A novel KERA mutation associated with autosomal recessive cornea plana.

Abstract excerpt

PURPOSE: To report a novel KERA mutation associated with autosomal recessive cornea plana in members of a nuclear family and to describe their ophthalmic phenotypes. METHODS: Ophthalmic examination, biometry, and direct sequencing of KERA. RESULTS: Five of the 6 siblings were affected and had small flat corneas, variable anterior chamber depths, and short axial lengths. The remaining brother and the 2 parents had...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Siblings
• Share to Child, Preschool
• Share to Codon, Nonsense