Kilgore David A, Sanders Riley, Uwaydat Sami
Jones Eye Institute, Department of Ophthalmology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
Case Rep Ophthalmol. 2020 Nov 9;11(3):588-594. doi: 10.1159/000510013. eCollection 2020 Sep-Dec.
Neurofibromatosis type 1 (NF1) is a phacomatosis known to be associated with several developmental abnormalities in multiple organ systems including the eyes. NF1 can present with varying ophthalmic manifestations, including Lisch nodules, retinal astrocytic hamartomas, capillary hemangiomas, plexiform neurofibromas, and choroidal nodules. We present 2 cases of NF1 with presentations that may represent underreported retinal abnormalities occurring in NF1. Case 1 presents a patient who developed spontaneous peripheral retinal dialysis with subsequent retinal detachment; case 2 discusses a patient with multiple pigmented choroidal lesions bilaterally.
1型神经纤维瘤病（NF1）是一种错构瘤病，已知与包括眼睛在内的多个器官系统的多种发育异常有关。NF1可表现出不同的眼科表现，包括Lisch结节、视网膜星形细胞瘤、毛细血管瘤、丛状神经纤维瘤和脉络膜结节。我们报告2例NF1病例，其表现可能代表NF1中未被充分报道的视网膜异常。病例1介绍了一名患者，该患者发生了自发性周边视网膜脱离，随后出现视网膜脱离；病例2讨论了一名双侧有多个色素性脉络膜病变的患者。
