of Neurofibromatosis Type 2 |
| title_full_unstemmed | Retinal Ischemia as a Presenting Ocular Sign of Neurofibromatosis Type 2 |
| title_short | Retinal Ischemia as a Presenting Ocular Sign of Neurofibromatosis Type 2 |
| title_sort | retinal ischemia as a presenting ocular sign of neurofibromatosis type 2 |
| url | http://dx.doi.org/10.1155/2024/9133929 |
| work_keys_str_mv | AT binbinzhao retinalischemiaasapresentingocularsignofneurofibromatosistype2 AT yanyan retinalischemiaasapresentingocularsignofneurofibromatosistype2 |