Rare Case of Ocular Manifestation of Neurofibromatosis

Abstract

Neurofibromatosis type 1 (NF-1) is a common autosomal dominant disorder affecting multiple systems. It presents with neurofibromas, skeletal deformities, and ophthalmic manifestations. This case highlights a rare occurrence of sphenoid wing agenesis, leading to orbital meningo-encephalocele and severe ocular displacement.
A 39-year-old male presented with a history of mass overhanging his right eyelid involving the right periorbital area since his childhood, which was gradually increasing in size and causing disfigurement of his face.