Significantly worse vision found in female carriers of X-linked RP and Choroideremia
A recent study has challenged the previous belief that female carriers of X-linked inherited retinal diseases (IRDs), such as X-linked retinitis pigmentosa (RP) and choroideremia, are unaffected by sight loss.
It was previously believed that female carriers of X-linked inherited retinal diseases (IRDs) like X-linked retinitis pigmentosa (RP and Choroideremia) remained unaffected by sight loss. However, a recent study has found that female carriers of choroideremia and X-linked RP have significantly worse visual symptoms when compared to healthy controls. Female carriers have a single copy of the disease-causing variant.
The study involved 237 female carriers and 100 controls whose vision was tested across seven domains including: central vision, colour vision, contrast sensitivity, photopic (cone/ colour vision) peripheral vision, scotopic function (rod function/ black and white vision), mesopic (rods and cones) peripheral vision and photosensitivity. Not only were female carrier’s vision significantly worser than controls but, female carriers aged over 50 years old had significantly greater visual function impairment across all domains except photosensitivity than female carriers under the age of 50.
These findings are important in understanding the potential visual challenges faced by female carriers of x-linked IRDs, to help provide targeted clinical care and support. The findings also highlight the importance of considering carriers in upcoming retinal gene therapy clinical trials. The study researchers stressed the importance for female carriers of X-linked IRD’s to undergo routine and comprehensive visual assessments, even those with mild phenotypes.
Further investigation is needed with future research using a larger sample size to establish any differences between carriers of X-linked RP and choroideremia. Also, this study didn’t evaluate vision change over time which is important for establishing whether female carriers experience progressive vision loss. Nevertheless, the findings are important for female carriers of X-linked IRD’s