Vanessa Waisberg1, Luiz Oswaldo Carneiro Rodrigues2, Márcio Bittar Nehemy1, Maria Frasson1, Débora Marques de Miranda3. 1. Department of Ophthalmology Clinical Hospital of Federal University of Minas Gerais, Belo Horizonte (MG), Brazil. 2. Department of Clinical Medicine and Neurofibromatosis Reference Center, Clinical Hospital of Federal University of Minas Gerais, Belo Horizonte (MG), Brazil. 3. Department of Pediatrics and INCT Molecular Medicine, Clinical Hospital of Federal University of Minas Gerais, Belo Horizonte (MG), Brazil.
Abstract
PURPOSE: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
PURPOSE: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 NF2patients. METHODS: Nine NF2patients from the neurofibromatosisoutpatient 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. RESULTS: Of the nine NF2patients 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. CONCLUSIONS:SD-OCT revealed ERM in most patients with NF2, therefore it may be a valuable exam for evaluating NF2patients. 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.