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Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region.
The Netherlands Ophthalmic Research Institute, Amsterdam.
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.
PMID: 7633454 [PubMed - indexed for MEDLINE]
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Cited by 2 PubMed Central articles
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Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.
Boycott KM, Pearce WG, Musarella MA, Weleber RG, Maybaum TA, Birch DG, Miyake Y, Young RS, Bech-Hansen NT.
Am J Hum Genet. 1998 Apr; 62(4):865-75.
[Am J Hum Genet. 1998]
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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.
J Med Genet. 1996 Oct; 33(10):869-72.
[J Med Genet. 1996]