A Case Series on Ocular and Systemic Manifestations in Neurofibromatosis Type 1

Authors

  •   A. P. Shanthi Department of Ophthalmology, Thanjavur Medical College and Hospital, Thanjavur-613004, Tamil Nadu
  •   Iswaria Shyamala Rani Department of Ophthalmology, Thanjavur Medical College and Hospital, Thanjavur-613004, Tamil Nadu
  •   Vijaya Shanmugam Department of Ophthalmology, Thanjavur Medical College and Hospital, Thanjavur-613004, Tamil Nadu

DOI:

https://doi.org/10.65129/surgical.v1i2.7

Keywords:

Cafe-Au-Lait Spots, Choroidal Abnormalities, Lisch Nodules, Neurofibromatosis Type 1, Plexiform Neurofibroma, Pseudo Arthrosis, Pulsatile Proptosis, Sphenoid Wing Dysplasia, Ocular Manifestations

Abstract

This case series presents five patients diagnosed with Neurofibromatosis Type 1 (NF 1), each exhibiting a range of ocular and systemic manifestations. Ocular findings included Lisch nodules in all patients, with three demonstrating choroidal abnormalities and one presenting with pulsatile proptosis secondary to sphenoid wing dysplasia. Additional features included a plexiform neurofibroma of the eyelid, cafe - au- lait spots, pseudo arthrosis of the tibia, neurofibroma nodules, and positive family history. In several cases, ophthalmic features were the initial clue prompting further systemic evaluation and eventual diagnosis of NF 1. This series highlights the critical role of comprehensive eye examination in the early detection of NF 1 and underscores the need for multidisciplinary collaboration in the management of this multisystem disorder.

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Published

2025-06-25

How to Cite

A. P. Shanthi, Rani, I. S., & Shanmugam, V. (2025). A Case Series on Ocular and Systemic Manifestations in Neurofibromatosis Type 1. Journal of Surgery and Surgical Specialities, 1(2), 70–74. https://doi.org/10.65129/surgical.v1i2.7

Issue

Volume 1, Issue 2, June 2025

Section

Case Series

License

Copyright (c) 2026 Journal of Surgery and Surgical Specialities

Creative Commons License

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

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