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Occurrence and pattern of ocular disease in children with cholestatic disorders
Inst för klinisk neurovetenskap, Karolinska Institutet.
Karolinska Institutet.
Mälardalen University, School of Health, Care and Social Welfare.ORCID iD: 0000-0002-5976-5193
Karolinska Institutet.
2011 (English)In: Acta Ophthalmologica, ISSN 1755-375X, E-ISSN 1755-3768, Vol. 89, no 2, 143-150 p.Article in journal (Refereed) Published
Abstract [en]

Purpose: To describe visual function and ocular manifestations in patients with onset of cholestasis during the neonatal period. Methods: Patients with neonatal cholestasis, either transitory or chronic, who came for assessment to our tertiary referral centre were included in a cross-sectional study and underwent ophthalmological examinations including fundus photography. A total of 57 patients (24 girls and 33 boys), aged 0.4-18.0 years, were included. Of these, 28 patients had biliary atresia, 11 had Alagille's syndrome, five had progressive familiar intrahepatic cholestasis and nine had different disorders such as pituitary insufficiency, alpha-1-antitrypsin deficiency, mitochondriopathy, congenital infections or cholestasis caused by unknown reasons. Results: Visual dysfunction and / or one or several ocularmanifestations occurred in 39 out of 57 patients. Major ocular malformations occurred in five patients. Out of three patients with biliary atresia, one patient had severe visual impairment caused by microphthalmia and chorioretinal coloboma, one patient with Cat Eye syndrome had bilateral uveochorioretinal coloboma and one patient had Rieger's anomaly. Two patients, both with pituitary deficiency and transient cholestasis, had severe unilateral visual impairment caused by optic nerve hypoplasia. Conclusion: The majority (68%) of the patients with cholestasis had ocular manifestations. Although the severity of ocular complications varied with diagnosis, and was most apparent among patients with biliary atresia or pituitary deficiency, no conclusion can be drawn regarding the connections between these conditions from the present study. Nevertheless, ocular assessment is important for diagnostic purposes and for early intervention in patients with cholestasis.

Place, publisher, year, edition, pages
2011. Vol. 89, no 2, 143-150 p.
National Category
Medical and Health Sciences
Research subject
Care Sciences within Health and Welfare
Identifiers
URN: urn:nbn:se:mdh:diva-17570DOI: 10.1111/j.1755-3768.2009.01671.xISI: 000287664700034Scopus ID: 2-s2.0-79952230780OAI: oai:DiVA.org:mdh-17570DiVA: diva2:587571
Available from: 2013-01-14 Created: 2013-01-14 Last updated: 2014-06-19Bibliographically approved

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