title: Variable expressivity in X-linked congenital stationary night blindness.
abstract: X-linked congenital stationary night blindness (CSNB) is a well-documented disorder in which the most striking clinical features are impaired night vision, nystagmus and myopia. Recent reports have highlighted differing features between families, and it has been suggested that these discrepancies may be the result of two loci on the X chromosome or of two mutant alleles. We outline the clinical and visual function findings in 42 affected members from 10 families and 1 adopted person. There was a relative unawareness of the disorder in clinical practice. At least one of the main features of CSNB was absent in 75% of the patients. The visual function values varied widely, both between and within families (visual acuity 20/30 to 20/400, refractive error +1.50 to -22.50 and rod segment elevation 1.5 to 3.0 log units). The findings are consistent with a single allele exhibiting a wide variation in clinical expression.
authors.affiliation: Department of Ophthamology, University of Alberta, Edmonton.
authors.forename: W G
authors.initials: WG
authors.lastname: Pearce
authors.forename: M
authors.initials: M
authors.lastname: Reedyk
authors.forename: S G
authors.initials: SG
authors.lastname: Coupland
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003623:Dark Adaptation; D004596:Electroretinography; D005260:Female; D005654:Fundus Oculi; D015870:Gene Expression; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009216:Myopia / Q000150:complications; D009755:Night Blindness / Q000150:complications / Q000151:congenital / Q000235:genetics* / Q000503:physiopathology; D009759:Nystagmus, Pathologic / Q000150:complications / Q000151:congenital; D010375:Pedigree; D012030:Refractive Errors / Q000150:complications; D013285:Strabismus / Q000150:complications; D014792:Visual Acuity; D014794:Visual Fields; D014960:X Chromosome