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posterior polymorphous corneal dystrophy 1 (CHED1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

posterior polymorphous corneal dystrophy 1

MONDO:0007378

Also known as:CHED1Maumenee corneal dystrophyPPCD1

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Overview

A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23.

GeneticsAutosomal dominant · OVOL2 (chr 20)

OnsetCONGENITAL, INFANTILE

Clinical Trials2 registered · 2 recruiting

ResearchLimited published research (4 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 sometimes findings: Iris atrophy, Ectopia pupillae, and Thinning of Descemet membrane. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	4	Cloudy or opaque cornea (corneal opacity), Polymorphous posterior corneal dystrophy, Abnormal corneal endothelium morphology

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.

OVOL2 encodes ovo like zinc finger 2 (275 aa). Zinc-finger transcription repressor factor. Highest expression in Minor Salivary Gland (15.6 TPM) and Testis (13.0 TPM).

Posterior polymorphous corneal dystrophy 1 is associated with mutations in the OVOL2 gene on chromosome 20.

OVOL2 is classified as a druggable target (Drug Resistance, Transcription Factor, and Tumor Suppressor categories) with score 0.4.

Diagnosis

Genetic testing for OVOL2 is available. Testing is considered confirmatory for diagnosis.

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.

2 clinical trials registered, 2 recruiting. Interventions under study include drug therapy, other interventions, gene therapy, and biologic therapy. Pipeline includes 1 PHASE1. Research is primarily sponsored by academic and government institutions.

4 publications have been identified in PubMed for posterior polymorphous corneal dystrophy 1. Research spans Case Report / Case Series (75%) and Review / Meta-Analysis (25%).

Recent Publications

Liskova P (2025). [PMID: 40079222](https://pubmed.ncbi.nlm.nih.gov/40079222/). *Clin Exp Ophthalmol*. [Review / Meta-Analysis]
Gaulier A (2024). [PMID: 38744569](https://pubmed.ncbi.nlm.nih.gov/38744569/). *J Fr Ophtalmol*. [Case Report / Case Series]
Berger T (2024). [PMID: 35926514](https://pubmed.ncbi.nlm.nih.gov/35926514/). *Klin Monbl Augenheilkd*. [Case Report / Case Series]
Rocher M (2024). [PMID: 38490938](https://pubmed.ncbi.nlm.nih.gov/38490938/). *J Fr Ophtalmol*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:122000

GARD

Genetic and Rare Diseases Info Center

GARD:18212

Questions for Your Care Team

→Are any of the 2 active clinical trials a good fit for my situation?
→Should I pursue genetic testing for OVOL2, 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 1

Overview

Clinical Presentation

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

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