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