Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

corneal dystrophy, Fuchs endothelial, 6 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

corneal dystrophy, Fuchs endothelial, 6

MONDO:0013206

Also known as:Fuchs' endothelial dystrophy caused by mutation in ZEB1ZEB1 Fuchs' endothelial dystrophycorneal dystrophy, Fuchs endothelial, type 6

Overview

Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the ZEB1 gene.

GeneticsZEB1 (chr 10)

ResearchLimited published research (8 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: Abnormal Descemet membrane morphology, Corneal stromal edema, Keratitis, and Clouding of the cornea (corneal dystrophy) and 2 more.

Organ System	Phenotype Count	Example Features
Eyes	4	Corneal stromal edema, Keratitis, Clouding of the cornea (corneal dystrophy)

Explore clinical features

Genetic Landscape

ZEB1 function has not been fully characterized.

Corneal dystrophy, Fuchs endothelial, 6 is associated with mutations in the ZEB1 gene on chromosome 10.

Diagnosis

Genetic testing for ZEB1 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.

No clinical trials have been registered for corneal dystrophy, Fuchs endothelial, 6.

9 publications have been identified in PubMed for corneal dystrophy, Fuchs endothelial, 6. Research spans Basic Science / Preclinical (63%), Review / Meta-Analysis (25%), and Epidemiology / Natural History (13%).

Recent Publications

Gurnani B (2026). [PMID: 31424832](https://pubmed.ncbi.nlm.nih.gov/31424832/). *Unknown Journal*. [Review / Meta-Analysis]
Gurumurthy S (2026). [PMID: 41581037](https://pubmed.ncbi.nlm.nih.gov/41581037/). *Indian J Ophthalmol*. [Basic Science / Preclinical]
Oka I (2025). [PMID: 41533935](https://pubmed.ncbi.nlm.nih.gov/41533935/). *Invest Ophthalmol Vis Sci*. [Basic Science / Preclinical]
Liskova P (2025). [PMID: 40079222](https://pubmed.ncbi.nlm.nih.gov/40079222/). *Clin Exp Ophthalmol*. [Review / Meta-Analysis]
Elhardt C (2025). [PMID: 40537778](https://pubmed.ncbi.nlm.nih.gov/40537778/). *BMC Ophthalmol*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613270

GARD

Genetic and Rare Diseases Info Center

GARD:18221

Questions for Your Care Team

→Should I pursue genetic testing for ZEB1, 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?

← Back to All Diseases

corneal dystrophy, Fuchs endothelial, 6

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