This report presents a rare example of a bilateral congenital anophthalmos and an agenesis of the optic pathways. The MR imaging studies revealed that the eyeballs, optic nerves, optic chiasm, optic tracts and optic radiation were absent. The chromosomal examination was normal. Mild mental retardation was also observed. Apart from the rarity of the anophthalmos and the total absence of the optic pathways, no etiologic reason for this pathology could be detected, which makes this case more significant.
Abnormalities, Multiple/diagnosis ; Adult ; Anophthalmos/*complications ; Female ; Humans ; Magnetic Resonance Imaging ; Mental Retardation/complications ; Optic Chiasm/abnormalities ; Optic Nerve/abnormalities ; Visual Pathways/*abnormalities/pathology

Septo-optic dysplasia is a rare congenital disorder characterized by the absence of the septum pallucidum, hypoplasia of the optic chiasma and nerves, and various types of hypothalamic-pituitary dysfunction. Schizencephaly is an abnormal cleft in the brain, lined with gray matter which may communicate with the ventricular system. Septo-optic dysplasia with schizencephaly is associated with endocrinologic disorders, visual impairment, mental retardation, and seizures. We report a case of septo-optic dysplasia with schizencephaly which was diagnosed in the early neonatal period.
Brain ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Intellectual Disability ; Malformations of Cortical Development ; Optic Chiasm ; Seizures ; Septo-Optic Dysplasia ; Vision Disorders