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

Purpoe To identify the genetic defect in the FZD4 gene reponible for familial exudative vitreoretinopathy (FEVR) in a Japanee family. Deign Interventional cae report. Method Complete ophthalmologic examination were performed, and the FZD4 gene wa analyzed by direct genomic equencing. Reult Fundu examination of a 13-year-old Japanee girl who had had eotropia and exudative retinal detachment at 3 year exhibited peripheral avacular area bilaterally, a dragged dik, and retinal hole unilaterally. In contrat, her aymptomatic father had only bilateral avacular area in the peripheral retina. Molecular genetic analyi revealed that both the proband and her father had a heterozygou miene mutation of A to G at 1026 bp of the FZD4 gene (Met342Val). Concluion A novel mutation in the FZD4 gene wa identified in Japanee patient with FEVR. Our obervation upport the hypothei that the FZD4-aociated FEVR might repreent a milder form than that aociated with other genetic origin