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Congenital primary aphakia
MONDO:0012456Congenital 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
25 clinical trials for this condition and its sub-types.
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