Corneal Endothelial Findings in a Czech Patient with Compound Heterozygous Mutations in KERA

Abstract

We describe, for the first time, a proband with cornea plana who has compound heterozygous mutations in KERA. In addition to typical cornea plana features we have also documented corneal endothelial abnormalities in our patient.

Our study therefore supports the previously suggested hypothesis that endothelial changes may be part of the cornea plana phenotype.

Keywords

• cornea plana
• KERA