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Optic nerve hypoplasia in cholestatic infants: a multiple case study
Kristina Teär Fahnehjelm1, Björn Fischler, Lena Jacobson
1Department of Paediatric Ophthalmology, Karolinska Institutet, Huddinge University Hospital, Stockholm, Sweden. kristina.fahnehjelm@klinvet.ki.se
Insights
This study highlights the link between infant cholestasis and optic nerve hypoplasia. Early multidisciplinary assessment is crucial for affected infants.
Area of Science:
- Ophthalmology
- Hepatology
- Pediatrics
Background:
- Optic nerve hypoplasia (ONH) is a congenital condition.
- Cholestasis in infants can have various underlying causes.
Observation:
- Four infants presented with cholestasis and were diagnosed with ONH.
- Visual impairment ranged from blindness to low vision in affected children.
- All infants exhibited central nervous system and/or endocrine dysfunction.
Findings:
- A significant association was observed between cholestasis and ONH in infants.
- While liver disease outcomes appeared favorable, neurological and endocrine issues were common.
- Septo-optic dysplasia was present in only one case, indicating varied presentations.
Implications:
- Emphasizes the need for early ophthalmological evaluation in infants with cholestasis.
- Highlights the importance of a multidisciplinary approach for comprehensive infant care.
- Suggests ONH should be considered in the differential diagnosis of cholestatic infants.
Purpose:
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.
Conclusion:
Early assessment by a paediatric ophthalmologist as well as a multidisciplinary approach is of great importance in cholestatic infants.