Bilateral optic nerve hypoplasia.
In the past 10 years, 15 children with bilateral optic nerve hypoplasia have been studied at the Royal Alexandra Hospital for Children. There were 5 boys and 10 girls. Nine were first-born and they presented at a mean age of 5 months (range: 4 days to 25 months). Five presented with suspected blindness and 7 with abnormal eye movements (nystagmus or less commonly squint). The other 3 presented because of fits or developmental delay. Eight showed evidence of neural damage--microcephaly, seizures and/or abnormalities of tone. Four appeared to be of normal or near normal intelligence, 6 were mildly retarded and 5 severely so. Two patients had already died, one suddenly. Six of the 7 cases investigated in detail had evidence of hypothalamic pituitary dysfunction. Another one had a minimal hypothalamic abnormality. Four were severely growth retarded and 2 were receiving growth hormone replacement. Two males had micropenis and a girl had precocious puberty with partial diabetes insipidus. Neuroradiological investigations showed an absent septum pellucidum in only 5 cases. Five patients had other major CNS malformations. Five patients had normal CT scans; 3 of these 5 appeared of normal intelligence and all 5 had normal neurological examinations. Bilateral optic nerve hypoplasia is frequently associated with serious brain and endocrine abnormalities.
D001921:Brain / Q000002:abnormalities / Q000000981:diagnostic imaging; D002675:Child, Preschool; D004700:Endocrine System Diseases / Q000150:complications; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009900:Optic Nerve / Q000002:abnormalities*; D011379:Prognosis; D011859:Radiography; D014786:Vision Disorders / Q000209:etiology