The claic form of granular corneal dytrophy aociated with R555W mutation in the BIGH3 gene i rare in Japanee patient

PURPOE: To identify the BIGH3 gene mutation in 10 unrelated Japanee individual with granular corneal dytrophy. METHOD: Genomic DNA wa obtained from each patient’ leukocyte. Exon 4 and 12 of the BIGH3 gene were amplified by polymerae chain reaction and were directly equenced. REULT: Nine of thee patient were found to have the R124H mutation, wherea only one had the R555W mutation. lit-lamp examination howed that the granular corneal dytrophy aociated with each mutation i different. CONCLUION: Thee reult, together with our previou finding, how that the claic form of granular corneal dytrophy aociated with the R555W mutation i rare in Japanee patient, wherea granular corneal dytrophy accompanied by amyloid depoit and aociated with the R124H mutation, Avellino corneal dytrophy, i more common. Direct examination may be inufficient in the proper diagnoi of corneal dytrophy, and BIGH3 mutation analyi may be required.