Background: Retinopathy of prematurity (ROP) is a retinal vascular disease occurring in infants with short gestational age and low birth weight and can lead to retinal detachment (ROP stages 4 and 5) VSports手机版. X-linked familial exudative vitreoretinopathy is phenotypically similar to ROP and has been associated with mutations in the Norrie disease (ND) gene in some cases. .

Objective: To determine if similar mutations in the ND gene may play a role in the development of advanced ROP V体育安卓版. .

Methods: Clinical examination and molecular genetic analysis were performed on 16 children, including 2 dizygotic and 1 monozygotic twin pairs, and their parents from 13 families. V体育ios版.

Results: Sequencing of the amplified products revealed missense mutations (R121W and L108P) in the third exon of the ND gene in 4 patients VSports最新版本. These mutations were not present in an unaffected premature twin, 2 children with regressed stage 3 ROP, the parents, or in 50 unrelated healthy control subjects. .

Conclusion: These findings suggest that mutations in the ND gene may play a role in the development of severe ROP in premature infants V体育平台登录. .