Choroideremia in women
Reviewed by Ian Reekie

The authors report a questionnaire-based study of female carriers of choroideremia, an X-linked inherited chorioretinal dystrophy. As an X-linked condition the full clinical features are predominantly seen in men but a proportion of women suffer some morbidity, likely due to skewed X-chromosome inactivation. Inclusion was based on self-reported CHM gene mutation carrier status or clinical diagnosis of CHM carrier status. An electronic questionnaire was distributed via partner stakeholder organisations and social media groups for choroideremia patients. Fifty-five responses were obtained. The survey focused on the psychological and social impacts of the choroideremia carrier status as well as the impact on visual function. Seventy-three percent of respondents assessed their overall visual function as good, though 55% also rated their night vision as poor and around 60% mentioned some impact on driving. The psychological symptoms reported by the patients in this study included anxiety, feelings of isolation, anger and fear, and were experienced by asymptomatic as well as symptomatic carriers. Sixty-four percent of respondents worried about future decline in their visual function. Due to the self-reported nature of the CHM mutation carrier status in this study it cannot be determined if some mutations are more likely to give symptomatic carriers than others. The respondents are also a self-selecting group, which may produce selection bias. Nonetheless this study highlights the psychological impact that carrier status of an inherited retinal disease can have on patients, and the importance of research into female patients who may still suffer some morbidity from X-linked diseases. Choroideremia is the focus of some extremely exciting research into potential genetic therapies, and care should be taken so that symptomatic female carriers are not left behind.

Exploring the impact of Choroideremia on women with phenotypic and/or genotypic evidence of disease: insights from a global survey.
Bonneau S, Kulbay M, Kahn-Ali S, Qian CX.
OPHTHALMIC GENETICS
2024;45(5):452–61.