objective the diagnosis of de morsier syndrome or septo-optic dysplasia is made on the basis of the diagnosis of optic nerve hypoplasia. septo-optic dysplasia is defined by a variable combination of dysgenesis of midline brain structures including optic nerve hypoplasia and hypothalamic-pituitary dysfunction often associated with a wide variety of brain malformations of cortical development. th...

BACKGROUND Developmental delay has been reported to occur with optic nerve hypoplasia, a leading cause of pediatric blindness, but has not been systematically examined for its prevalence and correlation with associated pathologies of optic nerve hypoplasia. OBJECTIVE The purpose of this study was to determine the developmental outcomes of children with optic nerve hypoplasia and the correlati...

Since its first description optic nerve hypoplasia has been identified with increasing frequency, and a range of associated problems have been described. The major neurological and endocrine associations are well established, but those factors that predispose to the development of optic nerve hypoplasia remain unclear. To understand the aetiology of these problems better, and to formulate a man...

OBJECTIVES To study the epidemiology of optic nerve hypoplasia. DESIGN AND METHODS Children with optic nerve hypoplasia and visual impairment were identified through the Swedish Register of Visually Impaired Children. Pre- and perinatal characteristics were obtained from the Medical Birth Registry and by scrutinizing pregnancy and delivery records. Clinical characteristics of children with op...

Optic nerve hypoplasia with hypopituitarism and intact septum pellucidum is a variant of septo-optic dysplasia or deMorsier's syndrome.' Although neonatal jaundice has been seen with this syndrome, the association with severe prolonged cholestatic jaundice has not been emphasised. We describe three patients who presented with cholestatic jaundice and were found to have optic nerve hypoplasia an...

Optic nerve hypoplasia with hypopituitarism and intact septum pellucidum is a variant of septo-optic dysplasia or deMorsier's syndrome.' Although neonatal jaundice has been seen with this syndrome, the association with severe prolonged cholestatic jaundice has not been emphasised. We describe three patients who presented with cholestatic jaundice and were found to have optic nerve hypoplasia an...

OBJECTIVE To investigate whether children with optic nerve hypoplasia and pituitary hormone insufficiencies have specific ocular fundus characteristics that may facilitate early diagnosis and treatment. DESIGN From May 15, 1995, through December 15, 1997, 17 children (8 girls and 9 boys, aged 0.3 to 13 years) with optic nerve hypoplasia were referred to the Department of Pediatric Ophthalmolo...

Septo-Optic Dysplasia (SOD) is a heterogeneous condition defined by any combination of i) optic nerve hypoplasia, ii) hypopituitarism, and iii) midline brain anomalies such as agenesis of the corpus callosum and absence of the septum pellucidum. We encountered a Japanese girl with optic nerve hypoplasia, growth failure, precocious puberty, and mild developmental delay. Her optic nerve hypoplasi...

Abnormalities of the central nervous system are frequently described in optic nerve hypoplasia. In a longitudinal study of 46 consecutive children (32 term, 14 preterm) with bilateral optic nerve hypoplasia 32 (69.5%) had associated neurodevelopmental handicap. Of these, 90% had structural central nervous system abnormalities on computed tomographic brain scans. Neurodevelopmental handicap occu...