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1: J Med Genet. 1996 Oct;33(10):869-72.Click here to read Click here to read Links

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

Bergen AA, ten Brink JB, Riemslag F, Schuurman EJ, Meire F, Tijmes N, de Jong PT.

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.

PMID: 8933343 [PubMed - indexed for MEDLINE]

PMCID: PMC1050769