Disease ID | Source | Name | Description |
136800 | OMIM | Corneal dystrophy, Fuchs endothelial, 1 (FECD1) | 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. The disease is caused by variants affecting the gene represented in this entry. |
609140 | OMIM | Corneal dystrophy, posterior polymorphous, 2 (PPCD2) | A rare mild subtype of posterior corneal dystrophy characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. Affected patient typically are asymptomatic. The disease is caused by variants affecting the gene represented in this entry. |