posterior polymorphous corneal dystrophy 1

Rare Disease

MONDO:0007378

Also Known As

CHED1Ched1Maumenee corneal dystrophyPPCD1Ppcd1corneal dystrophy, posterior polymorphous, type 1corneal endothelial dystrophy 1, autosomal dominantposterior polymorphous corneal dystrophy type 1corneal dystrophy, POSTERIOR polymorphous, 1corneal dystrophy, hereditary polymorphous posteriorcorneal endothelial dystrophy 1, autosomal dominant, formerlyposterior polymorphous corneal dystrophy

Definition

A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23.