title: Bilateral optic nerve hypoplasia with unilateral retinal vessel abnormality.
abstract: Optic nerve hypoplasia is an uncommon congenital defect of the optic nerve and retina, although recent studies show it occurs more frequently than previously thought. It is characterized by a small, pale optic disc, normal appearing retinal vasculature, and marked visual impairment. This condition may be unilateral or bilateral and familial cases have been described. It may be associated with other defects of the central nervous system but also occurs in otherwise normal individuals. It is different from aplasia of the optic nerve in which there is complete absence of the optic disc and retinal vasculature, usually in a badly malformed eye. The purpose of this communication is to describe the clinical and fluorescent appearance of an infant with bilateral optic nerve hypoplasia and the unilateral abnormality of retinal vessels.
mesh_terms: D004596:Electroretinography; D005451:Fluorescein Angiography; D006801:Humans; D007223:Infant; D008297:Male; D009900:Optic Nerve / Q000002:abnormalities*; D012171:Retinal Vessels / Q000002:abnormalities*