Martinique crinkled retinal pigment epitheliopathy
Synonyms: MCRPE
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare, genetic retinal disease characterized by characteristic "dried-out soil" fundus pattern due to diffuse deep white lines in the macula, to the level of the retinal pigment epithelium, which is slightly elevated and rippled. Macular exudation may be associated, and Bruch's membrane may be affected too. Occasionally, peripheral nummular pigmentary changes may be observed, associated with blindness. The lesions enlarge with time, with a preferential macular extension and confluence. Complications may include polypoidal choroidal vasculopathy, choroidal neovascularization or atrophic fibrous macular scarring that can lead to reduced visual acuity over time.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Martinique crinkled retinal pigment epitheliopathy | MCRPE |
| fr | Epithéliopathie pigmentée rétinienne froissée de Martinique | |
| de | Martinique zerknitterte retinale Pigmentepitheliopathie | = en |
| es | Epiteliopatía pigmentaria retiniana arrugada de Martinica | = en |
| it | Epiteliopatia increspata del pigmento retinico della Martinica | |
| nl | Kreukelige retinale pigmentepitheliopathie van Martinique | = en |
| pt | Epiteliopatia retiniana enrugada da Martinica | |
| pl | Pomarszczona epiteliopatia barwnikowa siatkówki z Martyniki | = en |
| cs | Zvrásněná pigmentová epitelopatie sítnice ostrova Martinik | = en |
| uk | Зморшкувата пігментна епітеліопатія сітківки Мартиніки | = en |
| zh | 马提尼克褶皱性视网膜色素上皮病变 | = en |
| tr | Martinik buruşuk retina pigment epiteliyopatisi | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617111 | E | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9B70 | NTBT | attributed | validated |
| MONDO | 0014920 | E | validated | |
| UMLS | C4310713 | 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 (2):
- ORPHA:717336Rare genetic isolated progressive predominantly macular disorder
rare genetic diseases - ORPHA:716432Rare isolated progressive predominantly macular disorder
rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MAPKAPK3 | Disease-causing germline mutation(s) in | Assessed | HGNC:6888 | ENSG00000114738 | 602130 | 3p21.2 | MAPK activated protein kinase 3 | 26744326[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 cases | Worldwide | Case(s) | Validated | 23370609[PMID]_26744326[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23370609[PMID]_26744326[PMID] |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/466718
- This record as JSON: /data/d/466718.json