[Congenital mydriasis as an initial sign of septo-optic dysplasia]

Abstract

Septo-optic dysplasia (SOD)[MIM182230] consisting of a heterogeneous and uncommon condition characterised by the classictriad: optic nerve hypoplasia, abnormalities of pituitary hormone, and defects of thebrain midline (including agenesis of the septum pellucidum and/or the corpus callosum; ithas also been described associated cortical malformations, it was referred to as SOD plus syndrome).We report the first known case in which the initial diagnostic sign of SOD was a bilateralmydriasis as a manifestation ofhypoplasia of both optic nerves, pituitary hypoplasia andcerebral dysgenesis with neuronal migration disorder.We discuss thedifferential diagnosis of congenital mydriasis.

Keywords: Agenesia septum pellucidum; Agenesis septum pellucidum; Alteración migración neuronal; Amaurosis; Congenital mydriasis; Displasia septo-óptica; Hipoplasia nervio óptico; Impaired neuronal migration; Midriasis; Midriasis congénita; Morsier syndrome; Mydriasis; Optic nerve hypoplasia; Septo-optic dysplasia; Síndrome de Morsier.