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Congenital primary aphakia

Synonym(s) -
Prevalence 1-5 / 10 000
Inheritance Autosomal recessive
Age of onset Infancy
  • Q12.3
  • C1853230
  • C537786
  • 10002947


Disease definition

Congenital primary aphakia (CPA) is characterised by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents.

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