Rare Case of Ocular Manifestation of Neurofibromatosis

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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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Issue

Vol. 13 No. 01 (2025): UP Journal of Ophthalmology

Section

Case Report

License

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.

© Author, Open Access. This article is licensed under a CC Attribution 4.0 License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit https://creativecommons.org/licenses/byncsa/4.0/.

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. 25];13(01):38-41. Available from: https://upjo.org/index.php/upjo/article/view/581

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