No abstract

Neurofibromatosis 1 (NF1) is a rare genodermatoses in which there is involvement of the skin, eye, peripheral nervous system and skeletal system. Congenital glaucoma occurs in 1 in 300 NF1 patients. A 6 year old boy presented to us with defective vision in the left eye since 4 years. On examination the child had, café-au-lait spots, reduced visual acuity, Lisch nodules, increased corneal diameter, with glaucomatous cupping of optic nerve. Based on these findings, a diagnosis of congenital glaucoma with NF1 was made. The child was started on anti glaucoma medication for which he was non compliant and hence trabeculectomy was performed and the pressures are being maintained till date. Hence, if the diagnosis of NF1 is made, eye examinations are recommended in children for early detection of increased intraocular pressure or other ophthalmological manifestations and to reduce visual morbidity.