Cystoid macular dystrophy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CYSTOID MACULAR DYSTROPHY MACULAR DYSTROPHY, DOMINANT CYSTOID MDDC DCMD CYMD Familial macular edema Autosomal dominant cystoid macular edema |
| Number of Symptoms | 10 |
| OrphanetNr: | 75381 |
| OMIM Id: |
153880
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| ICD-10: |
H35.5 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 6 families [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Unclassified primitive or secondary maculopathy
-Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0007754) | Macular dystrophy | 26 / 7739 | ||||
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(HPO:0011505) | Cystoid macular edema | 8 / 7739 | ||||
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(HPO:0007947) | Pericentral retinitis pigmentosa | 1 / 7739 | ||||
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(HPO:0000486) | Strabismus | 576 / 7739 | ||||
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(HPO:0000540) | Hypermetropia | 99 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Normal electroretinogram | 4 / 7739 | ||||
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(OMIM) | Diminished visual acuity | 2 / 7739 | ||||
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(OMIM) | Moderate to high hyperopia | 1 / 7739 | ||||
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(OMIM) | Whitish punctate vitreous deposits | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Deutman et al. (1976) described autosomal dominant inheritance of cystoid macular edema due to leaking perimacular capillaries. Other striking features were retinal capillary leakage all over the posterior pole of the eye, whitish punctate deposits in the vitreous, ... |