Severe corneal dystrophy phenotype caused by homozygous R124H keratoepithelin mutations.

Abstract

The severe phenotype was a pathologic variant of granular corneal dystrophy (GCD). All five patients had homozygous R124H keratoepithelin mutations. The R124H keratoepithelin mutation is the same mutation recently reported to be responsible for Avellino corneal dystrophy. The homozygous R124H keratoepithelin mutations are the cause of the severe variant of GCD characterized by juvenile-onset and confluent superficial opacity.