Physiologic Dysfunction Precedes Retinal Ganglion Cell Loss in Mice with Neurofibromatosis and Optic Pathway Gliomas

We report previously unrecognized developmental abnormalities of retinal ganglion cell (RGC) anatomy and physiology that may help explain a striking disparity in young children with neurofibromatosis type 1 (NF1) who develop optic pathway gliomas (OPGs): the degree of visual loss is inadequately predicted by tumor characteristics or treatment response. In an animal model, we find RGC loss in discrete sectors months after tumor formation, but also greatly disrupted physiology among surviving retinal ganglion cells (RGCs).