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| Content Provider | Springer Nature : BioMed Central |
|---|---|
| Author | Matsuo, Toshihiko Nishida, Kenji Tanaka, Takehiro Seno, Takaya Yamada, Kiyoshi Ono, Shigeki |
| Abstract | Backgrounds Iris nodules are frequently noted as clinical manifestations of neurofibromatosis type 1 but the other intraocular manifestations are rare. The purpose of this study is to present a patient with a phthisic eye who underwent enucleation for a cosmetic reason after 15-year follow-up and also to review 14 patients with enucleation described in the literature. Case presentation A 17-year-old man with neurofibromatosis type 1 from infancy underwent the enucleation of phthisic left eye and also had the resection of eyelid subcutaneous mass lesions on the left side for a cosmetic reason. He had undergone four-time preceding surgeries for eyelid and orbital mass reduction on the left side in childhood and had developed total retinal detachment 10 years previously. Pathologically, the enucleated eye showed massive retinal gliosis positive for both S-100 and glial fibrillary acidic protein (GFAP) in the area with involvement of the detached retinal neuronal layer, together with a more fibrotic lesion along the choroid which were, in contrast, negative for both S-100 and GFAP. The choroid, ciliary body, and iris did not show apparent neurofibroma while episcleral neurofibroma was present. Literature review In review of enucleated eyes of 14 patients in the literature, buphthalmic eyes with early-onset glaucoma on the unilateral side was clinically diagnosed in 9 patients who frequently showed varying extent of hemifacial neurofibromatosis which involved the eyelid and orbit on the same side. Pathologically, neurofibromas in varying extent were found in the choroid of 12 patients. One patient showed choroidal malignant melanoma on the left side and fusiform enlargement of the optic nerve on the right side suspected of optic nerve glioma. The phthisic eye in another patient showed massive retinal gliosis similar to the present patient. Conclusions In summary of the 15 patients with neurofibromatosis type 1, including the present patient, buphthalmic or phthisic eyes with no vision were enucleated for cosmetic reasons and showed choroidal neurofibroma in most patients and massive retinal gliosis in two patients including the present patient. |
| Related Links | https://bmcophthalmol.biomedcentral.com/counter/pdf/10.1186/s12886-024-03604-5.pdf |
| Ending Page | 13 |
| Page Count | 13 |
| Starting Page | 1 |
| File Format | HTM / HTML |
| ISSN | 14712415 |
| DOI | 10.1186/s12886-024-03604-5 |
| Journal | BMC Ophthalmology |
| Issue Number | 1 |
| Volume Number | 24 |
| Language | English |
| Publisher | BioMed Central |
| Publisher Date | 2024-08-13 |
| Access Restriction | Open |
| Subject Keyword | Ophthalmology Neurofibromatosis type 1 Enucleation Eye Pathology Massive retinal gliosis Choroidal neurofibroma Phthisis Buphthalmos Malignant melanoma Cosmetic surgery |
| Content Type | Text |
| Resource Type | Case study |
| Subject | Ophthalmology |
| Journal Impact Factor | 1.7/2023 |
| 5-Year Journal Impact Factor | 2/2023 |
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