Lisch epithelial corneal dystrophy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
BAND-SHAPED AND WHORLED MICROCYSTIC CORNEAL EPITHELIAL DYSTROPHY LISCH EPITHELIAL CORNEAL DYSTROPHY LECD Band-shaped and whorled microcystic dystrophy of the corneal epithelium |
| Number of Symptoms | 2 |
| OrphanetNr: | 98955 |
| OMIM Id: |
300778
|
| 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: |
X-linked recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
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:0001423) | X-linked dominant inheritance | 69 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Lisch et al. (1992) described 5 family members and 3 unrelated patients (4 males, 4 females), aged 23 to 71 years, with bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns. Retroillumination showed ... |