A family harboring homozygous FZD4 deletion supports the existence of recessive FZD4-related familial exudative vitreoretinopathy

ABSTRACTPurpose: To document recessive FZD4-related familial exudative vitreoretinopathy.Methods: Retrospective case series.Results: Two brothers, the only two males among five siblings, had bilateral infantile retinal detachments and were referred for genetic counseling. Next-generation sequencing uncovered a homozygous FZD4 frameshift deletion in both affected brothers (c.40_49delCCCGGGGGCG; p.Pro14Serfs*44). None of the other immediate family members had clinical evidence for retinal disease, including the three family members who underwent confirmatory genetic testing and were found to be heterozygous for the mutation (both parents and one sister).Conclusions: The findings in this family support the concept that some mutated FZD4 alleles can be associated with recessive rather than dominant disease.