Enucleation in a patient with neurofibromatosis type 1 with buphthalmos and ocular deformity

ABSTRACT

In infants with neurofibromatosis type 1, plexiform neurofibroma with altering anterior segment outflow system may result in raised intraocular pressure. Here we report a case of buphthalmos with neurofibromatosis [NF-1] who suffered with blindness suffered enucleation. Physical examination and histopathology were performed. Physical examination revealed Buphthalmos and vascularized cornea with lower lid ectropion and orbital deformity. Histopathologic findings showed plexiform neurofibroma in orbital tissue with scleral wall involvement. And hamartomatous proliferation in choroid and cilliary bodies with melanocytic elements. Few NF-1 cases with buphthalmos have been reported. But cases with complicationg buphthalmos [retinal detachment and optic nerve atrophy] suffering enucleation are very rare