Familial Exudative Vitreoretinopathy: Ocular Genetic Studies

Familial exudative vitreoretinopathy (FEVR) is a hereditary disease characterized by a retinal vascular development disorder. This review examines the frequencies of genetic mutations associated with FEVR and their correlations with clinical phenotypes based on current literature. LRP5, FZD4, TSPAN12, NDP, and ZNF408 are the most frequently reported mutated genes. NDP and FZD4 mutations are associated with more severe clinical manifestations, while TSPAN12 mutations present with milder phenotypes. Studies demonstrate significant variations in disease severity depending on mutation type. Moreover, asymmetric phenotypic expression is explained by variable penetrance and environmental influences. Our review emphasizes that the genetic background of FEVR is still not fully elucidated and highlights the need for further genetic research. Considering genotype-phenotype correlations in clinical management may contribute to the development of individualized follow-up and treatment strategies.