congenital primary aphakia
Findings
No curated finding names congenital primary aphakia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0012456), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Childhood onset
HPO, annotations 2026-09-02
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CataractHPOHP:0000518
- 10 of 10 reported patients
- Reduced visual acuityHPOHP:0007663
- 8 of 8 reported patients
- Corneal opacityHPOHP:0007957
- 7 of 8 reported patients
- Aplasia/Hypoplasia affecting the anterior segment of the eyeHPOHP:0008062
- Very frequent (80% to 99% of cases)
- Congenital aphakiaHPO · MondoHP:0007707
- Very frequent (80% to 99% of cases)
- Developmental glaucoma
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FOXE3HGNC:3808
- Definitive · G2P · Autosomal recessive · 2018
- Definitive · G2P · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Semidominant · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: congenital primary aphakia
- Also called
- anterior segment dysgenesis 2, multiple subtypesaphakia, congenital primarycongenital absence of lenscongenital aphakia