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fibrosis of extraocular muscles, congenital, 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

fibrosis of extraocular muscles, congenital, 2

MONDO:0011181

Also known as:PHOX2A congenital fibrosis of extraocular musclescongenital fibrosis of extraocular muscles caused by mutation in PHOX2Afibrosis of extraocular muscles, congenital, type 2

Overview

Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the PHOX2A gene.

GeneticsAutosomal recessive · PHOX2A (chr 11)

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: Hypotropia, Restrictive external ophthalmoplegia, Congenital fibrosis of extraocular muscles, and Hypertropia and 4 more.

Organ System	Phenotype Count	Example Features
Eyes	3	Amblyopia, Visual impairment, Bilateral ptosis
Muscles

Genetic Landscape

PHOX2A function has not been fully characterized.

Fibrosis of extraocular muscles, congenital, 2 is associated with mutations in the PHOX2A gene on chromosome 11.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for PHOX2A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for fibrosis of extraocular muscles, congenital, 2 has been reported in the published literature.

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 fibrosis of extraocular muscles, congenital, 2.

8 publications have been identified in PubMed for fibrosis of extraocular muscles, congenital, 2. Research spans Case Report / Case Series (38%), Diagnostic / Biomarker (25%), and Review / Meta-Analysis (13%).

Recent Publications

Rashidi FS (2026). [PMID: 42222555](https://pubmed.ncbi.nlm.nih.gov/42222555/). *Basic Clin Neurosci*. [Basic Science / Preclinical]
Aufderheide K (2026). [PMID: 41870107](https://pubmed.ncbi.nlm.nih.gov/41870107/). *Int Ophthalmol Clin*. [Review / Meta-Analysis]
Jurgens JA (2025). [PMID: 40162949](https://pubmed.ncbi.nlm.nih.gov/40162949/). *Invest Ophthalmol Vis Sci*. [Diagnostic / Biomarker]
Kresentia S (2025). [PMID: 40320796](https://pubmed.ncbi.nlm.nih.gov/40320796/). *Eur J Ophthalmol*. [Case Report / Case Series]
Li YT (2025). [PMID: 39228029](https://pubmed.ncbi.nlm.nih.gov/39228029/). *J Neuroophthalmol*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:602078

GARD

Genetic and Rare Diseases Info Center

GARD:15341

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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fibrosis of extraocular muscles, congenital, 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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