CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2

General Information (adopted from Orphanet):

Synonyms, Signs: MACULAR DYSTROPHY, PROGRESSIVE
CACD2
Number of Symptoms 7
OrphanetNr:
OMIM Id: 613105
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT

Symptom Information: Sort by abundance 

1
(HPO:0000533) Chorioretinal atrophy 24 / 7739
2
(HPO:0000613) Photophobia 158 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
(OMIM) Well-demarcated atrophy of pigment epithelium 2 / 7739
5
(OMIM) Well-demarcated atrophy of central retina 2 / 7739
6
(OMIM) Well-demarcated atrophy of choriocapillaris 2 / 7739
7
(OMIM) Progressive loss of central vision 2 / 7739

Associated genes:

PRPH2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Central areolar choroidal dystrophy (CACD) is a hereditary disorder of the macula leading to a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris (Hoyng et al., 1996).
Clinical Description OMIM Sandvig (1955) described 13 cases of central areolar choroidal degeneration segregating in an autosomal dominant fashion over 4 generations of a family.

Wells et al. (1993) studied 3 families with macular dystrophy affecting predominantly the central retina, ...

Genotype-Phenotype Correlations OMIM In 18 patients from 4 families with the R172W mutation in the PRPH2 gene, Anand et al. (2009) plotted the total area of geographic atrophy as a function of age and collated visual acuity data from these patients with ...
Molecular genetics OMIM In 3 families with macular dystrophy involving the central retina, pigment epithelium, and choriocapillaris, Wells et al. (1993) screened the PRPH2 gene (179605) and identified 2 heterozygous missense mutations that segregated with disease in each family, respectively (R172Q, 179605.0006; ...