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May 1997

Identification of Missense Mutations in the Norrie Disease Gene Associated With Advanced Retinopathy of Prematurity

Arch Ophthalmol. 1997;115(5):651-655. doi:10.1001/archopht.1997.01100150653015

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). 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.

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.

Results:  Sequencing of the amplified products revealed missense mutations (R121W and L108P) in the third exon of the ND gene in 4 patients. 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.