J Med Genet 33:869-872 doi:10.1136/jmg.33.10.869
  • Research Article

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

  1. A A Bergen,
  2. J B ten Brink,
  3. F Riemslag,
  4. E J Schuurman,
  5. F Meire,
  6. N Tijmes,
  7. P T de Jong
  1. Department of Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, Amsterdam, The Netherlands.


      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.