Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region
- 1 May 1995
- journal article
- research article
- Published by Oxford University Press (OUP) in Human Molecular Genetics
- Vol. 4 (5) , 931-935
- https://doi.org/10.1093/hmg/4.5.931
Abstract
X-linked congenital stationary night blindness (CSNBX) is a non-progressive retinal disorder characterized by decreased visual acuity and loss of night vision. CSNBX Is clinically heterogeneous with respect to the involvement of retinal rods and/or cones in the disease. in this study, we localize a new locus for CSNBX to Xp21.1, thus providing evidence that CSNBX is also genetically heterogeneous. A clear correlation between different genotypes and phenotypes cannot be found yet. The new CSNBX gene described here is closely linked to the X-linked retinitis pigmentosa type 3 gene region, which supports the hypothesis that there may be a functional relationship between congenital stationary night blindness and retinitis pigmentosa.Keywords
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