congenital primary aphakia
ASGD2
related
CPA
related
anterior segment dysgenesis 2, multiple subtypes
exact
aphakia, congenital primary
exact
congenital absence of lens
exact
congenital aphakia
exact
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.
MONDO:0001176
lens disorder
is_a
MONDO:0019503
anterior segment dysgenesis
is_a