Congenital primary aphakia

Definition

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 — per MONDO

Also identified as

• DOID 0080607 per MONDO
• DOID 11367 per MONDO
• ICD10CM Q12.3 per MONDO
• ICD9 743.35 per MONDO
• MESH C537786 per MONDO
• NCIT C35172 per MONDO
• OMIM 610256 per MONDO
• Orphanet 83461 per MONDO
• SCTID 35387008 per MONDO
• UMLS C1853230 per MONDO

Affected Organs