Authors : Divya D.
DOI : 10.18231/2581-5016.2018.0035
Volume : 4
Issue : 3
Year : 0
Page No : 140-143
Neurofibromatosis, an oculo-?neuro-?cutaneous syndrome is characterized by multisystem involvement. A 65 years old male patient came to the dept. of ophthalmology, S. V. R. R. Govt. General Hospital, Tirupati with the complaints of protrusion of his left eye, noticed by him 20 days back, with a history of drooping of left upper eyelid. On physical examination, the patient was short statured (Ht: 148cm) with scoliosis, there were multiple neurofibromas on the skin all over the body and face, freckles in the axillary region and café-?au-?lait spots over his trunk. On ocular examination, the patient had eccentric proptosis of left eye where the eyeball was shifted downwards (Hypotropia of 450) and forwards (24mm on exophthalmometry) with severe ptosis of left upper eyelid with restriction of extraocular movements. No palpable mass was noted. Finger insinuation between the orbital margin and the globe was possible. Right eye was normal. Slitlamp examination showed multiple Lisch nodules on the surface of iris in both eyes. Fundoscopy showed inferior coloboma choroid of left eye with normal fundus picture in Right eye Binocular diplopia was noted on elevating the upper eyelid of left eye. Forced duction test was positive. CT scan showed proptosis of left eye. Ultrasound B-?scan of left eye showed a well defined mass lesion of 1.5x2cm size, slightly hyperechoic, with minimal vascularity, situated away from the globe, along the lateral aspect of the orbit suggestive of Orbital neurofibroma. The rare entity in the present case is the Localized form of orbital neurofibroma. Diagnosis in the present case is clinical. Linkage analysis using polymorphic DNA markers can be performed, allowing prenatal diagnosis or presymptomatic diagnosis.
Keyword: Oculoneurocutaneous syndrome, Orbital neurofibroma, Lisch nodules