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corneal dystrophy, Fuchs endothelial, 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

corneal dystrophy, Fuchs endothelial, 1

MONDO:0007637

Also known as:COL8A2 Fuchs' endothelial dystrophyFuchs' endothelial dystrophy caused by mutation in COL8A2corneal dystrophy, Fuchs endothelial, type 1

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Overview

Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the COL8A2 gene.

GeneticsAutosomal dominant · COL8A2 (chr 1)

Clinical Trials4 registered · 3 recruiting

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: Corneal degeneration, Corneal stromal edema, Clouding of the cornea (corneal dystrophy), and Corneal guttata and 1 more.

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

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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).

Corneal dystrophy, Fuchs endothelial, 1 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 corneal dystrophy, Fuchs endothelial, 1 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.

4 clinical trials registered, 3 recruiting. Interventions under study include drug therapy, biologic therapy, other interventions, and gene therapy. Pipeline includes 1 PHASE3, 1 PHASE2, 1 PHASE1. Research is sponsored by a mix of industry and academic institutions.

29 publications have been identified in PubMed for corneal dystrophy, Fuchs endothelial, 1. Research spans Basic Science / Preclinical (41%), Review / Meta-Analysis (17%), and Epidemiology / Natural History (10%).

Research Type	Count	% of Total
Laboratory research	12

Data assembled from 6 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:136800

GARD

Genetic and Rare Diseases Info Center

GARD:18216

Questions for Your Care Team

→Are any of the 4 active clinical trials a good fit for my situation?
→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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corneal dystrophy, Fuchs endothelial, 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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