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Article

Progression of retinal pigment epithelial alterations during long-term follow-up in female carriers of choroideremia and report of a novel CHM mutation.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Jul 2009

Renner Agnes B, Fiebig Britta S, Cropp Elke, Weber Bernhard H F, Kellner Ulrich

Abstract excerpt

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 analysis of the CHM...

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Source

Identifiers

PMID: 19597113
DOI: 10.1001/archophthalmol.2009.123

Genes

CHM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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