Association of keratoconus and Avellino corneal dystrophy

Keratoconus is an idiopathic, progressive, non-inflammatory ectasia of the axial cornea. Its association of other systemic disorders or ocular disease have been reported, but its specific origin remains unknown. Recently, Munier and associates detected that four types of autosomal dominant corneal dystrophy result from mutation in the human transforming growth factor β induced gene (βigH3), the product of which has shown to be the protein keratoepithelin (R555W for granular corneal dystrophy, R555Q mutation for Reis-Buckler’s corneal dystrophy, R124C mutation for lattice corneal dystrophy type I, and R124H mutation for Avellino corneal dystrophy).1 Molecular genetic analysis of various corneal dystrophies, which had previously presented an insuperable challenge to clinical diagnosis, now clearly demonstrates the distinct phenotypes.2 We report a rare case of bilateral keratoconus in association with Avellino corneal …