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brittle cornea syndrome 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

brittle cornea syndrome 2

MONDO:0013605

Also known as:PRDM5 brittle cornea syndromebrittle cornea syndrome caused by mutation in PRDM5brittle cornea syndrome type 2

Overview

Any brittle cornea syndrome in which the cause of the disease is a mutation in the PRDM5 gene.

GeneticsAutosomal recessive · PRDM5 (chr 4)

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: Hearing loss (hearing impairment), Joint hypermobility, Blue sclerae, and Decreased corneal thickness; and very common findings: Myopia. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	4	Keratoconus, Corneal perforation, Decreased corneal thickness

Genetic Landscape

PRDM5 function has not been fully characterized.

Brittle cornea syndrome 2 is associated with mutations in the PRDM5 gene on chromosome 4.

Diagnosis

Genetic testing for PRDM5 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 1 very common feature, 5 common 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 brittle cornea syndrome 2.

8 publications have been identified in PubMed for brittle cornea syndrome 2. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (25%).

Recent Publications

Doğan Arı AB (2026). [PMID: 41937885](https://pubmed.ncbi.nlm.nih.gov/41937885/). *Mol Syndromol*. [Basic Science / Preclinical]
Zhu D (2026). [PMID: 41953647](https://pubmed.ncbi.nlm.nih.gov/41953647/). *Mol Vis*. [Review / Meta-Analysis]
Zeppieri M (2025). [PMID: 40647596](https://pubmed.ncbi.nlm.nih.gov/40647596/). *Diagnostics (Basel)*. [Case Report / Case Series]
Moore P (2024). [PMID: 38892036](https://pubmed.ncbi.nlm.nih.gov/38892036/). *Int J Mol Sci*. [Review / Meta-Analysis]
Krishnamurthy R (2024). [PMID: 39278530](https://pubmed.ncbi.nlm.nih.gov/39278530/). *J AAPOS*. [Case Report / Case Series]
Geng X (2024). [PMID: 38961930](https://pubmed.ncbi.nlm.nih.gov/38961930/). *Heliyon*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614170

GARD

Genetic and Rare Diseases Info Center

GARD:15764

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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brittle cornea syndrome 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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