An analysis of LRP5 gene frequencies in infants with familial exudative vitreoretinopathy in Chongqing and Urumqi.

The aim is to explore the LRP5 gene frequencies in infants with familial exudative vitreoretinopathy (FEVR) phenotype in Chongqing and Urumqi. This study enrolled a group of infants in Chongqing and Urumqi diagnosed with the FEVR phenotype during neonatal eye disease screening. The infants were stratified by sex and ethnicity. Blood samples from the infants and their parents were collected for genetic testing, and the correlations between the incidence of FEVR and LRP5 status were examined using the χ2 test. There was no significant difference in the mutation rate of LRP5 between the 2 regions (P = .664). Among the patients carrying LRP5 mutations, there was no statistically significant difference in terms of sex (P = 1.0) and ethnicity (P = .386). Among the LRP5-mutated infants in Chongqing, 1 carried 2 different mutations and 15 carried 1 mutation. Among the LRP5-mutated infants in Urumqi, 1 carried 3 different mutations. Among patients with LRP5 mutations, 22.22% had unilateral disease, 9.38% of patients were diagnosed at stage 1A, 75% at stage 1B, 6.25% at stage 2A, and 9.38% at stage 2B. No stage 3, 4, or 5 patients were included in the study. About 6.25% of patients experienced retinal hemorrhage, 3.13% reported lens opacity, and 3.13% reported morning glory syndrome. In conclusion, no reliable correlations were found between the mutation rate of LRP5 and geographic, regional, or sex factors. Carriers of multiple gene mutations along with LRP5 mutations are more likely to develop more severe phenotypes than carriers of only LRP5 mutations.