Affected females in X-linked congenital stationary night blindness.
Ophthalmology
; 99(5): 747-52, 1992 May.
Article
en En
| MEDLINE
| ID: mdl-1594221
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.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cromosoma X
/
Ceguera Nocturna
/
Ligamiento Genético
Límite:
Adolescent
/
Adult
/
Aged
/
Aged80
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Child
/
Child, preschool
/
Female
/
Humans
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Infant
/
Male
Idioma:
En
Revista:
Ophthalmology
Año:
1992
Tipo del documento:
Article
Pais de publicación:
Estados Unidos