posterior polymorphous corneal dystrophy
Findings
No curated finding names posterior polymorphous corneal dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.
Definition from the Mondo Disease Ontology (MONDO:0020364), read 2026-09-29. CC BY 4.0.
Features
20 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.
- Abnormal Descemet membrane morphologyHPOHP:0011490
- Very frequent (80% to 99% of cases)
- Reduced number of corneal endothelial cellsHPOHP:0011491
- Very frequent (80% to 99% of cases)
- AmblyopiaHPOHP:0000646
- Occasional (5% to 29% of cases)
- Anterior synechiae of the anterior chamberHPOHP:0011483
- Occasional (5% to 29% of cases)
- AstigmatismHPOHP:0000483
- Occasional (5% to 29% of cases)
- Corneal stromal edemaHPOHP:0012040
- Occasional (5% to 29% of cases)
- Increased corneal curvatureHPOHP:0100692
- Occasional (5% to 29% of cases)
- Reduced visual acuityHPOHP:0007663
- Occasional (5% to 29% of cases)
- Uveal ectropionHPOHP:0025358
- Occasional (5% to 29% of cases)
- Very low visual acuityHPOHP:0032122
- Occasional (5% to 29% of cases)
- Blurred visionHPOHP:0000622
- Very rare (1% to 4% of cases)
- Chorioretinal atrophyHPOHP:0000533
- Very rare (1% to 4% of cases)
Show the remaining 8
- Corneal opacityHPOHP:0007957
- Very rare (1% to 4% of cases)
- Ectopia pupillaeHPOHP:0009918
- Very rare (1% to 4% of cases)
- EsotropiaHPOHP:0000565
- Very rare (1% to 4% of cases)
- GlaucomaHPOHP:0000501
- Very rare (1% to 4% of cases)
- Lacrimation abnormalityHPOHP:0000632
- Very rare (1% to 4% of cases)
- Ocular hypertensionHPOHP:0007906
- Very rare (1% to 4% 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.
- GRHL2HGNC:2799
- Strong · G2P · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
- COL8A2HGNC:2216
- Supportive · Orphanet · Autosomal dominant · 2021
- HGNC:12723HGNC:12723
- Supportive · Orphanet · Autosomal dominant · 2021
- OVOL2HGNC:15804
- Supportive · Orphanet · Autosomal dominant · 2021
- ZEB1HGNC:11642
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: posterior polymorphous corneal dystrophy
- Also called
- corneal dystrophy, posterior polymorphousposterior polymorphous dystrophyPPCDSchlichting dystrophy