Objective: To evaluate and verify the correlation between retinopathy of prematurity (ROP) in preterm infant Chinese twins with the NDP/FZD4 gene mutation. Methods: In this case series study, clinical evaluations and gene examinations were done on 12 cases of preterm infant twins (6 couples, aged 4-6 weeks) with ROP which were identified in Shanghai Children's Hospital from January 2017 to December 2017.The mean gestation age was 31 weeks and the mean weight was 1 252 g. Polymerase chain reaction (PCR) amplification and Sanger sequencing were used to extract the human genome DNA from peripheral blood.
results: Twelve premature infants were diagnosed with stage 3 ROP, and 6 infants were diagnosed with threshold ROP disease and treated with photocoagulation combined with an injection of intraocular anti-VEGF medication. Lesions in the other 6 infants subsided during the follow-up period. The longest follow-up period was 7 months after birth. Neither a clear pathogenicity point mutation nor a small insertion/deletion in either a NDP or FZD4 gene was detected in any infants in the study. conclusions: There was no mutation correlation with the NDP or FZD4 gene in ROP in preterm infant twins. We predicate that other genetic or racial factors cause the ROP in preterm infant twins.