Rare Case of Ocular Manifestation of Neurofibromatosis
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https://doi.org/10.56692/upjo.2025130110Keywords:
Neurofibromatosis type 1, Sphenoid wing agenesis, Orbital meningo-encephalocele, Pulsatile proptosis.Dimensions Badge
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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.Abstract
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.
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