title: Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region.
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.
authors.affiliation: The Netherlands Ophthalmic Research Institute, Amsterdam.
authors.forename: A A
authors.initials: AA
authors.lastname: Bergen
authors.forename: J B
authors.initials: JB
authors.lastname: ten Brink
authors.forename: F
authors.initials: F
authors.lastname: Riemslag
authors.forename: E J
authors.initials: EJ
authors.lastname: Schuurman
authors.forename: N
authors.initials: N
authors.lastname: Tijmes
mesh_terms: D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008297:Male; D009755:Night Blindness / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012174:Retinitis Pigmentosa / Q000145:classification / Q000235:genetics*; D014960:X Chromosome