Corneal Dystrophy

Gene: OVOL2

Green List (high evidence)

Posterior polymorphous corneal dystrophy (PPCD) is a rare disorder involving metaplasia and overgrowth of corneal endothelial cells. In patients with PPCD, these cells manifest in an epithelial morphology and gene expression pattern, produce an aberrant basement membrane, and, sometimes, spread over the iris and nearby structures in a way that increases the risk for glaucoma. Symptoms can range from very aggressive to asymptomatic and nonprogressive, even within the same family. The age of diagnosis is, most often, in the second or third decade of life.

Note c.-370T-C variant in the promoter region is a common founder variant.

Created: 5 Jan 2021, 8:19 p.m. | Last Modified: 5 Jan 2021, 8:19 p.m.

Panel Version: 0.48

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Corneal dystrophy, posterior polymorphous, 1, MIM# 122000

Publications

• 26749309