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choroidal dystrophy, central areolar, 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

choroidal dystrophy, central areolar, 1

MONDO:0024539

Also known as:GUCY2D central areolar choroidal dystrophycentral areolar choroidal dystrophy caused by mutation in GUCY2Dchoroidal dystrophy, central areolar 1

Overview

Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.

GeneticsAutosomal dominant · GUCY2D (chr 17)

ResearchLimited published research (3 articles)

Clinical Presentation

Features include: Pigmentary retinopathy, Choriocapillaris atrophy, and Chorioretinal atrophy.

Organ System	Phenotype Count	Example Features
Muscles	2	Choriocapillaris atrophy, Chorioretinal atrophy
Eyes	1	Pigmentary retinopathy

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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.

GUCY2D encodes guanylate cyclase 2D, retinal (1,103 aa). Catalyzes the synthesis of cyclic GMP (cGMP) in rods and cones of photoreceptors. Plays an essential role in phototransduction, by mediating cGMP replenishment. Highest expression in Testis (2.4 TPM) and Esophagus Mucosa (0.7 TPM).

Choroidal dystrophy, central areolar, 1 is associated with mutations in the GUCY2D gene on chromosome 17.

The GUCY2D protein participates in GUCYs converts GTP to cGMP pathway.

GUCY2D is classified as a druggable target (Druggable Genome, Enzyme, Kinase, and Transporter categories) with score 17.4.

Diagnosis

Genetic testing for GUCY2D 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 choroidal dystrophy, central areolar, 1.

3 publications have been identified in PubMed for choroidal dystrophy, central areolar, 1. Research spans Other (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (33%).

Recent Publications

Guareschi BLV (2025). [PMID: 41012804](https://pubmed.ncbi.nlm.nih.gov/41012804/). *Vet Sci*. [Other]
De Geer K (2025). [PMID: 39643591](https://pubmed.ncbi.nlm.nih.gov/39643591/). *Acta Ophthalmol*. [Basic Science / Preclinical]
Cheloni R (2024). [PMID: 37898718](https://pubmed.ncbi.nlm.nih.gov/37898718/). *Eye (London, England)*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:215500

Questions for Your Care Team

→Should I pursue genetic testing for GUCY2D, 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, 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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