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)
• associated with defects in ZEB1 (type 6)

Clinical manifestations

• visual impairment
• eye pain

More general terms

• corneal disease (keratopathy)
• genetic disease of the eye

Database

• OMIM: https://mirror.omim.org/entry/136800
• OMIM: https://mirror.omim.org/entry/613270