Tomografia de coerência óptica da retina contribui para o diagnóstico da neurofibromatose tipo 2

Abstract

Retinal Optical Coherence Tomography Contributes To the Diagnosis of Neurofibromatosis Type 2 Background: 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. A well-defined spectrum of ocular features has been specifically associated with NF2. More studies are needed on the prevalence, consequences and prognosis for the reported ophthalmologic findings. The present study evaluated retinal abnormalities using spectral domain optical coherence tomography (SD-OCT) in a case-series of NF2 patients. This is the largest series of NF2 eyes that were evaluated with retinal SD-OCT published to date, and it contributes valuable information about the disorder. Methods: Nine NF2 patients from the neurofibromatosis outpatient reference center of Federal University of Minas Gerais, Brazil underwent a detailed ophthalmic and medical history and a comprehensive 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. Results: SD-OCT scans revealed retinal abnormalities in all patients 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. Conclusion: SD-OCT revealed retina and vitreous alterations in most patients with NF2, and it is a valuable exam for evaluating them. It was well tolerated for all patients with NF2, including children and/or patients with disabling conditions. ERM in NF2 has unique features, distinguishing it from idiopathic ERM or membranes associated xii with other diseases. We suggest that flame-shaped ERM seems to be specific for NF2 and that ERM could be included in the NF2 diagnostic criteria.