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

A. A. Bergen, J. B. ten Brink, F. Riemslag, E. J. Schuurman, F. Meire, N. Tijmes, P. T. de Jong

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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
Original languageEnglish
Pages (from-to)869-872
JournalJournal of medical genetics
Volume33
Issue number10
DOIs
Publication statusPublished - 1996

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