Posterior polymorphous corneal dystrohy (PPMD) is a disease of the cornea which is characterized by the presence of vesicles on the posterior surface of the cornea. The endothelial cells lining the posterior surface have epithelial-like features. These cells can also cover the trabecular meshwork, leading to glaucoma in 10-15% of patients.
Posterior polymorphous corneal dystrophy. Slit lamp biomicroscopy demonstrates scallop-edged endothelial bands.
We studied a large family with PPMD and localized the disease-causing gene to the long arm of chromosome 20. The elucidation of the gene involved will lend insight into the differentiation of the endothelium of the cornea, a cell which plays a critical role in the normal function of the cornea.
Light microscopy demonstrating multiple layers of the endothelium, which normally has one layer.
