title: Affected females in X-linked congenital stationary night blindness.
abstract: Most heterozygous (carrier) females in families with X-linked congenital stationary night blindness are asymptomatic. Several anecdotal cases of manifesting females in X-linked congenital stationary night blindness have been reported, but few clinical details are available. The authors report clinical, electroretinographic, and dark adaptation studies of four affected females from a five-generation family with X-linked congenital stationary night blindness. Each of the manifesting females was the daughter of a different, asymptomatic, carrier mother. None of the 14 daughters of the 9 affected males showed signs or symptoms of congenital stationary night blindness. Uneven X-chromosomal lyonization is the most likely reason for these females manifesting this X-linked disorder.
authors.affiliation: Department of Ophthalmology, Medical College of Wisconsin, Milwaukee.
authors.forename: M S
authors.initials: MS
authors.lastname: Ruttum
authors.forename: M F
authors.initials: MF
authors.lastname: Lewandowski
authors.forename: J B
authors.initials: JB
authors.lastname: Bateman
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D003623:Dark Adaptation; D004596:Electroretinography; D005190:Family; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009755:Night Blindness / Q000151:congenital / Q000235:genetics*; D010375:Pedigree; D012684:Sensory Thresholds; D014792:Visual Acuity; D014960:X Chromosome