Spectral-Domain Optical Coherence Tomography Findings in Neurofibromatosis Type 2

• Published in: Investigative ophthalmology & visual science 2016-07, Vol.57 (9), p.OCT262-OCT267
• Main Authors: Waisberg, Vanessa, Rodrigues, Luiz Oswaldo Carneiro, Nehemy, Márcio Bittar, Frasson, Maria, de Miranda, Débora Marques
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Epiretinal Membrane - diagnosis; Epiretinal Membrane - etiology; Female; Follow-Up Studies; Humans; Male; Middle Aged; Neurofibromatosis 2 - complications; Neurofibromatosis 2 - diagnosis; Retina - pathology; Retrospective Studies; Tomography, Optical Coherence - methods; Visual Acuity; Young Adult
• ISSN: 1552-5783; 1552-5783
• DOI: 10.1167/iovs.15-18919

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 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.