Choroidal Dystrophy, Central Areolar, 1 (CACD1)

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Disease Ontology 12 DOID:980 OMIM® 57 215500 OMIM Phenotypic Series 57 PS215500 KEGG 36 H01768 ICD9CM 34 363.4 MeSH 44 C535358 D012164 SNOMED-CT 67 47638000 ICD10 32 H31.1 H31.10

MESH via Orphanet 45 C535358 ICD10 via Orphanet 33 H31.2 UMLS via Orphanet 71 C1536451 Orphanet 58 ORPHA75377 MedGen 41 C0344297 C1536451 C4551884 SNOMED-CT via HPO 68 13164000 18695008 238828009 263681008 65194006 more UMLS 70 C0339427 C0344297 C0730291 C1536451 more

KEGG : ³⁶ Central areolar choroidal dystrophy (CACD) is a hereditary retinal disorder that principally affects the macula, often resulting in atrophy of the retinal pigment epithelium and choriocapillaris in the center of the macula. Dysfunction of macular photoreceptors usually leads to a decrease in visual acuity, generally occurring between the ages of 30 and 60 years. Autosomal-recessive cases that is caused by mutations in GUCY2D have been reported. However, in most cases, CACD is inherited as an autosomal-dominant trait. Autosomal-dominant CACD is genetically heterogeneous but mutations in the peripherin/RDS gene (PRPH2) seem to be the most common cause. The PRPH2 encodes a photoreceptor-specific glycoprotein. It is believed to play an important role in the assembly, orientation, and physical stability of photoreceptor outer segment disks.

MalaCards based summary : Choroidal Dystrophy, Central Areolar, 1, also known as choroidal sclerosis, is related to choroideremia and bietti crystalline corneoretinal dystrophy. An important gene associated with Choroidal Dystrophy, Central Areolar, 1 is GUCY2D (Guanylate Cyclase 2D, Retinal), and among its related pathways/superpathways are Phototransduction and Metabolism of fat-soluble vitamins. Affiliated tissues include eye and retina, and related phenotypes are hyperautofluorescent macular lesion and full-thickness macular hole

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 75377 Definition Central areolar choroidal dystrophy (CACD) is 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.

OMIM® : ⁵⁷ Central areolar choroidal dystrophy (CACD) is a hereditary retinal disorder that principally affects the macula, often resulting in a well-defined area of atrophy of the retinal pigment epithelium (RPE) and choriocapillaris in the center of the macula. Dysfunction of macular photoreceptors usually leads to a decrease in visual acuity, generally occurring between the ages of 30 and 60 years (summary by Boon et al., 2009). (215500) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : ⁷² Choroidal dystrophy, central areolar, 1: A form of central areolar choroidal dystrophy, a retinal disease that affects the macula and results in a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris. CACD1 inheritance is autosomal recessive.

Clinical features from OMIM®:

215500 (Updated 20-May-2021)

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