Posterior ocular malformations in children: somatic, neuroradiological and cognitive aspects.
OBJECTIVE
To investigate associated neurological, endocrinological and cognitive dysfunctions in children with visual impairment caused by optic nerve hypoplasia or optic nerve/fundus coloboma and/or microphthalmus.


METHODS
Forty children born between 1990 and 1998 were assessed by neurological examination, re-evaluation of neuroradiological investigations, review of medical records and examination of cognitive levels.


RESULTS
Neurological dysfunctions (epilepsy and/or motor impairment) were found in 13/28 children with optic nerve hypoplasia and in 3/12 children with coloboma/microphthalmus. The optic pathways were thin in 22/24, an abnormal posterior pituitary gland and/or thin infundibulum was found in 16/22 and absence of septum pellucidum in 14/27 children with optic nerve hypoplasia. Other types of cerebral abnormalities occurred in 9/26 children. Among children with coloboma/microphthalmus, the optic pathways were thin in 4/8 children but none had pituitary or cerebral midline abnormalities. Sixteen children with optic nerve hypoplasia were receiving hormone substitution but none of the children with coloboma/microphthalmus. Thirteen of the 16 children with optic nerve hypoplasia and with an abnormal pituitary region had endocrinological deficiencies. Mental retardation was found in 9/24 of the children with optic nerve hypoplasia and in 5/10 of the children with coloboma/microphthalmus.


CONCLUSIONS
Endocrinological. neurological and neuroradiological defects seem more common in children with optic nerve hypoplasia than in children with coloboma. A pituitary region that appears abnormal in magnetic resonance imaging seems to predict endocrinological deficits in children with optic nerve hypoplasia.
Teär Fahnehjelm
K
K
Department of Clinical Science, Division of Paediatric Ophthalmology, Karolinska Institutet, Huddinge University Hospital, Stockholm, Sweden. kristina.fahnehjelm@klinvet.ki.se
Wide
K
K
Flodmark
O
O
Ek
U
U
Hellström
A
A
D001766:Blindness / Q000000981:diagnostic imaging / Q000209:etiology* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003072:Cognition Disorders / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D003103:Coloboma / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D004700:Endocrine System Diseases / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D005124:Eye Abnormalities / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D005260:Female; D006801:Humans; D007003:Hypoglycemia / Q000150:complications* / Q000151:congenital* / Q000000981:diagnostic imaging; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008850:Microphthalmos / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D009422:Nervous System Diseases / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D009485:Neuroradiography; D009901:Optic Nerve Diseases / Q000150:complications* / Q000151:congenital* / Q000000981:diagnostic imaging; D012307:Risk Factors; D012720:Severity of Illness Index