Optic nerve hypoplasia in cholestatic infants: a multiple case study.
OBJECTIVE
To present four infants with optic nerve hypoplasia and cholestasis.


METHODS
All patients underwent detailed ophthalmological and hepatological assessment. Their endocrinological and neuroradiological examinations were re-evaluated.


RESULTS
All four infants presented with cholestasis and were subsequently found to have optic nerve hypoplasia. One child was blind according to the WHO definition and two had low vision. The fourth child had unilateral optic nerve hypoplasia and was too young to be assessed with optotypes. All four children had central nervous system and/or endocrine dysfunction. However, only one child had septo-optic dysplasia. The longterm outcome of liver disease seemed favourable in all children.


CONCLUSIONS
Early assessment by a paediatric ophthalmologist as well as a multidisciplinary approach is of great importance in cholestatic infants.
Fahnehjelm
Kristina Teär
KT
Department of Paediatric Ophthalmology, Karolinska Institutet, Huddinge University Hospital, Stockholm, Sweden. kristina.fahnehjelm@klinvet.ki.se
Fischler
Björn
B
Jacobson
Lena
L
Nemeth
Antal
A
D001766:Blindness / Q000209:etiology; D001921:Brain / Q000473:pathology; D002493:Central Nervous System Diseases / Q000150:complications; D002779:Cholestasis / Q000150:complications*; D004700:Endocrine System Diseases / Q000150:complications; D005124:Eye Abnormalities / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009900:Optic Nerve / Q000002:abnormalities*; D025962:Septo-Optic Dysplasia / Q000150:complications; D014786:Vision Disorders / Q000209:etiology; D014785:Vision, Ocular