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  • Title: Detection of localized retinal dysfunction in a choroideremia carrier.
    Author: Cheung MC, Nune GC, Wang M, McTaggart KE, MacDonald IM, Duncan JL.
    Journal: Am J Ophthalmol; 2004 Jan; 137(1):189-91. PubMed ID: 14700671.
    Abstract:
    PURPOSE: To investigate severe unilateral vision loss in a choroideremia carrier. DESIGN: Case report. METHODS: Ocular examination, genetic testing, Humphrey visual fields, full-field and multifocal (mf) electroretinogram (ERG) tests were used to study a family with choroideremia. RESULTS: In 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. CONCLUSIONS: Multifocal 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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