Clinical findings in a carrier of a new mutation in the choroideremia gene.

Abstract excerpt

OBJECTIVE: To describe the clinical and molecular findings of a female carrier of a new mutation in the choroideremia (CHM) gene. DESIGN: Single interventional case report. METHODS: A 27-year-old woman was seen with mild difficulties with dark adaptation and a history of a retinal degeneration in her father and choroideremia in 3 male paternal first cousins. Visual acuity measurements, peripheral and color vision...

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