title: Aplasia of the optic nerve.
abstract: Aplasia of the optic nerve is an extraordinarily rare congenital anomaly that affects one or both optic nerves and is associated with the absence of the central retinal vessel and retinal ganglion cells. We report a case of unilateral optic nerve aplasia in a 4-month-old infant who was found to have left microphthalmos on routine postnatal checkup. Family history, antenatal history, and systemic evaluation were unremarkable. Magnetic resonance imaging showed absent left optic nerve with left microphthalmos. The optic chiasm was present and slightly deviated towards the right side. The remaining cerebral and ocular structures were normal.
authors.affiliation: Department of Radiology, Pamela Youde Nethersole Eastern Hospital, Chai Wan, Hong Kong.
authors.forename: Daniel C W
authors.initials: DC
authors.lastname: Tang
authors.affiliation: Department of Radiology, Pamela Youde Nethersole Eastern Hospital, Chai Wan, Hong Kong.
authors.forename: Eric M W
authors.initials: EM
authors.lastname: Man
authors.affiliation: Department of Radiology, Pamela Youde Nethersole Eastern Hospital, Chai Wan, Hong Kong.
authors.forename: Sunny C S
authors.initials: SC
authors.lastname: Cheng
mesh_terms: D001766:Blindness / Q000151:congenital*; D015785:Eye Diseases, Hereditary; D005260:Female; D006801:Humans; D007223:Infant; D008850:Microphthalmos / Q000473:pathology*; D009901:Optic Nerve Diseases / Q000151:congenital*; D012164:Retinal Diseases / Q000151:congenital*; D012165:Retinal Ganglion Cells; D012171:Retinal Vessels / Q000002:abnormalities*
keywords: Magnetic resonance imaging; Optic nerve/abnormalities; Retinal vessels/abnormalities