Norrie disease gene polymorphism in Indonesian infants with retinopathy of prematurity

What is it about?

Retinopathy of prematurity (ROP) is a major cause of blindness in newborn infants, which also occurs in developing countries. Why ROP progresses in some infants while it regresses in others is still presently unknown. Studies suggest that genetic factors might be involved. Mutations in the Norrie disease (ND) gene are suspected to be related to advanced ROP development. Indonesia is a country with relatively high incidences of ROP, yet the role of these genetic factors in the pathogenesis of ROP cases is still unknown. The aim of this study is to investigate the presence of mutations in the Norrie disease on the X chromosome in infants with both non-advanced and advanced ROP in Indonesia. From this study, we conclude that it is very unlikely that the six polymorphisms in exon 3 of the ND gene studied in this paper are involved to the development or progression of ROP in preterm infants in our population sample in Indonesia. Keywords: ROP, Norrie disease gene, polymorphism, mutation, PCR, DNA sequencing.

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