Jornal de Oftalmologia Clínica e Experimental
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Ocular Findings of Neurofibromatosis 2: A Case Study

Lei Jingyu and Yao Ke

We report a case, from China, of neurofibromatosis 2 with notable ocular lesions, a unilateral cataract, and optic nerve meningiomas. The 24-year-old patient was diagnosed as neurofibromatosis type 2 based on his bilateral vestibular schwannoma and intraspinal tumors, but he also had some important clinical features of neurofibromatosis type 1, such as skin tumors and “cafe-au-lait” macules. He noticed that his left lens had become gradually more opaque over the past two years, and could only perceive light at the time of the study. Phacoemulsification, intraocular lens implantation, posterior capsulotomy and anterior vitrectomy were performed on this patient to manage the cataract and ruptured posterior capsule. Following surgery, the patient could count fingers at a 30cm distance from his eyes. Optic nerve meningiomas existed in both orbits in different sizes. Early surgery interventions are important for neurofibromatosis patients with ocular symptoms to restore vision.
Neurofibromatosis is an autosomal dominant disease resulting from a mutation in the tumor suppressor gene. It is generally classified into two distinct disorders: type 1 neurofibromatosis (NF 1, von Recklinghausen’s disease) and type 2 neurofibromatosis (NF 2). Both types are characterized by multiple neoplasias. Ophthalmic signs include, but are not limited to, juvenile cataracts, retinal hamartomas, and epiretinal membranes as discussed in the literature. Here we report a rare case of neurofibromatosis type 2 with clinical features of type 1 who had evidence of both a unilateral cataract and optic nerve meningiomas in China.