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congenital hereditary endothelial dystrophy type I (CHED1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital hereditary endothelial dystrophy type I

MONDO:0020365

Also known as:CHED1CHEDIautosomal dominant CHED

Overview

Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision.

TreatmentsNo approved treatments · 1 in pipeline

ResearchLimited published research (5 articles)

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

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

Orphan Drug Designations

While no drugs are FDA-approved specifically for congenital hereditary endothelial dystrophy type I, 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 type I. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name	Sponsor

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 congenital hereditary endothelial dystrophy type I.

6 publications have been identified in PubMed for congenital hereditary endothelial dystrophy type I. Research spans Other (20%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (20%).

Recent Publications

Zhang W (2026). [PMID: 41896991](https://pubmed.ncbi.nlm.nih.gov/41896991/). *Biology of sex differences*. [Epidemiology / Natural History]
Zhang BN (2026). [PMID: 41850243](https://pubmed.ncbi.nlm.nih.gov/41850243/). *Cell reports. Medicine*. [Gene Therapy / Novel Therapeutics]
Liskova P (2025). [PMID: 40079222](https://pubmed.ncbi.nlm.nih.gov/40079222/). *Clinical & experimental ophthalmology*. [Review / Meta-Analysis]
Peshkar-Kulkarni S (2025). [PMID: 39834031](https://pubmed.ncbi.nlm.nih.gov/39834031/). *Ophthalmic genetics*. [Basic Science / Preclinical]
Riuzzi F (2024). [PMID: 38651523](https://pubmed.ncbi.nlm.nih.gov/38651523/). *European journal of translational myology*. [Other]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:121700

Orphanet

European rare disease database

Orphanet:98975

GARD

Genetic and Rare Diseases Info Center

GARD:19610

Questions for Your Care Team

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Kisho

congenital hereditary endothelial dystrophy type I

Overview

Treatment

Orphan Drug Designations

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Trials

Latest News & Developments

Congenital Hereditary Endothelial Dystrophy: A Review of the Molecular Pathogenesis, Genetic Basis, and Emerging Treatments.

congenital hereditary endothelial dystrophy type I

Overview

Treatment

Orphan Drug Designations

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Trials

Latest News & Developments

Congenital Hereditary Endothelial Dystrophy: A Review of the Molecular Pathogenesis, Genetic Basis, and Emerging Treatments.