Choroidal dystrophy central areolar
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Description
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.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
80%-99% of people have these symptoms.
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| Abnormality of dental color |
| Ventriculomegaly |
| Full-thickness macular hole |
| Hyperautofluorescent macular lesion |
30%-79% of people have these symptoms.
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| Chin with horizontal crease |
| Large vessel vasculitis |
| Reduced visual acuity |
| Foveal photoreceptor outer segment loss on macular OCT |
| Macular atrophy |
| Slow decrease in visual acuity |
5%-29% of people have these symptoms.
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| Retinal pigment epithelial mottling |
| Absent retinal pigment epithelium |
| Choriocapillaris atrophy |
| Perifoveal ring of hyperautofluorescence |
| Drusen |
1%-4% of people have these symptoms.
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| Dyschromatopsia |
| Urinary mulberry cells |
| Nyctalopia |
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
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