Occult macular dystrophy
Synonyms: Miyake disease · OCMD · OMD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Occult macular dystrophy | Miyake disease · OCMD · OMD |
| fr | Dystrophie maculaire occulte | Maladie de Miyake · OCMD · OMD |
| de | Makuladystrophie, okkulte | Miyake-Krankheit · OCMD · OMD |
| es | Distrofia macular oculta | Enfermedad de Miyake · OCMD · OMD |
| it | Distrofia maculare occulta | Malattia di Mayake · OCMD · OMD |
| nl | Occulte maculadystrofie | OCMD · OMD · Ziekte van Miyake |
| pt | Distrofia macular oculta | Doença Miyake · OCMD · OMD |
| pl | Utajona dystrofia plamki żółtej | OCMD · OMD |
| cs | Okultní makulární dystrofie | OCMD · OMD |
| uk | Прихована макулодистрофія | OCMD · OMD |
| zh | 隐匿性黄斑营养不良 | OCMD · OMD |
| tr | Gizli maküler distrofi | OMD · OCMD |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613587 | E | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9B75.Y | NTBT | index | validated |
| MONDO | 0013316 | E | validated | |
| UMLS | C3150833 | 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 (3):
- ORPHA:717324Rare genetic isolated progressive generalized retinal disorder
rare genetic diseases; rare ophthalmic disorders - 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 |
|---|---|---|---|---|---|---|---|---|
| RP1L1 | Disease-causing germline mutation(s) in | Assessed | HGNC:15946 | ENSG00000183638 | 608581 | 8p23.1 | RP1 like 1 | 20826268[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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/247834
- This record as JSON: /data/d/247834.json