title: Anophthalmia:  an uncommon manifestation of neurofibromatosis type 1.
abstract: Neurofibromatosis type 1 (NF-1) is an autosomal dominant, multisystem disorder, affecting approximately 1 of 3500 people. Ocular disorders, such as Lisch nodules, optic gliomas, and anterior segment defects, are typical with clinical presentation. Anophthalmia, as a rare eye malformation, has never been reported in patients with NF-1. We report a 27-year-old patient in whom clinical manifestations of café au lait spots, neurofibromas, osseous orbital dysplasia, and anophthalmia were observed. The diagnosis of NF-1 was made, according to clinical course and brain computed tomography and magnetic resonance imaging. Because the patient refused aggressive management approaches, she was managed conservatively and is well on follow-up. We suggest that patients presenting with anophthalmia need serious evaluation and that NF-1 needs to be considered in the differential diagnosis.
authors: Department of Neurosurgery, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang Province, China.
authors: Sheng
authors: S
authors: Chen
authors: Jia-Li
authors: JL
authors: Pu
authors: Jian-Min
authors: JM
authors: Zhang
authors: Yuan
authors: Y
authors: Hong
mesh_terms: D000328:Adult; D000853:Anophthalmos / Q000175:diagnosis* / Q000628:therapy; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009456:Neurofibromatosis 1 / Q000175:diagnosis* / Q000628:therapy; D014057:Tomography, X-Ray Computed