Peters anomaly
Findings
No curated finding names Peters anomaly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.
Definition from the Mondo Disease Ontology (MONDO:0011414), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
9 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.
- Peters anomalyHPOHP:0000659
- Obligate (100% of cases)
- Anterior synechiae of the anterior chamberHPOHP:0011483
- Very frequent (80% to 99% of cases)
- Central opacification of the corneaHPOHP:0011493
- Very frequent (80% to 99% of cases)
- Opacification of the corneal stromaHPOHP:0007759
- Very frequent (80% to 99% of cases)
- Subcapsular cataractHPOHP:0000523
- Very frequent (80% to 99% of cases)
- Thinning of Descemet membraneHPOHP:0031159
- Very frequent (80% to 99% of cases)
Genes
5 genes
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.
- PAX6HGNC:8620
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
- CYP1B1HGNC:2597
- Supportive · Orphanet · Autosomal dominant · 2021
- FOXC1HGNC:3800
- Supportive · Orphanet · Autosomal dominant · 2021
- FOXE3HGNC:3808
- Supportive · Orphanet · Autosomal dominant · 2021
- PITX2HGNC:9005
- · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
- Narrower terms (2)
Other names
3 names
Resolves to: Peters anomaly
- Also called
- anterior segment dysgenesis 5, multiple subtypesPeters anomaly (disease)Peters congenital glaucoma