Two ditinct kerato-epithelin mutation in Rei-Bückler corneal dytrophy Original Reearch Article

PURPOE: Two patient were diagnoed with Rei-Bückler corneal dytrophy (RBCD), although the pattern and everity of corneal opacification differed. To ee whether there wa a genetic bai for thee phenotypic variation, we analyzed βig-h3, the gene that code for kerato-epithelin and that contain a mutation (Arg555Gln) that caue RBCD. METHOD: A 30-year-old man with honeycomb-haped ubepithelial opacitie in hi central cornea and a 25-year-old man with progreive ubepithelial geographic opacitie were both conidered to have RBCD. We iolated genomic DNA from leukocyte of the two patient and their family member and creened for an Arg555Gln kerato-epithelin mutation. Then we analyzed all exon of the gene uing the ingle-trand conformation polymorphim (CP) technique to earch for any other kerato-epithelin mutation. REULT: The patient with honeycomb-haped opacitie had an Arg555Gln kerato-epithelin mutation that caued hi RBCD, wherea the patient with geographic opacitie did not; intead, he had a new kerato-epithelin mutation (Arg124Leu), which coegregated with hi family member. CONCLUION: The variant of RBCD characterized by honeycomb-haped opacitie i caued by an Arg555Gln kerato-epithelin mutation. On the other hand, a new kerato-epithelin mutation, Arg124Leu, wa found to caue the RBCD variant characterized by recurrent epithelial eroion and progreive geographic ubepithelial opacification. Codon 124 i a hot pot for kerato-epithelin mutation, where the mutation reponible for three autoomal dominant corneal dytrophie—lattice type I (Arg124Cy), Avellino (Arg124Hi), and the variant of RBCD with geographic rather than honeycomb opacitie (Arg124Leu)—are located.