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    Ophthalmology. 1992 May;99(5):747-52.

    Affected females in X-linked congenital stationary night blindness.

    Source

    Department of Ophthalmology, Medical College of Wisconsin, Milwaukee.

    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.

    PMID:
    1594221
    [PubMed - indexed for MEDLINE]

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