Affected females in X-linked congenital stationary night blindness

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 clinic...

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Bibliographic Details
Published inOphthalmology (Rochester, Minn.) Vol. 99; no. 5; p. 747
Main Authors Ruttum, M S, Lewandowski, M F, Bateman, J B
Format Journal Article
LanguageEnglish
Published United States 01.05.1992
Subjects
Adolescent
Adult
Aged
Aged, 80 and over
Child
Child, Preschool
Dark Adaptation
Electroretinography
Family
Female
Genetic Linkage
Humans
Infant
Male
Middle Aged
Night Blindness - congenital
Night Blindness - genetics
Pedigree
Sensory Thresholds
Visual Acuity
X Chromosome
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Summary: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.
ISSN:0161-6420
DOI:10.1016/S0161-6420(92)31902-5