X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein

Clin Genet. 1996 Sep;50(3):113-5. doi: 10.1111/j.1399-0004.1996.tb02363.x.


We report the cosegregation of an arginine to leucine substitution at position 121 of the Norrie disease protein in a large kindred where exudative vitreoretinopathy segregates as an X-linked recessive trait. The clinical phenotype and rate of disease progression were extremely variable, with progression to total retinal detachment from less than age 2 years to more than 21 years. To date, all mutations in X-linked vitreoretinopathy have been missense mutations, presumably not affecting the three-dimensional structure of the NDP gene product, and clustered around residues 121-126 of the Norrie protein. This contrasts with the diversity of mutations seen in the more severe, allelic Norrie disease.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Arginine*
  • Base Sequence
  • DNA
  • Eye Diseases, Hereditary / genetics*
  • Eye Diseases, Hereditary / metabolism
  • Eye Diseases, Hereditary / physiopathology
  • Eye Proteins / genetics*
  • Female
  • Genes, Recessive*
  • Humans
  • Leucine*
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Point Mutation*
  • Retinal Detachment / genetics*
  • Retinal Detachment / metabolism
  • Retinal Detachment / physiopathology
  • Visual Acuity / genetics
  • X Chromosome*


  • Eye Proteins
  • DNA
  • Arginine
  • Leucine

Associated data

  • GENBANK/X65724