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.
Department of Clinical Science, Division of Paediatric Ophthalmology, Karolinska Institutet, Huddinge University Hospital, Stockholm, Sweden. kristina.fahnehjelm@klinvet.ki.se
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Teär Fahnehjelm
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Wide
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Flodmark
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Ek
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Hellström
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