Severe Form of Familial Exudative Vitreoretinopathy Caused by Homozygous R417Q Mutation in Frizzled-4 Gene

PURPOSE: To report the clinical features of a patient with familial exudative vitreoretinopathy (FEVR) associated with homozygous R417Q mutation in the frizzled-4 gene (FZD4). METHODS: Clinical examination and mutation analysis by direct sequencing. RESULTS: A five-month-old girl was found to have leukocoria associated with retrolental fibroplasia in the right eye and a severe falciform retinal fold in the left eye. Mutational analysis revealed a homozygous R417Q mutation in the FZD4 gene. Her parents who carried the same mutation heterozygously exhibited milder ocular phenotype. CONCLUSIONS: Homozygous state for the FZD4 gene is possibly involved in the severity of the FEVR phenotype.