Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity

Arch Ophthalmol. 1997 May;115(5):651-5. 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Mutational Analysis
  • DNA Primers / chemistry
  • Deafness / genetics
  • Electrophoresis, Agar Gel
  • Eye Proteins / genetics*
  • Female
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics
  • Male
  • Mutation*
  • Nerve Tissue Proteins / genetics*
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Retinal Diseases / genetics
  • Retinopathy of Prematurity / etiology
  • Retinopathy of Prematurity / genetics*


  • DNA Primers
  • Eye Proteins
  • NDP protein, human
  • Nerve Tissue Proteins