DR. GAUTAM JAIN

DR. ASHOK RATHI, DR. RAJENDRA SINGH CHAUHAN, DR. SONAM GILL

Abstract

Neurofibromatosis type 1 (NF-1), also known as Recklinghausen’s disease, is an autosomal dominant disorder involving multiple systems and affects approximately 1 out of 3000 persons. Ocular manifestations are lisch nodules, plexiform neurofibroma, optic pathway gliomas. Proper diagnosis of NF-1 is pivotal due to the various ocular clinical manifestations and life threatening malignancies in few patients. A 14 year old female presented to out patient department with complaints of muddy discoloration and irritation of both eyes. Her uncorrected visual acuity was 6/6 in both the eyes. Intra ocular pressure was normal in both eyes. On slit lamp examination, cornea was clear with normal reacting pupil in both eyes with multiple small hypo-pigmented elevated lesions over the iris in both eyes suggestive of Lisch nodule. Fundoscopy was normal in both eyes. She also had multiple pigmented lesions over the trunk. Further ophthalmic and paediatric evaluation confirmed the diagnosis of NF-1.