%0 Journal Article
%T Exploring the impact of Choroideremia on women with phenotypic and/or genotypic evidence of disease: insights from a global survey.
%A Bonneau S
%A Kulbay M
%A Kahn-Ali S
%A Qian CX
%J Ophthalmic Genet
%V 0
%N 0
%D 2024 Jun 7
%M 38847528
%F 1.274
%R 10.1080/13816810.2024.2357705
%X <B>UNASSIGNED: </B>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 (ADLs).<BR><B>UNASSIGNED: </B>We conducted an international cross-sectional survey from April to December 2022 using an e-questionnaire distributed through not-for-profit stakeholder organizations and social media plat-forms.<BR><B>UNASSIGNED: </B>With a total of 55 respondents (n = 55), most women with phenotypic and/or genotypic evidence of CHM (76%) reported a change in their visual acuity. When assessing its impact on ADLs, Pearson's correlation coefficient showed a negative correlation between driving (p = 0.046) and mobility capabil-ities (0.046) with the respondent's age. More than half of women reported being afraid, anxious, and stressed, with women below the age of 50 years old reporting a significantly higher level of distress and hopelessness (p = 0.003), anxiety (p = 0.00007), issues with relaxing (p = 0.025), and negative personal thoughts (p = 0.042).<BR><B>UNASSIGNED: </B>Overall, this survey outlines both physical and psychological burden of being a woman with phenotypic and/or genotypic evidence of CHM. Given the limited clinical research in females affected by CHM, this patient-centered survey is a crucial advocacy tool for these individuals.