Rare Case of Ocular Manifestation of Neurofibromatosis

Published

2025-04-30

DOI:

https://doi.org/10.56692/upjo.2025130110

Keywords:

Neurofibromatosis type 1, Sphenoid wing agenesis, Orbital meningo-encephalocele, Pulsatile proptosis.

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Authors

  • Parul Singh Department of Ophthalmology, GSVM Medical College, Kanpur, Uttar Pradesh, India.
  • Shefali Pandey Department of Ophthalmology, GSVM Medical College, Kanpur, Uttar Pradesh, India
  • Shaffi Chopra Department of Ophthalmology, GSVM Medical College, Kanpur, Uttar Pradesh, India

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.

How to Cite

1.
Singh P, Pandey S, Chopra S. Rare Case of Ocular Manifestation of Neurofibromatosis. UPJO [Internet]. 2025 Apr. 30 [cited 2025 Jul. 4];13(01):38-41. Available from: https://upjo.org/index.php/upjo/article/view/581

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