Norrie Disease Gene Mutation in an Iranian Population of Neonates with Advanced Retinopathy of Prematurity

To determine the association between Norrie disease (ND) gene mutations and advanced stages of retinopathy of prematurity (ROP) in premature neonates who were referred to Farabi Eye Hospital, Tehran, Iran during 2005-2007.

Fifty infants including 28 male and 22 female subjects with ROP stage 3 or worse were enrolled in this case series. All three exons of ND gene underwent polymerase chain reaction (PCR) with three primer pairs and direct sequencing to determine any mutation.

Mean birth weight was 1187.6±227.6 (range 580-2000) gram and mean gestational age was 28.6±2.1 (range 24-34) weeks. Thirty-eight patients had stage 3 ROP with plus disease, four patients had stage 4 ROP and eight patients had stage 5 ROP. A C15078A mutation was found in the second intron of 90% of the cases.

C15078A mutation is in a non-translated region of the ND gene and has no effect on mRNA splicing; therefore the association between this ND gene mutation and advanced stages of ROP in Iranian neonates with ROP is not significant.