posterior polymorphous corneal dystrophy 1
Findings
No curated finding names posterior polymorphous corneal dystrophy 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23.
Definition from the Mondo Disease Ontology (MONDO:0007378), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
11 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.
- Thinning of Descemet membraneHPOHP:0031159
- Occasional (5% to 29% of cases)
- Abnormal corneal endothelium morphologyHPOHP:0011488
- Abnormal Descemet membrane morphologyHPOHP:0011490
- Anterior synechiae of the anterior chamberHPOHP:0011483
- Band keratopathyHPOHP:0000585
- Corneal opacityHPOHP:0007957
- Infantile onset
- EpiphoraHPOHP:0009926
- Congenital onset
- GlaucomaHPOHP:0000501
Genes
2 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.
- OVOL2HGNC:15804
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2018
- HGNC:12723HGNC:12723
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
Other names
4 names
Resolves to: posterior polymorphous corneal dystrophy 1
- Also called
- corneal dystrophy, posterior polymorphous, type 1Maumenee corneal dystrophyposterior polymorphous corneal dystrophy type 1PPCD1