Persistent placoid maculopathy
diseaseOn this page
Summary
Persistent placoid maculopathy (MONDO:0019973) is a disease. A subtype of retinal disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 8
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 5 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
8 HPO clinical features (Orphanet curated; top 8 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0007663 | Reduced visual acuity | Obligate (100%) |
| HP:0011506 | Choroidal neovascularization | Obligate (100%) |
| HP:0001103 | Abnormal macular morphology | Very frequent (80-99%) |
| HP:0000646 | Amblyopia | Occasional (5-29%) |
| HP:0007750 | Hypoplasia of the fovea | Occasional (5-29%) |
| HP:0007814 | Retinal pigment epithelial mottling | Occasional (5-29%) |
| HP:0010822 | Scintillating scotoma | Occasional (5-29%) |
| HP:0012508 | Metamorphopsia | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | persistent placoid maculopathy |
| Mondo ID | MONDO:0019973 |
| Orphanet | 97341 |
| ICD-11 | 1143591468 |
| SNOMED CT | 719297006 |
| UMLS | C4304823 |
| MedGen | 930492 |
| GARD | 0019369 |
| Is cancer (heuristic) | no |
Disease family
This is a subtype of retinal disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › nervous system disorder › retinal disorder › persistent placoid maculopathy
Related subtypes (31): retinal ischemia, rubeosis iridis, retinal vascular disorder, retinitis, retinal nerve fiber layer disorder, retinal edema, retinal degeneration, night blindness, hypertensive retinopathy, macular holes, retinal detachment, iris hypoplasia with glaucoma, angioid streaks, bradyopsia, myopic macular degeneration, osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome, congenital retinal arteriovenous communication, Eales disease, central serous chorioretinopathy, achromatopsia, cancer-associated retinopathy, inherited vitreoretinopathy, retina neoplasm, retinal ciliopathy, melanoma associated retinopathy, isolated foveal hypoplasia, acute macular neuroretinopathy, autoimmune retinopathy, proliferative vitreoretinopathy, isolated chorioretinal dystrophy, torpedo maculopathy
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.