Journal international de pathologie ophtalmique

Neurofibromatosis Type 2: Recognising Cortical-and Retinal Dysplasia as Early Diagnostic Indicators

Jessica A Radley*, Juliette Gair, Fiona Dean, Daniel Scoffings, CK Patel, Saba Sharif, Martin English and Nicola K Ragge (United Kingdom)  

Neurofibromatosis type 2 (NF2) is a rare tumorigenic disorder with manifestations from childhood. Recognition of early childhood signs could prompt earlier diagnosis of NF2, improving management. We present two case reports of children with NF2; both with cortical dysplasia and one with additional with retinal folds. The cases demonstrate corticaland retinal dysplasia as early manifestations and emerging signs of NF2. We suggest that they are considered as additional minor diagnostic criteria for NF2.