Mutation of FZD4 gene in patients with FEVR

Objective: To review the pathogenic genes and their potential in children with familial exudative vitreoretinopathy (FEVR). To analyze the mutation type and frequency of FZD4 gene in different regions, and to analyze the relationship between genotype and phenotype. Step by step to expand the genetic database of FEVR diseases. Methods: A total of 300 children from 90 families in Chongqing area and 49 children from 16 families in Xinjiang area were included in this study. Retinal imaging system RetcamIII was used for fundus photography in all patients. Peripheral blood was collected from all patients Results: There was no statistical difference in FZD4 gene mutation rate between two regions, and no statistical difference in gene mutation rate between different genders and different nationalities . In the stages of FEVR, stage 1 3 eyes,stage 2A 3 eyes, stage 2B 2 eyes, and stage 3, 4 and 5 did not appear. Conclusion: Early screening of neonatal eye disease combined with genetic testing can achieve early detection and treatment of FEVR disease. Mastering the relationship between genotype and phenotype helps to properly provide necessary information for genetic counseling, and explore possible means of gene therapy.A total of 349 samples were tested, among which 5 progenitor had FZD4 mutation, including 1 in Xinjiang(Xinjiang FEVR-73969)and 4 in Chongqing(Chongqing FEVR-098/Chongqing FEVR-170/Chongqing FEVR-225/Chongqing FEVR-294).