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corneal dystrophy, Fuchs endothelial, 8 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

corneal dystrophy, Fuchs endothelial, 8

MONDO:0014228

Also known as:AGBL1 Fuchs' endothelial dystrophyFuchs' endothelial dystrophy caused by mutation in AGBL1corneal dystrophy, Fuchs endothelial, type 8

Overview

Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the AGBL1 gene.

GeneticsAutosomal dominant · AGBL1 (chr 15)

Clinical Presentation

Features include always present findings: Corneal guttata. 2 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	2	Clouding of the cornea (corneal dystrophy), Corneal guttata

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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.

AGBL1 encodes AGBL carboxypeptidase 1 (1,112 aa). Metallocarboxypeptidase that mediates deglutamylation of tubulin and non-tubulin target proteins. Highest expression in Muscle Skeletal (3.4 TPM) and Brain Nucleus accumbens basal ganglia (1.4 TPM).

Corneal dystrophy, Fuchs endothelial, 8 is associated with mutations in the AGBL1 gene on chromosome 15.

AGBL1 is classified as a druggable target (Druggable Genome, Enzyme, and Protease categories) with score 0.0.

Diagnosis

Genetic testing for AGBL1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for corneal dystrophy, Fuchs endothelial, 8 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature.

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, 8.

96 publications have been identified in PubMed for corneal dystrophy, Fuchs endothelial, 8. Research spans Clinical Trial Publication (44%), Epidemiology / Natural History (20%), and Basic Science / Preclinical (15%).

Research Type	Count	% of Total
Clinical study results	42	44%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615523

GARD

Genetic and Rare Diseases Info Center

GARD:18223

Questions for Your Care Team

→Should I pursue genetic testing for AGBL1, 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, 8

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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