Cystoid macular dystrophy
Synonyms: Autosomal dominant cystoid macular edema · DCMD · Familial macular edema
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa. It is associated with a poor visual prognosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cystoid macular dystrophy | Autosomal dominant cystoid macular edema · DCMD · Familial macular edema |
| fr | Dystrophie maculaire cystoïde | Oedème maculaire cystoïde autosomique dominant · Oedème maculaire familial |
| de | Makuladystrophie, zystoide | Makuladystrophie, autosomal-dominante zystoide · Makulaödem, familiäres |
| es | Distrofia macular cistoide | DCMD · DMCD · Edema macular familiar · Edema macular quístico autosómico dominante |
| it | Distrofia maculare cistoide | DCMD · Edema maculare cistoide autosomico dominante · Edema maculare familiare |
| nl | Cystoïde maculadystrofie | Autosomaal dominant cystoïd maculaoedeem · DCMD · Familiaal macula-oedeem |
| pt | Edema macular quístico autossómico dominante | DCMD · Distrofia macular quística · Edema macular familiar |
| pl | Torbielowaty obrzęk plamki | Autosomalny dominujący torbielowaty obrzęk plamki · DCMD · Rodzinny obrzęk plamki |
| cs | Cystoidní makulární dystrofie | Dominantní cystoidní makulární edém · DCMD · Familiární makulární edém |
| uk | Цистоїдна макулодистрофія | Аутосомно-домінантний цистоїдний макулярний набряк · DCMD · Сімейний макулярний набряк |
| zh | 囊性黄斑营养不良 | 常染色体显性遗传性黄斑囊样水肿 |
| tr | Kistoid maküler distrofi | DCMD · Ailesel maküla ödemi · Otozomal dominant kistoid maküla ödemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 153880 | E | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9B70 | NTBT | attributed | validated |
| MONDO | 0007935 | E | validated | |
| MONDO | 7935 | E | validated | |
| UMLS | C0024440 | E | validated | |
| MedDRA | 10058202 | 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
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 97 cases | Worldwide | Case(s) | Validated | 25267528[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25267528[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/75381
- This record as JSON: /data/d/75381.json