Epiretinal membranes indicate a severe phenotype of neurofibromatosis type 2

Robert A. Sisk, Audina M. Berrocal, Amy C. Schefler, Sander R. Dubovy, Mislen S. Bauer

Research output: Contribution to journalArticlepeer-review

26 Scopus citations


Purpose: The purpose of this study was to describe a subset of severely affected patients with neurofibromatosis type 2 (NF2), multiple central nervous system tumors, and characteristic retinal lesions. Methods: This is a retrospective observational case series of 4 patients with NF2. The time domain-optical coherence tomography findings of three patients have previously been described in another series. Results: Ophthalmic signs were identified at a mean age of 6 years, and NF2 was diagnosed at a mean age of 11 years. Patients presented with diminished visual acuity in one or both eyes and epiretinal membranes in the absence of posterior vitreous detachment. The biomicroscopic and optical coherence tomography features were distinct from secondary epiretinal membranes or combined hamartomas of the retina and retinal pigment epithelium and pathognomonic for NF2. The ophthalmic manifestations were recognized before neurologic signs and led to the diagnosis of NF2 in 3 of the 4 patients. Each patient had ≥2 central nervous system tumors at the time of diagnosis, and 3 of 4 eventually required neurosurgical interventions for symptomatic, compressive lesions at a mean age of 12 years. Conclusion: Recognition of epiretinal membranes with a characteristic optical coherence tomography appearance may permit early diagnosis in neurologically asymptomatic children with a severe phenotype of NF2.

Original languageEnglish (US)
Pages (from-to)S51-S58
Issue number4 SUPPL. 4
StatePublished - Apr 2010


  • Epiretinal membranes
  • Genetic diseases
  • Neurofibromatosis
  • Optical coherence tomography
  • Pediatric retinal diseases

ASJC Scopus subject areas

  • Ophthalmology


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