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    Arch Ophthalmol. 1996 Sep;114(9):1136-8.

    Norrie disease. Diagnosis of a simplex case by DNA analysis.

    Chynn EW, Walton DS, Hahn LB, Dryja TP.

    Source

    Department of Ophthalmology, Massachusetts Eye and Ear Infirmiary, Boston, USA.

    Abstract

    Norrie disease is a rare, X-linked recessive disorder characterized by congenital blindness due to malformed retinas. We describe a simplex patient who had leukokoria and whose clinical diagnosis was confirmed only after molecular genetics analysis. DNA analysis was also used to determine the carrier status of relatives of the proband.

    PMID:
    8790105
    [PubMed - indexed for MEDLINE]

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