Congenital primary aphakia

Congenital primary aphakia (CPA) is characterized 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.

Also known as: anterior segment dysgenesis 2, multiple subtypes, aphakia, congenital primary, congenital absence of lens, congenital aphakia, ASGD2, CPA, anterior segment dysgenesis 2

19 clinical trials for this condition and its sub-types, 17 tagged with Congenital primary aphakia itself.