Aab. Bergen et al., LOCALIZATION OF A NOVEL X-LINKED CONGENITAL STATIONARY NIGHT BLINDNESS LOCUS - CLOSE LINKAGE TO THE RP3 TYPE RETINITIS-PIGMENTOSA GENE REGION, Human molecular genetics, 4(5), 1995, pp. 931-935
X-linked congenital stationary night blindness (CSNBX) is a non-progre
ssive retinal disorder characterized by decreased visual acuity and lo
ss of night vision. CSNBX is clinically heterogeneous with respect to
the involvement of retinal rods and/or cones in the disease. In this s
tudy, we localize a new locus for CSNBX to Xp21.1, thus providing evid
ence that CSNBX is also genetically heterogeneous. A clear correlation
between different genotypes and phenotypes cannot be found yet, The n
ew CSNBX gene described here is closely linked to the X-linked retinit
is pigmentosa type 3 gene region, which supports the hypothesis that t
here may be a functional relationship between congenital stationary ni
ght blindness and retinitis pigmentosa.