Mutations in collagen VIII, a major component of Descemet’s membrane secreted by endothelial cells, have been linked to the early-onset FED.
PPCD type 2 is linked to the mutations in COL8A2, and PPCD type 3 mutations in ZEB1 gene, but the underlying genetic disturbance in PPCD type 1 is unknown.
COL8A2 |