Article
Clinical diagnoses that overlap with choroideremia.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie - 1 Aug 2003
Lee Thomas K M, McTaggart Kerry E, Sieving Paul A, Heckenlively John R, Levin Alex V, Greenberg Jacquie, Weleber Richard G, Tong Patrick Y, Anhalt Edward F, Powell Berkley R, MacDonald Ian M
Abstract excerpt
PURPOSE: To understand which clinical presentations suggest a diagnosis of choroideremia (CHM). METHODS: Retrospective chart review. Included were patients for whom a clinical diagnosis of CHM was suggested, but either protein analysis or direct sequencing of the CHM gene could not confirm the diagnosis. Clinical presentation, family history and fundus photographs were reviewed. RESULTS: We analyzed protein and...
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