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Abstract：
BACKGROUND: 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.
METHODS: 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.
METHODS: 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.
METHODS: 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.
METHODS: 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.
摘要：
背景：虹膜结节通常被认为是1型神经纤维瘤病的临床表现，但其他眼内表现很少见。这项研究的目的是介绍一名患有Phthisic眼的患者，该患者在15年的随访后因美容原因进行了摘除，并回顾了文献中描述的14例摘除患者。
方法：一名17岁的1型神经纤维瘤病患者因美容原因，接受了Phthisic左眼摘除术，并切除了左侧眼睑皮下肿块病变。他在童年时曾进行过四次手术以减少左侧的眼睑和眼眶质量，并且在10年前发生了视网膜完全脱离。病理上,摘除的眼睛在涉及视网膜神经元层的区域显示出大量的视网膜胶质细胞增生，S-100和胶质纤维酸性蛋白（GFAP）阳性，以及沿脉络膜的纤维化病变，相比之下,S-100和GFAP均为阴性。脉络膜,睫状体,虹膜未显示明显的神经纤维瘤，而巩膜神经纤维瘤存在。
方法：在文献中回顾了14例患者的眼球摘除，在9例患者中，临床诊断为单侧早发性青光眼的眼病，这些患者经常表现出不同程度的面神经神经纤维瘤病，累及同侧的眼睑和眼眶。病理上,在12例患者的脉络膜中发现了不同程度的神经纤维瘤。一名患者左侧显示脉络膜恶性黑色素瘤，右侧视神经梭形扩大，怀疑视神经胶质瘤。另一名患者的phthisic眼显示出与本患者相似的大量视网膜神经胶质增生。
结论：总结15例1型神经纤维瘤病患者，包括本患者，由于美容原因，没有视力的白眼或phithisic眼被摘除，大多数患者显示脉络膜神经纤维瘤，包括本患者在内的两名患者显示大量视网膜胶质增生。
方法：一名17岁的1型神经纤维瘤病患者因美容原因，接受了Phthisic左眼摘除术，并切除了左侧眼睑皮下肿块病变。他在童年时曾进行过四次手术以减少左侧的眼睑和眼眶质量，并且在10年前发生了视网膜完全脱离。病理上,摘除的眼睛在涉及视网膜神经元层的区域显示出大量的视网膜胶质细胞增生，S-100和胶质纤维酸性蛋白（GFAP）阳性，以及沿脉络膜的纤维化病变，相比之下,S-100和GFAP均为阴性。脉络膜,睫状体,虹膜未显示明显的神经纤维瘤，而巩膜神经纤维瘤存在。
方法：在文献中回顾了14例患者的眼球摘除，在9例患者中，临床诊断为单侧早发性青光眼的眼病，这些患者经常表现出不同程度的面神经神经纤维瘤病，累及同侧的眼睑和眼眶。病理上,在12例患者的脉络膜中发现了不同程度的神经纤维瘤。一名患者左侧显示脉络膜恶性黑色素瘤，右侧视神经梭形扩大，怀疑视神经胶质瘤。另一名患者的phthisic眼显示出与本患者相似的大量视网膜神经胶质增生。
结论：总结15例1型神经纤维瘤病患者，包括本患者，由于美容原因，没有视力的白眼或phithisic眼被摘除，大多数患者显示脉络膜神经纤维瘤，包括本患者在内的两名患者显示大量视网膜胶质增生。
