Microcystic corneal dystrophy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CORNEAL DYSTROPHY, MICROCYSTIC COGAN CORNEAL DYSTROPHY CORNEAL DYSTROPHY, ANTERIOR BASEMENT MEMBRANE CORNEAL DYSTROPHY, MAP-DOT-FINGERPRINT TYPE EBMD |
| Number of Symptoms | 4 |
| OrphanetNr: | 98956 |
| OMIM Id: |
121820
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| ICD-10: |
H18.5 |
| 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: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Superficial corneal dystrophy
-Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0001131) | Corneal dystrophy | 56 / 7739 | ||||
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(HPO:0000495) | Recurrent corneal erosions | 20 / 7739 | ||||
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(HPO:0007690) | Map-dot-fingerprint corneal dystrophy | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
First described by Cogan et al. (1964), map-dot-fingerprint dystrophy (MDFD) is a bilateral anterior corneal dystrophy characterized by grayish epithelial fingerprint lines, geographic map-like lines, and dots (or microcysts) on slit-lamp examination (Cogan et al., 1974). Findings are ... |
| Molecular genetics OMIM |
Boutboul et al. (2006) reported the analysis of 2 families with an autosomal dominant pattern of epithelial basement membrane corneal dystrophy as well as the analysis of single affected individuals. They identified 2 different point mutations in the ... |