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corneal dystrophy, Meesmann, 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

corneal dystrophy, Meesmann, 1

MONDO:0020791

Also known as:meesmann corneal dystrophy 1Corneal Dystrophy, Juvenile Epithelial, of MeesmannCorneal Dystrophy, Meesmann Epithelial

Overview

GeneticsAutosomal dominant · KRT12 (chr 17)

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: Epiphora, Clouding of the cornea (corneal dystrophy), Photophobia, and Reduced visual acuity and 1 more.

Organ System	Phenotype Count	Example Features
Eyes	2	Clouding of the cornea (corneal dystrophy), Punctate opacification of the cornea

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

KRT12 encodes keratin 12 (494 aa). Involved in corneal epithelium organization, integrity and corneal keratin expression

Corneal dystrophy, Meesmann, 1 is associated with mutations in the KRT12 gene on chromosome 17.

KRT12 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for KRT12 is available. Testing is considered confirmatory for diagnosis.

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, Meesmann, 1.

10 publications have been identified in PubMed for corneal dystrophy, Meesmann, 1. Research spans Case Report / Case Series (50%), Other (20%), and Review / Meta-Analysis (10%).

Research Type	Count	% of Total
Patient case studies	5	50%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:07 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:122100

Questions for Your Care Team

→Should I pursue genetic testing for KRT12, 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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corneal dystrophy, Meesmann, 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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