CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 3

General Information (adopted from Orphanet):

Synonyms, Signs: CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, WITH OR WITHOUT DRUSEN
CACD3
Number of Symptoms 7
OrphanetNr:
OMIM Id: 613144
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0011510) Drusen 6/21 [HPO:skoehler] 19696794 IBIS 6 / 7739
2
(HPO:0000533) Chorioretinal atrophy 24 / 7739
3
(OMIM) Progressive loss of central vision 2 / 7739
4
(OMIM) Well-demarcated atrophy of pigment epithelium 2 / 7739
5
(OMIM) Well-demarcated atrophy of choriocapillaris 2 / 7739
6
(OMIM) Well-demarcated atrophy of central retina 2 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ouechtati et al. (2009) described a large consanguineous Tunisian family in which central areolar choroidal dystrophy (CACD) segregated as an autosomal dominant trait over 3 generations. There were 21 affected family members, of whom 6 also had drusen. ...