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persistent placoid maculopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

persistent placoid maculopathy

MONDO:0019973

Overview

Persistent placoid maculopathy is characterized by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision.

ResearchLimited published research (5 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: Reduced visual acuity and Choroidal neovascularization; and very common findings: Abnormal central area of the retina (abnormal macular morphology). 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	3	Abnormal central area of the retina (abnormal macular morphology), Amblyopia, Retinal pigment epithelial mottling

Prognosis

Phenotype severity distribution: 2 always present features, 1 very common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 persistent placoid maculopathy.

5 publications have been identified in PubMed for persistent placoid maculopathy. Research spans Case Report / Case Series (60%), Review / Meta-Analysis (20%), and Epidemiology / Natural History (20%).

Recent Publications

Bianco L (2026). [PMID: 41861897](https://pubmed.ncbi.nlm.nih.gov/41861897/). *Am J Ophthalmol*. [Review / Meta-Analysis]
Anjou M (2025). [PMID: 40329229](https://pubmed.ncbi.nlm.nih.gov/40329229/). *BMC Ophthalmol*. [Case Report / Case Series]
Gallo B (2025). [PMID: 40497319](https://pubmed.ncbi.nlm.nih.gov/40497319/). *Ocul Immunol Inflamm*. [Epidemiology / Natural History]
Seddigh S (2025). [PMID: 39554631](https://pubmed.ncbi.nlm.nih.gov/39554631/). *J Vitreoretin Dis*. [Case Report / Case Series]
Cheng JY (2024). [PMID: 39027974](https://pubmed.ncbi.nlm.nih.gov/39027974/). *Retina*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 4:28 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:97341

GARD

Genetic and Rare Diseases Info Center

GARD:19369

Questions for Your Care Team

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persistent placoid maculopathy

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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