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corneal dystrophy, Fuchs endothelial, 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

corneal dystrophy, Fuchs endothelial, 4

MONDO:0013204

Also known as:Fuchs' endothelial dystrophy caused by mutation in SLC4A11SLC4A11 Fuchs' endothelial dystrophycorneal dystrophy, Fuchs endothelial, type 4

Overview

Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the SLC4A11 gene.

GeneticsAutosomal dominant · SLC4A11 (chr 20)

OnsetLATE

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 always present findings: Corneal guttata. 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	3	Clouding of the cornea (corneal dystrophy), Visual impairment, Corneal guttata

Age of onset: later in life.

Explore clinical features

Genetic Landscape

SLC4A11 function has not been fully characterized.

Corneal dystrophy, Fuchs endothelial, 4 is associated with mutations in the SLC4A11 gene on chromosome 20.

Diagnosis

Genetic testing for SLC4A11 is available. Testing is considered confirmatory for diagnosis.

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, 4.

21 publications have been identified in PubMed for corneal dystrophy, Fuchs endothelial, 4. Research spans Basic Science / Preclinical (52%), Review / Meta-Analysis (19%), and Clinical Trial Publication (14%).

Research Type	Count	% of Total
Laboratory research	11	52%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:04 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613268

GARD

Genetic and Rare Diseases Info Center

GARD:18219

Questions for Your Care Team

→Should I pursue genetic testing for SLC4A11, 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, 4

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

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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