title: Anophthalmos, microphthalmos, and Coloboma in the United kingdom: clinical features, results of investigations, and early management.
abstract: OBJECTIVE
  To describe the clinical features of children with anophthalmos, microphthalmos, and typical coloboma (AMC).
  
  
  METHODS
  Descriptive, observational, cross-sectional study of the United Kingdom.
  
  
  METHODS
  A total of 135 children with AMC newly diagnosed over an 18-month period beginning in October 2006.
  
  
  METHODS
  Cases were identified using active surveillance through an established ophthalmic surveillance system. Eligible cases were followed up 6 months after first notification.
  
  
  METHODS
  Phenotypic characteristics, both ocular and systemic, clinical investigations, causes, and interventions.
  
  
  RESULTS
  A total of 210 eyes (of 135 children) were affected by AMC, of which 153 had isolated coloboma or coloboma with microphthalmos. The most common colobomatous anomaly was a chorioretinal defect present in 109 eyes (71.2%). Some 44% of children were bilaterally visually impaired. Systemic abnormalities were present in 59.7% of children, with craniofacial anomalies being the most common. Children with bilateral disease had a 2.7 times higher odds (95% confidence interval, 1.3-5.5, P = 0.006) of having systemic involvement than unilaterally affected children. Neurologic imaging was the most frequent investigation (58.5%) performed. Less than one third (30.3%) of the children with microphthalmos had ocular axial lengths measured. Eight children had confirmed genetic mutations. Approximately half (49.2%) of the children required ocular intervention.
  
  
  CONCLUSIONS
  Colobomatous defects were the most common phenotype within this spectrum of anomalies in the United Kingdom. The high frequency of posterior segment colobomatous involvement means that a dilated fundal examination should be made in all cases. The significant visual and systemic morbidity in affected children underlines the importance of a multidisciplinary approach to management.
authors: International Centre for Eye Health, London School of Hygiene and Tropical Medicine, London, United Kingdom. Shaheen.shah@lshtm.ac.uk
authors: Shaheen P
authors: SP
authors: Shah
authors: Amy E
authors: AE
authors: Taylor
authors: Jane C
authors: JC
authors: Sowden
authors: Nicky
authors: N
authors: Ragge
authors: Isabelle
authors: I
authors: Russell-Eggitt
authors: Jugnoo S
authors: JS
authors: Rahi
authors: Clare E
authors: CE
authors: Gilbert
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis; D000853:Anophthalmos / Q000175:diagnosis* / Q000453:epidemiology / Q000628:therapy; D002675:Child, Preschool; D003103:Coloboma / Q000175:diagnosis* / Q000453:epidemiology / Q000628:therapy; D003430:Cross-Sectional Studies; D005006:Ethnicity; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008850:Microphthalmos / Q000175:diagnosis* / Q000453:epidemiology / Q000628:therapy; D010641:Phenotype; D006113:United Kingdom / Q000453:epidemiology; D014792:Visual Acuity / Q000502:physiology