Photo Credit: Claudio Ventrella

Female carriers of choroideremia and X-linked retinitis pigmentosa report significantly worse visual symptoms compared with healthy patients, according to a cross-sectional online survey study published in the AJO International. Sena A. Gocuk, BSci (Hons), D-OPTOM, Mphil, and colleagues assessed 237 female carriers with choroideremia (74.3%) and X-linked retinitis pigmentosa (25.7%) alongside 100 age-matched healthy controls. The study highlighted a stark contrast in visual disability related to everyday activities across seven visual domains. The researchers found that female carriers, particularly those aged 50 and older, experienced markedly worse visual impairments compared with healthy counterparts, with most carriers based in the USA and Australia. This demographic detail emphasizes the global impact of X-linked retinal diseases and the unique challenges faced by female carriers, shedding light on the nuanced spectrum of visual disability within this group.  According to the authors, the study results may help determine which carriers are most affected by their disease-causing mutation, and therefore, should be considered for emerging treatments, such as gene therapy.