SLC4A11 function has not been fully characterized.

Congenital hereditary endothelial dystrophy of cornea is associated with mutations in the SLC4A11 gene on chromosome 20.

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

No approved treatments are currently available for congenital hereditary endothelial dystrophy of cornea. An additional 1 compound holds orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for congenital hereditary endothelial dystrophy of cornea, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for congenital hereditary endothelial dystrophy of cornea. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Phenotype severity distribution: 4 very common features, 2 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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.

1 publication has been identified in PubMed for congenital hereditary endothelial dystrophy of cornea. Research spans Review / Meta-Analysis (100%).

Recent Publications

• Kovaleva PA (2025). [PMID: 40563515](https://pubmed.ncbi.nlm.nih.gov/40563515/). *Biomolecules*. [Review / Meta-Analysis]