Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy

To identify the genetic defect in the FZD4 gene responsible for familial exudative vitreoretinopathy (FEVR) in a Japanese family. Interventional case report. Complete ophthalmologic examinations were performed, and the FZD4 gene was analyzed by direct genomic sequencing. Fundus examination of a 13-year-old Japanese girl who had had esotropia and exudative retinal detachment at 3 years exhibited peripheral avascular areas bilaterally, a dragged disk, and retinal holes unilaterally. In contrast, her asymptomatic father had only bilateral avascular areas in the peripheral retina. Molecular genetic analysis revealed that both the proband and her father had a heterozygous missense mutation of A to G at 1026 bp of the FZD4 gene (Met342Val). A novel mutation in the FZD4 gene was identified in Japanese patients with FEVR. Our observations support the hypothesis that the FZD4-associated FEVR might represent a milder form than that associated with other genetic origins.