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Ocular Neurofibromatosis.

Saba Alkhairy1, Mahad M Baig1

  • 1Ophthalmology, Dow International Medical College, Dow University of Health Sciences, Karachi, PAK.

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|October 18, 2021
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Summary
This summary is machine-generated.

A pediatric patient presented with a growing orbital lid mass causing vision impairment. Surgical excision and biopsy confirmed a plexiform lesion, potentially linked to neurofibromatosis type 1.

Keywords:
eye ptosiseye surgeryeyelid masseyelid neurofibromaneurofibromatosis type 1 (nf-1)orbitalplexiform neurofibromasupper blepharoplasty

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Area of Science:

  • Ophthalmology
  • Dermatology
  • Genetics

Background:

  • Orbital lid masses can present with cosmetic and functional concerns.
  • Neurofibromatosis type 1 is a genetic disorder that can manifest in various tissues, including the orbit.

Observation:

  • A 14-year-old boy exhibited a right orbital lid mass with 4.5 years of slow growth and decreased visual acuity.
  • Ophthalmological examination revealed no abnormalities in intraocular pressure, pupillary reflexes, or fundus.
  • The mass caused significant disfigurement and potential risk of increased severity.

Findings:

  • Surgical excision of the orbital lid mass was performed using a blepharoplasty incision, horizontal wedge resection, and frontalis sling under general anesthesia.
  • Histopathological analysis of the excised mass identified it as a plexiform lesion.
  • The findings suggest a possible association with neurofibromatosis type 1.

Implications:

  • Early diagnosis and surgical intervention are crucial for managing orbital plexiform lesions.
  • This case highlights the importance of considering neurofibromatosis type 1 in pediatric patients with orbital masses.
  • Further investigation may be warranted to confirm or rule out neurofibromatosis type 1 and guide long-term management.