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ring dermoid of cornea - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ring dermoid of cornea

MONDO:0008387

Also known as:Ring dermoid syndromeRDCbilateral, annular limbal dermoids with corneal and conjunctival extension

Overview

Ring dermoid of cornea is characterized by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition.

GeneticsAutosomal dominant · PITX2 (chr 4)

ResearchLimited published research (1 article)

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: Conjunctival dermolipoma, Abnormal cornea morphology, Amblyopia, and Abnormal conjunctiva morphology and 2 more.

Organ System	Phenotype Count	Example Features
Eyes	6	Conjunctival dermolipoma, Abnormal cornea morphology, Amblyopia

Genetic Landscape

PITX2 function has not been fully characterized.

Ring dermoid of cornea is associated with mutations in the PITX2 gene on chromosome 4.

Diagnosis

Genetic testing for PITX2 is available. Testing is considered confirmatory for diagnosis.

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 ring dermoid of cornea.

1 publication has been identified in PubMed for ring dermoid of cornea. Research spans Basic Science / Preclinical (100%).

Recent Publications

Kock KH (2024). [PMID: 38600112](https://pubmed.ncbi.nlm.nih.gov/38600112/). *Nature communications*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 12:31 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:180550

Orphanet

European rare disease database

Orphanet:91481

GARD

Genetic and Rare Diseases Info Center

GARD:9696

Questions for Your Care Team

→Should I pursue genetic testing for PITX2, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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ring dermoid of cornea

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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