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Progression of Retinal Pigment Epithelial Alterations During Long-term Follow-up in Female Carriers of Choroideremia and Report of a Novel CHM Mutation

Renner, Agnes B. ; Fiebig, B. S. ; Cropp, E. ; Weber, Bernhard H. F. ; Kellner, U.



Abstract

OBJECTIVES: To report clinical and functional findings in 2 female carriers of choroideremia who were followed up for 11 and 17 years and who showed progression of fundus alterations; and to report a novel CHM mutation. METHODS: We performed follow-ups in 2 female carriers of choroideremia, including repeated clinical and electrophysiologic examinations and fundus autofluorescence. Molecular ...

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