Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan

PURPOSE: To evaluate the incidence of BIGH3 gene mutations in 164 unrelated Japanese patients with corneal stromal dystrophies with an autosomal domin ant trait. METHODS: Data were collected at two major institutions in the eastern and w estern parts of Japan, where molecular genetic analysis was performed for d iagnostic purpose, RESULTS: The incidence of mutations was ranked as follows: 118 patients (72 %), the R124H mutation associated with Avellino corneal dystrophy; 23 patie nts (14%), the R124C mutation associated with lattice corneal dystrophy typ e 1; and 10 patients (6%), the P501T mutation associated with lattice corne al dystrophy type 3A, CONCLUSION: Avellino corneal dystrophy associated with the R124H mutation i s the most common form of corneal stromal dystrophy in Japan. This dystroph y, which is diagnosed histopathologically, has also been called granular co rneal dystrophy in Japan. The classification of these diseases according to genetic pathogenesis may be more appropriate than is the use of clinical o r histological findings. (C) 2000 by Elsevier Science Inc. All rights reser ved.