Aociation of autoomal dominantly inherited corneal dytrophie with BIGH3 gene mutation in Japan

PURPOE: To evaluate the incidence of BIGH3 gene mutation in 164 unrelated Japanee patient with corneal tromal dytrophie with an autoomal dominant trait. METHOD: Data were collected at two major intitution in the eatern and wetern part of Japan, where molecular genetic analyi wa performed for diagnotic purpoe. REULT: The incidence of mutation wa ranked a follow: 118 patient (72%), the R124H mutation aociated with Avellino corneal dytrophy; 23 patient (14%), the R124C mutation aociated with lattice corneal dytrophy type 1; and 10 patient (6%), the P501T mutation aociated with lattice corneal dytrophy type 3A. CONCLUION: Avellino corneal dytrophy aociated with the R124H mutation i the mot common form of corneal tromal dytrophy in Japan. Thi dytrophy, which i diagnoed hitopathologically, ha alo been called granular corneal dytrophy in Japan. The claification of thee dieae according to genetic pathogenei may be more appropriate than i the ue of clinical or hitological finding.