Ocular Findings of Neurofibromatosis 2: A Case Study

This Chinese patient was 24 years old, with no family history of neurofibromatosis. He felt feeble, with a history of numbness for 6 weeks in both legs. Gradually, he lost the ability to walk by himself. Urinary urgency and incontinence often occurred. An MRI scan of his cervical, thoracic, and lumbar spinal cord revealed several intraspinal tumors, which suggested neurofibromatosis [1,2] (Figure 1). When the patient was a young boy, many plaques (“cafe-au-lait” macules) and tumors (epidermal and subcutaneous) were noticed all over his skin and scalp (Figure 2). Several skin tumors were removed and histopathologically confirmed as dermatofibromas. At the age of 17 years old, he began to notice hearing loss in both ears. A cranial MRI revealed several masses on both acoustic nerves and the right trigeminal nerve (Figures 3A and 3B). Therefore, the young man was finally diagnosed as neurofibromatosis type 2 by the department of neurosurgery based on his bilateral vestibular schwannoma and intraspinal tumors according to the clinical diagnostic criteria of NF 2 by NIH [3].