title: Visually impaired children with posterior ocular malformations: pre- and neonatal data and visual functions.
abstract: OBJECTIVE
  To analyse pre- and neonatal data and ocular findings in children with visual impairment caused by posterior ocular malformations.
  
  
  METHODS
  Medical records were scrutinized, dried blood spot cards were analysed for virus DNA and ophthalmological assessments were performed in 28 children with optic nerve hypoplasia (ONH) and 10 with optic/chorio-retinal coloboma.
  
  
  RESULTS
  Prenatal exposure to possible teratogens was documented in 5/28, herpes simplex virus type 1 DNA was identified in the dried blood spot cards of 1/26 children and neonatal hypoglycaemia in 12/28 children with ONH. The time delay from ocular to endocrinological diagnosis and treatment was 3 years. Children with ONH and severe visual impairment had endocrinopathy more often (11/13) than ONH children with better visual functions (5/15). Prenatal exposure to teratogens or neonatal hypoglycaemia was not identified in any of the children with coloboma.
  
  
  CONCLUSIONS
  Neonatal hypoglycaemia was common in children with ONH. Severe visual impairment predicted endocrinopathy. Analysis of dried blood spot cards could serve as an additional diagnostic tool in children with ocular malformations.
authors.affiliation: Department of Paediatric Ophthalmology, B-54 Karolinska Institute, Huddinge University Hospital, S-141 86 Stockholm, Sweden. kristina.fahnehjelm@klinvet.ki.se
authors.forename: Kristina Teär
authors.initials: KT
authors.lastname: Fahnehjelm
authors.forename: Lena
authors.initials: L
authors.lastname: Jacobson
authors.forename: Ann
authors.initials: A
authors.lastname: Hellström
authors.forename: Ilona
authors.initials: I
authors.lastname: Lewensohn-Fuchs
authors.forename: Jan
authors.initials: J
authors.lastname: Ygge
mesh_terms: D002648:Child; D002675:Child, Preschool; D002829:Choroid / Q000002:abnormalities*; D003103:Coloboma / Q000150:complications*; D005260:Female; D006801:Humans; D007003:Hypoglycemia / Q000150:complications; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D015835:Ocular Motility Disorders / Q000209:etiology; D009900:Optic Nerve / Q000002:abnormalities*; D012029:Refraction, Ocular; D012160:Retina / Q000002:abnormalities*; D014786:Vision Disorders / Q000209:etiology* / Q000503:physiopathology; D014792:Visual Acuity / Q000502:physiology*; D014794:Visual Fields; D019987:Persons with Visual Disabilities / Q000706:statistics & numerical data*