Distinct Clinical Phenotype of Corneal Dystrophy Predicts the p.(Leu450Trp) Substitution in COL8A2.

Abstract excerpt

PURPOSE: The p.(Leu450Trp) substitution in Collagen, Type VIII, Alpha 2 (COL8A2) is associated with an early-onset corneal dystrophy. Here we identify distinct anterior corneal and keratorefractive changes associated with this disease and replicate its distinguishing endothelial characteristics in a new family. METHODS: We reviewed clinical data from a large family associated with the p.(Leu450Trp) COL8A2...

Topics

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

• Share to Child
• Share to Corneal Dystrophies, Hereditary
• Share to Microscopy, Confocal