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corneal dystrophy, Fuchs endothelial, 1
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the COL8A2 gene.
Uniprot Description A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition.