title: [Aplasia and hypoplasia of the optic nerve. Comparison of 2 cases].
abstract: Hypoplasia and aplasia of the optic nerve are congenital anomalies characterized respectively by a marked volume reduction (very small papilla, often identifiable only as a rosy-yellowish area from which the retinal vessels emerge) and by the absence of the optic disk (absence of the nerve and mainly of its vessels) and of the visual functions. These anomalies are often associated with malformations of the central nervous system and of the ocular structures. The defects originate in the embryonal period due to the arrested development of the mesodermal component towards the head of the optic nerve. The aim of this study is to try to interpret the different clinical manifestations of the disease by observing two cases (a female and a male) with a clinical picture of aplasia and hypoplasia of the optic nerve respectively. Both cases presented the following clinical characteristics: developmental defects of the optic nerve, severe microcephaly, positive IgG antibodies against CMV. The association of the optic nerve defect with microcephaly is due to the embryogenic origin of the optic vescicle by prosencephalon. The resulting clinical picture is probably the outcome of an interfering process that the authors have presumed in CMV intrauterine infection, after having excluded the most frequent teratogenic agents (maternal diabetes, tabagism, intake of alcohol ad drugs). Moreover, the different degree of ocular involvement and the different time of onset of the intrauterine pathogenic insult in the two cases could account for the different clinical pictures.
authors.affiliation: Divisione e Cattedra di Neuropsichiatria Infantile, Istituto Scientifico G. Gaslini, Genova.
authors.forename: C
authors.initials: C
authors.lastname: Pisaturo
authors.forename: A
authors.initials: A
authors.lastname: Dolci
authors.forename: A
authors.initials: A
authors.lastname: Pessagno
authors.forename: G L
authors.initials: GL
authors.lastname: Padua
authors.forename: D A
authors.initials: DA
authors.lastname: Dassio
authors.forename: M
authors.initials: M
authors.lastname: De Negri
mesh_terms: D003586:Cytomegalovirus Infections / Q000150:complications / Q000196:embryology / Q000276:immunology; D005260:Female; D006801:Humans; D007074:Immunoglobulin G / Q000276:immunology; D007075:Immunoglobulin M / Q000276:immunology; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000150:complications / Q000175:diagnosis / Q000196:embryology; D009900:Optic Nerve / Q000002:abnormalities* / Q000196:embryology / Q000276:immunology; D011247:Pregnancy; D011297:Prenatal Exposure Delayed Effects
chemical_list: D007074:Immunoglobulin G; D007075:Immunoglobulin M
vernacular_title: Aplasia ed ipoplasia del nervo ottico. Comparazione di due casi.