Genomic newborn screening for actionable, sight-threatening eye diseases

Summary

This research letter, published in the Canadian Journal of Ophthalmology as an article in press, looks at whether gene testing in newborn babies can help find serious eye diseases early. The Baby Detect project used a DNA test soon after birth and screened 6,074 babies. It found two babies with changes in the FZD4 gene that can cause a type of eye disease called familial exudative vitreoretinopathy, or FEVR. These babies are being watched closely by eye doctors, and they do not have signs of the disease yet.

The paper says this kind of screening could help doctors find some eye diseases weeks or months earlier than usual. That could give children a better chance of early treatment and better sight. The authors also say that more work is needed before this can be used as public policy.

Keywords: newborn screening, gene testing, eye diseases, early diagnosis, familial exudative vitreoretinopathy, FZD4, retinoblastoma, RPE65, children, vision.