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Article

Exploring the impact of Choroideremia on women with phenotypic and/or genotypic evidence of disease: insights from a global survey.

Ophthalmic genetics - 1 Oct 2024

Bonneau Steven, Kulbay Merve, Kahn-Ali Shigufa, Qian Cynthia X

Abstract excerpt

INTRODUCTION: Choroideremia (CHM) is an X-linked inherited retinal disease mostly affecting males. However, women with phenotypic and/or genotypic evidence of CHM may develop degenerative visual disability with advancing age. Our objective was to determine the visual impacts of phenotypic and/or genotypic evidence of CHM in women and its associated psychosocial burden and influence on activities of daily living...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38847528
DOI: 10.1080/13816810.2024.2357705

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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