Persistent placoid maculopathy
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adult, Elderly
- Status
- active
Persistent placoid maculopathy is characterised 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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Persistent placoid maculopathy | |
| fr | Maculopathie placoïde persistante | |
| de | Makulopathie, persistierende plakoide | |
| es | Maculopatía placoidea persistente | |
| it | Maculopatia placoide persistente | |
| nl | Persisterende placoïde maculopathie | |
| pt | Maculopatia placóide persistente | |
| pl | Przewlekła makulopatia plakoidalna | |
| cs | Perzistentní plakoidní makulopatie | |
| uk | Персистуюча плакоїдна макулопатія | |
| zh | 持续性鳞状黄斑病变 | |
| tr | Kalıcı plakoid makülopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | H35.3 | NTBT | attributed | validated |
| ICD-11 | 9B78.3Y | NTBT | index | validated |
| MONDO | 0019973 | E | validated | |
| UMLS | C4304823 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:716432Rare isolated progressive predominantly macular disorder
rare ophthalmic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 17471331[PMID]_[EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
8 annotations · validated 2016-10-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0011506 | Choroidal neovascularization | |
| HP:0007663 | Reduced visual acuity | |
| Very frequent (99-80%) | ||
| HP:0001103 | Abnormal macular morphology | |
| Occasional (29-5%) | ||
| HP:0000646 | Amblyopia | |
| HP:0007750 | Hypoplasia of the fovea | |
| HP:0012508 | Metamorphopsia | |
| HP:0007814 | Retinal pigment epithelial mottling | |
| HP:0010822 | Scintillating scotoma | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 17471331[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/97341
- This record as JSON: /data/d/97341.json