[Neurofibromatosis type 1 initially presented with glaucoma in the Department of Ophthalmology: a case report].

ABSTRACT

An eleven-year-old boy visited the Department of Ophthalmology due to visual acuity loss accompanied by high intraocular tension in the left eye for one year. Besides glaucoma, the typical ocular manifestations of neurofibromatosis type 1 such as bilateral Lisch nodules of the iris, multiple patchy choroidal nodules and retinal microvascular abnormalities were identified, and Cafe-au-lait macules appeared on the body skin. Based on the medical history, clinical presentation and auxiliary examination results, the diagnosis of neurofibromatosis type 1 with secondary glaucoma in the left eye was confirmed.