title: Occurrence and pattern of ocular disease in children with cholestatic disorders.
abstract: OBJECTIVE
  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 ocular manifestations 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden. kristina.fahnehjelm@ki.se
authors.forename: Kristina Teär
authors.initials: KT
authors.lastname: Fahnehjelm
authors.forename: Björn
authors.initials: B
authors.lastname: Fischler
authors.forename: Lene
authors.initials: L
authors.lastname: Martin
authors.forename: Antal
authors.initials: A
authors.lastname: Nemeth
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002780:Cholestasis, Intrahepatic / Q000150:complications* / Q000503:physiopathology; D003430:Cross-Sectional Studies; D005124:Eye Abnormalities / Q000150:complications / Q000503:physiopathology; D005128:Eye Diseases / Q000150:complications* / Q000503:physiopathology; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D014786:Vision Disorders / Q000150:complications / Q000503:physiopathology; D014792:Visual Acuity / Q000502:physiology; D058609:Visual Field Tests; D014794:Visual Fields / Q000502:physiology