Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region

Hum Mol Genet. 1995 May;4(5):931-5. doi: 10.1093/hmg/4.5.931.

Abstract

X-linked congenital stationary night blindness (CSNBX) is a non-progressive retinal disorder characterized by decreased visual acuity and loss of night vision. CSNBX is clinically heterogeneous with respect to the involvement of retinal rods and/or cones in the disease. In this study, we localize a new locus for CSNBX to Xp21.1, thus providing evidence that CSNBX is also genetically heterogeneous. A clear correlation between different genotypes and phenotypes cannot be found yet. The new CSNBX gene described here is closely linked to the X-linked retinitis pigmentosa type 3 gene region, which supports the hypothesis that there may be a functional relationship between congenital stationary night blindness and retinitis pigmentosa.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Female
  • Genetic Linkage*
  • Genotype
  • Humans
  • Male
  • Night Blindness / genetics*
  • Pedigree
  • Phenotype
  • Retinitis Pigmentosa / classification
  • Retinitis Pigmentosa / genetics*
  • X Chromosome*