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posterior amorphous corneal dystrophy (PACD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

posterior amorphous corneal dystrophy

MONDO:0013027

Also known as:PACDposterior amorphous stromal dystrophychromosome 12Q21.33 deletion syndrome

Overview

Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision.

GeneticsAutosomal dominant

ResearchLimited published research (7 articles)

Clinical Presentation

Features include sometimes findings: Ectopia pupillae and Iris coloboma. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	1	Clouding of the cornea (corneal dystrophy)

Explore clinical features

Prognosis

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 posterior amorphous corneal dystrophy.

7 publications have been identified in PubMed for posterior amorphous corneal dystrophy. Research spans Case Report / Case Series (43%), Other (14%), and Review / Meta-Analysis (14%).

Recent Publications

Zengin S (2026). [PMID: 41726249](https://pubmed.ncbi.nlm.nih.gov/41726249/). *Case Rep Pathol*. [Case Report / Case Series]
Rajarajan M (2026). [PMID: 42215066](https://pubmed.ncbi.nlm.nih.gov/42215066/). *BMJ Case Rep*. [Case Report / Case Series]
Okudan S (2025). [PMID: 39857066](https://pubmed.ncbi.nlm.nih.gov/39857066/). *Diagnostics (Basel)*. [Basic Science / Preclinical]
Touirssa O (2025). [PMID: 40874967](https://pubmed.ncbi.nlm.nih.gov/40874967/). *J Epidemiol Glob Health*. [Epidemiology / Natural History]
Liskova P (2025). [PMID: 40079222](https://pubmed.ncbi.nlm.nih.gov/40079222/). *Clin Exp Ophthalmol*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:09 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612868

Orphanet

European rare disease database

Orphanet:98971

GARD

Genetic and Rare Diseases Info Center

GARD:16880

Questions for Your Care Team

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posterior amorphous corneal dystrophy

Overview

Clinical Presentation

Explore clinical features

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team