Related Experiment Videos

Pseudopapilledema in neurofibromatosis type 2

G T Lueder1, J T Doll

  • 1Departments of Ophthalmology and Visual Sciences and Pediatrics, St Louis Children's Hospital, Washington University School of Medicine, St Louis, MO 63110, USA. luederg@seer.wustl.edu

Abstract

Insights

Neurofibromatosis type 2 can cause pseudopapilledema due to epiretinal membranes. This case highlights the importance of considering pseudopapilledema in NF2 patients with optic nerve abnormalities.

Area of Science:

  • Ophthalmology
  • Neuro-oncology
  • Genetics

Background:

  • Neurofibromatosis type 2 (NF2) is a genetic disorder characterized by the development of tumors in the nervous system.
  • Optic nerve abnormalities can occur in NF2 patients, necessitating careful differential diagnosis.

Observation:

  • A 14-year-old male with NF2 presented with fundus examination findings suggestive of optic nerve elevation in the right eye.
  • A perifoveal epiretinal membrane was noted overlying the optic disc.

Findings:

  • Ocular examination revealed irregular optic nerve elevation and a prepapillary epiretinal membrane.
  • Fluorescein angiography showed no abnormal autofluorescence or leakage, ruling out optic disc edema.

Implications:

  • This case illustrates pseudopapilledema as a manifestation of NF2, secondary to a prepapillary gliotic membrane.
  • Clinicians should consider pseudopapilledema in the differential diagnosis of optic nerve abnormalities in patients with NF2.

Related Concept Videos