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choroidal dystrophy, central areolar 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

choroidal dystrophy, central areolar 2

MONDO:0013137

Also known as:PRPH2 central areolar choroidal dystrophycentral areolar choroidal dystrophy caused by mutation in PRPH2choroidal dystrophy, central areolar type 2

Overview

Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.

GeneticsAutosomal dominant · PRPH2 (chr 6)

ResearchLimited published research (5 articles)

Clinical Presentation

Features include: Photophobia and Chorioretinal atrophy.

Organ System	Phenotype Count	Example Features
Muscles	1	Chorioretinal atrophy

Explore clinical features

Genetic Landscape

PRPH2 function has not been fully characterized.

Choroidal dystrophy, central areolar 2 is associated with mutations in the PRPH2 gene on chromosome 6.

Diagnosis

Genetic testing for PRPH2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for choroidal dystrophy, central areolar 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 choroidal dystrophy, central areolar 2.

5 publications have been identified in PubMed for choroidal dystrophy, central areolar 2. Research spans Epidemiology / Natural History (40%), Diagnostic / Biomarker (20%), and Case Report / Case Series (20%).

Recent Publications

Heath Jeffery RC (2026). [PMID: 41979252](https://pubmed.ncbi.nlm.nih.gov/41979252/). *Invest Ophthalmol Vis Sci*. [Clinical Trial Publication]
Seddon JM (2024). [PMID: 39693084](https://pubmed.ncbi.nlm.nih.gov/39693084/). *Invest Ophthalmol Vis Sci*. [Epidemiology / Natural History]
Elhusseiny AM (2024). [PMID: 39610584](https://pubmed.ncbi.nlm.nih.gov/39610584/). *Cureus*. [Case Report / Case Series]
Mulders T (2024). [PMID: 38041245](https://pubmed.ncbi.nlm.nih.gov/38041245/). *Acta Ophthalmol*. [Diagnostic / Biomarker]
Heath Jeffery RC (2024). [PMID: 38743414](https://pubmed.ncbi.nlm.nih.gov/38743414/). *Invest Ophthalmol Vis Sci*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 10:48 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613105

GARD

Genetic and Rare Diseases Info Center

GARD:15615

Questions for Your Care Team

→Should I pursue genetic testing for PRPH2, 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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choroidal dystrophy, central areolar 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team