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corneal dystrophy Fuchs endothelial type
Pathology:
- ocular disorder caused by loss of endothelium of the central cornea
- focal wart-like guttata that arise from Descemet's membrane & develop in the central cornea
- epithelial blisters
- Descemet's membrane is thickened by abnormal collagenous deposition
Genetics:
- associated with defects in COL8A2 (type 1) [1]
- associated with defects in ZEB1 (type 6) [2]
Clinical manifestations:
- visual impairment
- eye pain
General
corneal disease (keratopathy)
genetic disease of the eye
Database Correlations
OMIM correlations
References
- OMIM :accession 136800
- OMIM :accession 613270