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cornea plana 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cornea plana 2

MONDO:0009014

Also known as:KERA cornea planacornea plana caused by mutation in KERAcornea plana type 2

Overview

Any cornea plana in which the cause of the disease is a mutation in the KERA gene.

GeneticsAutosomal recessive · KERA (chr 12)

ResearchLimited published research (8 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 always present findings: Cloudy or opaque cornea (corneal opacity), Microphthalmia, Reduced visual acuity, and Flat cornea and others. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	4	Decreased corneal thickness, Cloudy or opaque cornea (corneal opacity), Corneal arcus

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.

KERA encodes keratocan (352 aa). May be important in developing and maintaining corneal transparency and for the structure of the stromal matrix Highest expression in Breast Mammary Tissue (0.3 TPM) and Colon Sigmoid (0.2 TPM).

Cornea plana 2 is associated with mutations in the KERA gene on chromosome 12.

The KERA protein participates in Keratan sulfate/keratin metabolism pathway.

KERA is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

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

Prognosis

Phenotype severity distribution: 5 always present features.

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 cornea plana 2.

8 publications have been identified in PubMed for cornea plana 2. Research spans Basic Science / Preclinical (38%), Case Report / Case Series (25%), and Epidemiology / Natural History (25%).

Recent Publications

Yu Q (2026). [PMID: 41540031](https://pubmed.ncbi.nlm.nih.gov/41540031/). *NPJ Regen Med*. [Basic Science / Preclinical]
Abdalla Elsayed MEA (2026). [PMID: 41550454](https://pubmed.ncbi.nlm.nih.gov/41550454/). *Am J Ophthalmol Case Rep*. [Case Report / Case Series]
Zhu D (2026). [PMID: 41953647](https://pubmed.ncbi.nlm.nih.gov/41953647/). *Mol Vis*. [Basic Science / Preclinical]
Tolman N (2026). [PMID: 41556506](https://pubmed.ncbi.nlm.nih.gov/41556506/). *Elife*. [Basic Science / Preclinical]
Shan K (2026). [PMID: 41738891](https://pubmed.ncbi.nlm.nih.gov/41738891/). *Cornea*. [Clinical Trial Publication]
Calpe E (2025). [PMID: 39259299](https://pubmed.ncbi.nlm.nih.gov/39259299/). *Graefes Arch Clin Exp Ophthalmol*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:217300

GARD

Genetic and Rare Diseases Info Center

GARD:18050

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?

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cornea plana 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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