ORPHA:75377
Central areolar choroidal dystrophy
Synonyms: Areolar atrophy of the macula · CACD · Central areolar choroidal sclerosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Central areolar choroidal dystrophy | Areolar atrophy of the macula · CACD · Central areolar choroidal sclerosis |
| fr | Dystrophie centrale aréolaire de la choroïde | Atrophie aréolaire maculaire · Sclérose centrale aréolaire de la choroïde |
| de | Aderhautdystrophie, areoläre zentrale | Arteriosklerose der Aderhaut · CACD · Choroidea-Dystrophie, zentrale areoläre |
| es | Distrofia coroidea areolar central | |
| it | Distrofia coroidale centrale areolare | Atrofia areolare maculare · CACD · Sclerosi coroidale centrale areolare |
| nl | Centrale areolaire choroïdale dystrofie | Areolaire atrofie van macula · CACD · Centrale areolaire choroïdale sclerose |
| pt | Distrofia da coróide central areolar | CACD · Esclerose da coróide |
| pl | Centralna otoczkowa dystrofia błony naczyniowej | CACD · Centralne otoczkowe stwardnienie błony naczyniowej · Otoczkowa atrofia plamki |
| cs | Centrální areolární choroidální dystrofie | Areolární atrofie makuly · CACD · Centrální areolární choroideální skleróza |
| uk | Центральна ареолярна хоріоїдальна дистрофія | Ареолярна атрофія макули · CACD · Центральний ареолярний хоріосклероз |
| zh | 中心性晕轮状脉络膜营养不良 | 中央晕轮状脉络膜硬化 |
| tr | Santral areolar koroidal distrofi | CACD · Makulanın areolar atrofisi · Santral areolar koroidal skleroz |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 215500 | E | validated | |
| OMIM | 613105 | BTNT | validated | |
| OMIM | 613144 | BTNT | validated | |
| ICD-10 | H31.2 | NTBT | inclusion | validated |
| ICD-11 | 9B61 | NTBT | index | validated |
| MONDO | 0008982 | E | validated | |
| MeSH | C535358 | E | validated | |
| UMLS | C1536451 | E | validated | |
| GARD | 10049 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GUCA1A | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:4678 | ENSG00000048545 | 600364 | 6p21.1 | guanylate cyclase activator 1A | 28125083[PMID] |
| GUCY2D | Disease-causing germline mutation(s) in | Assessed | HGNC:4689 | ENSG00000132518 | 600179 | 17p13.1 | guanylate cyclase 2D, retinal | 22695961[PMID] |
| PRPH2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9942 | ENSG00000112619 | 179605 | 6p21.1 | peripherin 2 | 14557183[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3.33 / 100 000 | France | Value and class | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | — | Europe | 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.
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HPO phenotypes
17 annotations · validated 2019-06-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0031152 | Full-thickness macular hole | |
| HP:0030631 | Hyperautofluorescent macular lesion | |
| Frequent (79-30%) | ||
| HP:0030615 | Foveal photoreceptor outer segment loss on macular OCT | |
| HP:0007894 | Hypopigmentation of the fundus | |
| HP:0007401 | Macular atrophy | |
| HP:0007663 | Reduced visual acuity | |
| HP:0007924 | Slow decrease in visual acuity | |
| HP:0000505 | Visual impairment | |
| HP:0000572 | Visual loss | |
| Occasional (29-5%) | ||
| HP:0007980 | Absent retinal pigment epithelium | |
| HP:0030491 | Choriocapillaris atrophy | |
| HP:0000533 | Chorioretinal atrophy | |
| HP:0011510 | Drusen | |
| HP:0030629 | Perifoveal ring of hyperautofluorescence | |
| HP:0007814 | Retinal pigment epithelial mottling | |
| Very rare (<4-1%) | ||
| HP:0007641 | Dyschromatopsia | |
| HP:0000662 | Nyctalopia | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 28125083[PMID]_22003107[PMID]_19243827[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/75377
- This record as JSON: /data/d/75377.json