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ID 67530
フルテキストURL
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著者
Matsuo, Toshihiko Graduate School of Interdisciplinary Science and Engineering in Health Systems, Okayama University ORCID Kaken ID publons researchmap
Nishida, Kenji Department of Pathology, Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama University
Tanaka, Takehiro Department of Pathology, Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama University ORCID Kaken ID publons
Seno, Takaya Department of Plastic and Reconstructive Surgery, Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama University
Yamada, Kiyoshi Department of Plastic and Reconstructive Surgery, Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama University Kaken ID
Ono, Shigeki Department of Neurological Surgery, General Medical Center, Kawasaki Medical School Kaken ID publons researchmap
抄録
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.
キーワード
Neurofibromatosis type 1
Enucleation
Eye
Pathology
Massive retinal gliosis
Choroidal neurofibroma
Phthisis
Buphthalmos
Malignant melanoma
Cosmetic surgery
備考
The version of record of this article, first published in BMC Ophthalmology, is available online at Publisher’s website: http://dx.doi.org/10.1186/s12886-024-03604-5
発行日
2024-08-13
出版物タイトル
BMC Ophthalmology
24巻
1号
出版者
Springer Science and Business Media LLC
開始ページ
341
ISSN
1471-2415
資料タイプ
学術雑誌論文
言語
英語
OAI-PMH Set
岡山大学
著作権者
© The Author(s) 2024.
論文のバージョン
publisher
PubMed ID
DOI
Web of Science KeyUT
関連URL
isVersionOf https://doi.org/10.1186/s12886-024-03604-5
ライセンス
http://creativecommons.org/licenses/by-nc-nd/4.0/
Citation
Matsuo, T., Nishida, K., Tanaka, T. et al. Pathological findings in enucleated eyes of patients with neurofibromatosis type 1: report of a case with 15-year follow-up and review of 14 patients in the literature. BMC Ophthalmol 24, 341 (2024). https://doi.org/10.1186/s12886-024-03604-5