Dr. BIKRAM DAM

Dr.Sunanda Nandi, Dr.Jawahar Jyoti Kuli

Abstract

VON RECKLINGHAUSEN’S DISEASE is an autosomal dominant disorder, due to mutations of NF-1 gene in chromosome region 17q11.2, encoding neurofibromin protein with rare ocular manifestations like lisch nodules, plexiform neurofibroma, optic pathway gliomas. A 13-year-old boy with an insignificant family history presented with H/O progressive mass over the right hand since his childhood, associated with blurring of vision in Left eye. On examining his Visual acuity R/E- 6/12; L/E-6/60 along with telecanthus and broad nose. Physical Examination revealed more than 20 different sized café au lait spots, with evidence of freckles in the axillary and inguinal region and presence of several soft cutaneous sessile neurofibromas. Both eyes had Lisch nodule on Slit lamp examination. DFP revealed a macular scar in the L/E along with the evidence of old chorioretinitis. The patient was managed with debulking of hand tumour with lateral canthal fixation surgery & advised regular follow up.