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congenital microcoria - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital microcoria

MONDO:0007989

Also known as:congenital miosisMcorchromosome 13Q32 deletion syndrome

Find Clinical TrialsTrials

Overview

Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma.

GeneticsAutosomal dominant

OnsetCONGENITAL

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (6 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 sometimes findings: Glaucoma; and rarely findings: Ocular hypertension. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	2	Ocular hypertension, Glaucoma
Heart and blood vessels

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

6 publications have been identified in PubMed for congenital microcoria. Research spans Case Report / Case Series (83%) and Basic Science / Preclinical (17%).

Recent Publications

Gao JF (2026). [PMID: 40921432](https://pubmed.ncbi.nlm.nih.gov/40921432/). *Clin Genet*. [Case Report / Case Series]
Arteaga Henríquez C (2025). [PMID: 39642989](https://pubmed.ncbi.nlm.nih.gov/39642989/). *Arch Soc Esp Oftalmol (Engl Ed)*. [Case Report / Case Series]
Merino P (2025). [PMID: 40419187](https://pubmed.ncbi.nlm.nih.gov/40419187/). *Arch Soc Esp Oftalmol (Engl Ed)*. [Case Report / Case Series]
Choudhary DS (2025). [PMID: 40858344](https://pubmed.ncbi.nlm.nih.gov/40858344/). *BMJ Case Rep*. [Case Report / Case Series]
Ma Z (2024). [PMID: 38877448](https://pubmed.ncbi.nlm.nih.gov/38877448/). *BMC Ophthalmol*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 2:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:156600

Orphanet

European rare disease database

Orphanet:566

GARD

Genetic and Rare Diseases Info Center

GARD:3635

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
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→Is there a patient registry I should consider joining?

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congenital microcoria

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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