Surgical Removal of an Atypical Macular Epiretinal Membrane in Neurofibromatosis Type 2: Clinicopathologic Correlation and Visual Outcome

Successful surgical management of bilateral epiretinal membrane in a child with only café-au-lait spots

“…[89] However, only one report in literature mentions the surgical management of ERM in a child with NF where the significance of visual improvement could not be determined. [7] In our study, the child had trouble with schoolwork due to decreasing vision caused by the macular distortion. He had only café-au-lait spots and a positive family history of NF.…”

“…[36] ERMs in NF 2 are thought to be hamartomatous in origin as evidenced by histopathological examination (HPE). [7] We here describe surgical management of ERM in both eyes with successful visual outcome in a child with café-au-lait spots and a family history of vestibular schwannoma and NF 2.…”

Spectral-Domain Optical Coherence Tomography Findings in Neurofibromatosis Type 2

“…In the left eye, they found a thick ERM consisting of cords that are predominantly cuboidal cells, which are consistent with Müller cells and an astrocyte origin. Han et al 31 described the histologic features of an ERM that was surgically removed in a 2-year-old child. They found a highly cellular membrane with up to four layers of cells of indeterminate origin and speculated that the NF2 ERM is hamartomatous in origin.…”

“…33 Owing to the abnormal adherens junctions, Müller cells that have lost their wild-type NF2 allele may not be able to elongate and establish radial polarity, leading to epiretinal accumulation. 31 Müller cells, like the other main cell types affected in NF2, are glial cells with epithelial features, suggesting that this subset of glial cells is particularly sensitive to NF2 loss. Neurofibromatosis 2 hamartomas result from mutations in the cytoskeletal protein encoded in the long arm of chromosome 22, which functions as a tumor suppressor.…”