Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1

J Med Genet. 1996 Oct;33(10):869-72. doi: 10.1136/jmg.33.10.869.

Abstract

X linked congenital stationary night blindness (CSNBX) is a non-progressive retinal disorder characterised by decreased visual acuity and disturbance of night vision. CSNBX appears to be not only clinically but also genetically heterogeneous. On studying a single large family, we recently suggested the presence of a distinct locus for CSNBX in Xp21.1. Here, we describe the results of a linkage analysis in another large CSNBX family, which confirms this finding. Thus, the data presented here provide conclusive evidence for a distinct CSNBX locus in Xp21.1, closely linked to the X linked retinitis pigmentosa type 3 gene. The results combined with other published results indicate the order Xpter-DXS451-DMD-DYS1-(DXS1110, CSNBX1, XLRP3)-DXS7-(CSNBX2, XLRP2)-DXS14-Xcen.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA / analysis
  • Female
  • Genetic Linkage
  • Humans
  • Male
  • Night Blindness / congenital
  • Night Blindness / genetics*
  • Pedigree
  • X Chromosome*

Substances

  • DNA