Case of the month. Neurofibromatosis type 1.
A 22-year-old white female presented to the Jones Eye Institute (JEI) complaining of pain and blurred vision in her left eye (OS). Slit-lamp examination revealed Lisch's nodules, and physical examination revealed multiple cutaneous neurofibromas and café-au-lait spots leading to a new diagnosis of neurofibromatosis type 1 (NF-1).
D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D009456:Neurofibromatosis 1 / Q000175:diagnosis*