• Am. J. Ophthalmol. · Jan 2004

    Case Reports

    Detection of localized retinal dysfunction in a choroideremia carrier.

    • Marsha C Cheung, George C Nune, Min Wang, Kerry E McTaggart, Ian M MacDonald, and Jacque L Duncan.
    • University of California School of Medicine, San Francisco, California 94143-0730, USA.
    • Am. J. Ophthalmol. 2004 Jan 1; 137 (1): 189-91.

    PurposeTo investigate severe unilateral vision loss in a choroideremia carrier.DesignCase report.MethodsOcular examination, genetic testing, Humphrey visual fields, full-field and multifocal (mf) electroretinogram (ERG) tests were used to study a family with choroideremia.ResultsIn a carrier with unilateral central vision loss, mfERG showed severely reduced amplitudes which correlated with a band of retinal pigment epithelial and choroidal atrophy in the macula, a dense central scotoma on Humphrey visual fields testing, and decreased ERG amplitudes.ConclusionsMultifocal ERG may be a sensitive tool to measure functional abnormalities in choroideremia carriers. Mosaic inactivation of the normal gene may cause expression of the mutation with severe vision loss in choroideremia carriers.

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