title: Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark.
abstract: This study aims to quantify the occurrence of the congenital eye malformations anophthalmia (AO), microphthalmia (MO) and coloboma among liveborn infants in Denmark, and to estimate the rate of chromosomal abnormalities in this group of patients.
  
  
  
  A cohort of patients born in 1995-2012 with diagnoses of MO/AO or coloboma was identified from the Danish National Patient Registry (DNPR), and their ocular and extra-ocular diagnoses were reviewed. In order to assess the occurrence of chromosomal abnormalities in the cohort, the data were cross-referenced with the Danish Cytogenetic Central Registry (DCCR).
  
  
  
  We identified 415 patients with MO/AO/coloboma in the DNPR. The total number of live births from 1995-2012 was 1,174,299, and the average birth prevalence of MO/AO/coloboma was 3.6/10,000 live births and of MO/AO was 1.2/10,000 live births. Extra-ocular abnormalities were observed in 32.1% of MO/AO cases and 21.7% of coloboma cases. Chromosome analysis was performed in 36.1% of the cohort, and 14.7% of cases had an abnormal karyotype. In 8.7% of the cohort, a chromosome microarray analysis was performed, and in 44.4% of cases, a possibly pathogenic copy number variation was observed.
  
  
  
  The birth prevalence of MO/AO/coloboma in Denmark has been steady at 3.6/10,000 live births during the last 17 years. The rate of syndromic cases was lower compared to other studies. A relatively high rate of pathogenic chromosomal aberrations was observed, suggesting an important role for cytogenetic analysis in this group of patients.
authors.affiliation: a Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics , Copenhagen University Hospital , Rigshospitalet , Glostrup , Denmark.
authors.forename: Laura
authors.initials: L
authors.lastname: Roos
authors.affiliation: b Eye Clinic, Kennedy Center , Copenhagen University Hospital , Rigshospitalet , Glostrup , Denmark.
authors.forename: Hanne
authors.initials: H
authors.lastname: Jensen
authors.affiliation: a Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics , Copenhagen University Hospital , Rigshospitalet , Glostrup , Denmark.
authors.forename: Karen
authors.initials: K
authors.lastname: Grønskov
authors.affiliation: c Institute of Regional Health Research, University of Southern Denmark , Odense , Denmark.
authors.forename: René
authors.initials: R
authors.lastname: Holst
authors.affiliation: a Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics , Copenhagen University Hospital , Rigshospitalet , Glostrup , Denmark.
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Tümer
mesh_terms: D000853:Anophthalmos / Q000453:epidemiology* / Q000235:genetics; D002869:Chromosome Aberrations / Q000706:statistics & numerical data; D015331:Cohort Studies; D003103:Coloboma / Q000453:epidemiology* / Q000235:genetics; D056915:DNA Copy Number Variations; D003718:Denmark / Q000453:epidemiology; D005260:Female; D006801:Humans; D007223:Infant; D050498:Live Birth / Q000453:epidemiology*; D016015:Logistic Models; D008297:Male; D008850:Microphthalmos / Q000453:epidemiology* / Q000235:genetics; D015995:Prevalence
keywords: Anophthalmia; chromosome aberration; coloboma; epidemiology; microphthalmia; ocular malformation