Optical coherence tomography characteristics of epiretinal membranes in neurofibromatosis 2

Neurofibromatosis 2 is a neurocutaneous disorder that demonstrates unique ophthalmic manifestations. Several authors have noted a higher than expected incidence of epiretinal membranes in this population. In this brief case series, the authors document a series of optical coherence tomography (OCT) scans performed on three patients with neurofibromatosis 2 that demonstrated epiretinal membranes with atypical and distinctive characteristics. The membranes were unusually thick, with rolled edges extending into the vitreoretinal interface. The appearance of these membranes was distinct enough to establish a pattern. In one case, the unique OCT findings were the sole reason that the diagnosis of neurofibromatosis 2 was established. Ophthalmologists should consider neuroimaging in a child with any of these findings to rule out a diagnosis of neurofibromatosis 2, even if the patient is otherwise asymptomatic.