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Related Experiment Videos

Choroideremia in a genotypically normal female. A case report.

M J Burke, E A Choromokos, L Bibler

    Ophthalmic Paediatrics and Genetics
    |December 1, 1985
    PubMed
    Summary

    A 10-year-old girl presented with advanced choroideremia, exhibiting vision loss and characteristic eye abnormalities. Despite genetic testing showing she was a normal female, her symptoms confirmed the diagnosis.

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    Area of Science:

    • Ophthalmology
    • Genetics
    • Medical Science

    Background:

    • Choroideremia is a rare, inherited X-linked eye disease causing progressive vision loss.
    • Typically affects males, with females being carriers and usually asymptomatic or mildly affected.