title: Spectral-Domain Optical Coherence Tomography Findings in Neurofibromatosis Type 2.
abstract: Neurofibromatosis type 2 (NF2) is an autosomal-dominant disease, characterized by bilateral vestibular schwannomas, multiple central nervous system (CNS) tumors, skin tumors, and juvenile cataract. The present study assessed retinal abnormalities using spectral-domain optical coherence tomography (SD-OCT) in a case series of NF2 patients.
  
  
  
  Nine NF2 patients from the neurofibromatosis outpatient reference center of the Federal University of Minas Gerais, in Brazil, were submitted to a complete anamnesis and a detailed ophthalmic evaluation, including SD-OCT, to detect retinal lesions.
  
  
  
  Of the nine NF2 patients evaluated, five had an early onset (<20 years) of NF2, and four patients had a late onset (>20 years) of symptoms. SD-OCT scans revealed retinal abnormalities in every patient with early onset (EOS) and in two patients with late onset (LOS) of the disease. In the EOS group, SD-OCT scans revealed flame-shaped epiretinal membranes (ERM) with peculiar characteristics in four eyes of three patients. Two patients had fine undulations of the inner retinal surface with a subtle ERM. Retinal hamartomas were present in four eyes of three patients with EOS; in two eyes, they were subclinical and were detected only by SD-OCT scans. In two patients with LOS and one patient with EOS, SD-OCT scans revealed retinal tufts of a nerve fiber layer.
  
  
  
  SD-OCT revealed ERM in most patients with NF2, therefore it may be a valuable exam for evaluating NF2 patients. Epiretinal membranes in NF2 has unique features, distinguishing it from idiopathic ERM or membranes associated with other diseases. We suggest that flame-shaped ERM seems to be specific for NF2 and that ERM can be considered as an important diagnostic sign of NF2.
authors.affiliation: Department of Ophthalmology Clinical Hospital of Federal University of Minas Gerais, Belo Horizonte (MG), Brazil.
authors.forename: Vanessa
authors.initials: V
authors.lastname: Waisberg
authors.affiliation: Department of Clinical Medicine and Neurofibromatosis Reference Center, Clinical Hospital of Federal University of Minas Gerais, Belo Horizonte (MG), Brazil.
authors.forename: Luiz Oswaldo Carneiro
authors.initials: LO
authors.lastname: Rodrigues
authors.affiliation: Department of Ophthalmology Clinical Hospital of Federal University of Minas Gerais, Belo Horizonte (MG), Brazil.
authors.forename: Márcio Bittar
authors.initials: MB
authors.lastname: Nehemy
authors.affiliation: Department of Ophthalmology Clinical Hospital of Federal University of Minas Gerais, Belo Horizonte (MG), Brazil.
authors.forename: Maria
authors.initials: M
authors.lastname: Frasson
authors.affiliation: Department of Pediatrics and INCT Molecular Medicine, Clinical Hospital of Federal University of Minas Gerais, Belo Horizonte (MG), Brazil.
authors.forename: Débora Marques
authors.initials: DM
authors.lastname: de Miranda
mesh_terms: D000293:Adolescent; D000328:Adult; D019773:Epiretinal Membrane / Q000175:diagnosis* / Q000209:etiology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D016518:Neurofibromatosis 2 / Q000150:complications* / Q000175:diagnosis; D012160:Retina / Q000473:pathology*; D012189:Retrospective Studies; D041623:Tomography, Optical Coherence / Q000379:methods*; D014792:Visual Acuity; D055815:Young Adult