Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

corneal dystrophy-perceptive deafness syndrome (CDPD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

corneal dystrophy-perceptive deafness syndrome

MONDO:0009015

Also known as:CDPDHarboyan syndromecorneal dystrophy with progressive deafness

Overview

Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss.

GeneticsAutosomal recessive · SLC4A11 (chr 20)

ResearchLimited published research (9 articles)

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 very common findings: Inner ear hearing loss (sensorineural hearing impairment), Clouding of the cornea (corneal dystrophy), Visual impairment, and Cloudy or opaque cornea (corneal opacity); and common findings: Nystagmus. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	5	Opacification of the corneal stroma, Clouding of the cornea (corneal dystrophy), Visual impairment

Genetic Landscape

SLC4A11 function has not been fully characterized.

Corneal dystrophy-perceptive deafness syndrome 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: 4 very common features, 1 common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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-perceptive deafness syndrome.

11 publications have been identified in PubMed for corneal dystrophy-perceptive deafness syndrome. Research spans Review / Meta-Analysis (56%), Case Report / Case Series (33%), and Gene Therapy / Novel Therapeutics (11%).

Recent Publications

Kirwin DA (2026). [PMID: 41854963](https://pubmed.ncbi.nlm.nih.gov/41854963/). *J Assoc Res Otolaryngol*. [Review / Meta-Analysis]
Li H (2026). [PMID: 41897284](https://pubmed.ncbi.nlm.nih.gov/41897284/). *Biomolecules*. [Review / Meta-Analysis]
Kovaleva PA (2025). [PMID: 40563515](https://pubmed.ncbi.nlm.nih.gov/40563515/). *Biomolecules*. [Review / Meta-Analysis]
Gagliardi M (2025). [PMID: 39927073](https://pubmed.ncbi.nlm.nih.gov/39927073/). *American journal of ophthalmology case reports*. [Case Report / Case Series]
Arnaud L (2025). [PMID: 39455380](https://pubmed.ncbi.nlm.nih.gov/39455380/). *La Revue de medecine interne*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:217400

Orphanet

European rare disease database

Orphanet:1490

GARD

Genetic and Rare Diseases Info Center

GARD:1529

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

corneal dystrophy-perceptive deafness syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features