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posterior polymorphous corneal dystrophy 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

posterior polymorphous corneal dystrophy 2

MONDO:0012199

Also known as:COL8A2 posterior polymorphous corneal dystrophyPPCD2corneal dystrophy, posterior polymorphous 2

Overview

Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the COL8A2 gene.

GeneticsAutosomal dominant · COL8A2 (chr 1)

ResearchLimited published research (9 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Cloudy or opaque cornea (corneal opacity) and Clouding of the cornea (corneal dystrophy).

Organ System	Phenotype Count	Example Features
Eyes	2	Cloudy or opaque cornea (corneal opacity), Clouding of the cornea (corneal dystrophy)

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

COL8A2 encodes collagen type VIII alpha 2 chain (703 aa). Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also a component of the endothelia of blood vessels. Highest expression in Artery Aorta (77.2 TPM) and Artery Tibial (56.8 TPM).

Posterior polymorphous corneal dystrophy 2 is associated with mutations in the COL8A2 gene on chromosome 1.

COL8A2 is classified as a druggable target (Druggable Genome category) with score 4.4.

Diagnosis

Genetic testing for COL8A2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for posterior polymorphous corneal dystrophy 2 has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for posterior polymorphous corneal dystrophy 2.

11 publications have been identified in PubMed for posterior polymorphous corneal dystrophy 2. Research spans Case Report / Case Series (33%), Review / Meta-Analysis (22%), and Diagnostic / Biomarker (11%).

Recent Publications

Flockerzi E (2026). [PMID: 41248687](https://pubmed.ncbi.nlm.nih.gov/41248687/). *Klin Monbl Augenheilkd*. [Review / Meta-Analysis]
Balal S (2026). [PMID: 41569999](https://pubmed.ncbi.nlm.nih.gov/41569999/). *Eur J Ophthalmol*. [Clinical Trial Publication]
Yuan Y (2026). [PMID: 41840915](https://pubmed.ncbi.nlm.nih.gov/41840915/). *Genesis*. [Basic Science / Preclinical]
Qiu J (2026). [PMID: 42147942](https://pubmed.ncbi.nlm.nih.gov/42147942/). *Quant Imaging Med Surg*. [Diagnostic / Biomarker]
Liskova P (2025). [PMID: 40079222](https://pubmed.ncbi.nlm.nih.gov/40079222/). *Clin Exp Ophthalmol*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609140

GARD

Genetic and Rare Diseases Info Center

GARD:18213

Questions for Your Care Team

→Should I pursue genetic testing for COL8A2, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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posterior polymorphous corneal dystrophy 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team