Multifocal pattern dystrophy simulating fundus flavimaculatus
Synonyms: Multifocal pattern dystrophy simulating Stargardt disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare, patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multifocal pattern dystrophy simulating fundus flavimaculatus | Multifocal pattern dystrophy simulating Stargardt disease |
| fr | Dystrophie tachetée simulant le fundus flavimaculatus | Dystrophie tachetée simulant la maladie Stargardt |
| de | Musterdystrophie, multifokale (vorgetäuschter Fundus flavimaculatus) | Musterdystrophie, multifokale (vorgetäuschte Stargardt-Krankheit) |
| es | Distrofia en patrón multifocal simulando el fundus flavimaculatus | Distrofia en patrón multifocal que simula la enfermedad de Stargardt · Distrofia en patrón multifocal simulando la enfermedad de Stargardt |
| it | Distrofia multifocale a pattern simulante il fondo flavimaculato | Distrofia multifocale a pattern simulante la malattia di Stargadt |
| nl | Multifocale patroondystrofie lijkend op fundus flavimaculatus | Multifocale patroondystrofie lijkend op ziekte van Stargardt |
| pt | Distrofia de padrão multifocal simulando fundus flavimaculatus | |
| pl | Wieloogniskowa dystrofia wzorzasta symulująca dno żółtoplamiste | = en |
| cs | Mřížkovaná dystrofie makuly napodobující fundus flavimaculatus | Mřížkovaná dystrofie makuly napodobující Stargardtovu nemoc |
| uk | Мультифокальна дистрофія очного дна, що симулює fundus flavimaculatus | Мультифокальна патернальна дистрофія, що імітує хворобу Штаргардта |
| zh | 多灶性图形样眼底黄斑样营养不良 | 类Stargardt病的多灶型营养不良 |
| tr | Fundus flavimakulatusu taklit eden multifokal patern distrofisi | Stargardt hastalığını taklit eden multifokal desen distrofi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9B70 | NTBT | index | validated |
| MONDO | 0020382 | E | validated | |
| UMLS | C4509881 | 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:63454Pattern dystrophy
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRPH2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9942 | ENSG00000112619 | 179605 | 6p21.1 | peripherin 2 | 17504850[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99003
- This record as JSON: /data/d/99003.json