Epithelial recurrent erosion dystrophy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CORNEAL EROSIONS, RECURRING HEREDITARY ERED Dystrophia Smolandiensis Dystrophia Helsinglandica Recurrent hereditary corneal erosions |
| Number of Symptoms | 2 |
| OrphanetNr: | 293381 |
| OMIM Id: |
122400
|
| ICD-10: |
H18.5 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Superficial corneal dystrophy
-Rare eye disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0200020) | Corneal erosion | 12 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Franceschetti (1928) described a family in which 6 successive generations were affected. The disorder became manifest between 4 and 6 years of age. Recurring ulcerations are also seen in macular and lattice types of classical dystrophy. See also ... |