title: Rare case of optic pathway glioma with extensive intra-ocular involvement in a child with neurofibromatosis type 1.
abstract: We present a case of a 3-year-old girl with a positive family history of neurofibromatosis type-1 (NF1) presented with best corrected visual acuity of 20/40 in the right eye and <20/400 in the left eye. External ocular examination revealed left eye proptosis of 3 mm, grade II left relative afferent pupillary defect and full range of ocular motility with no strabismus. Slit lamp examination revealed iris lisch nodules bilaterally. Dilated fundus examination of the right eye was normal. Left eye disclosed a large mass extending from the optic nerve head, with associated subretinal fluid. There was neovascularization at the optic disc as well as a superior retinal hemorrhage. Computed tomography of brain/orbits showed an enlarged left optic nerve with a large mass at the optic nerve head, with no evidence of calcification. In addition, a large left optic pathway glioma (OPG), multiple hamartomas within the brain and a smaller low-grade right OPG was also reported. The remarkable feature of our case is the rare intraocular optic nerve involvement of the OPG. Early and regular ophthalmological assessment of all NF1 suspect/confirmed cases is of paramount importance in order to detect OPG early, resulting in timely intervention and salvage of vision.
authors.affiliation: Department of Surgery, McMaster University, Hamilton, Ontario, Canada.
authors.forename: Vasudha
authors.initials: V
authors.lastname: Gupta
authors.affiliation: Department of Surgery, McMaster University, Hamilton, Ontario, Canada.
authors.forename: Kourosh
authors.initials: K
authors.lastname: Sabri
authors.affiliation: Department of Surgery, McMaster University, Hamilton, Ontario, Canada.
authors.forename: Kaitlyn F
authors.initials: KF
authors.lastname: Whelan
authors.affiliation: Department of Surgery, McMaster University, Hamilton, Ontario, Canada.
authors.forename: Virginia
authors.initials: V
authors.lastname: Viscardi
mesh_terms: D000972:Antineoplastic Agents, Phytogenic / Q000627:therapeutic use; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009456:Neurofibromatosis 1 / Q000188:drug therapy / Q000235:genetics / Q000473:pathology*; D025542:Neurofibromin 1 / Q000235:genetics; D009898:Optic Disk / Q000473:pathology; D020339:Optic Nerve Glioma / Q000188:drug therapy / Q000235:genetics / Q000473:pathology*; D019574:Optic Nerve Neoplasms / Q000188:drug therapy / Q000235:genetics / Q000473:pathology*; D017354:Point Mutation; D058471:Subretinal Fluid; D014747:Vinblastine / Q000627:therapeutic use; D014792:Visual Acuity / Q000502:physiology
chemical_list: D000972:Antineoplastic Agents, Phytogenic; D025542:Neurofibromin 1; D014747:Vinblastine
keywords: Genetic Disease; Optic Nerve; Tumors