26 February, 2024
An Australian study, “Perspectives of carriers of X-linked retinal diseases on genetic testing and gene therapy: A global survey” (S.Gocuk et al, 2023) was recently published in Clinical Genetics, reporting on the first worldwide survey of female X-linked IRD carriers.
The study highlighted that over half of female carriers had genetic testing, with most people motivated to find out if they were a carrier and around one-third wanting to confirm a relative’s diagnosis. The majority of carriers experienced feelings of guilt, concern and anxiety for potentially passing on the disease-causing gene to their children which may cause loss of vision. Despite this, few reported receiving counselling or family planning advice.
X-linked conditions are caused by gene mutations on the X-chromosome. X-linked inherited retinal diseases include choroideremia, juvenile retinoschisis and X-linked retinitis pigmentosa.
Key report highlights
Survey responses were received from 288 female X-linked IRD carriers. The majority of respondents were from the United States of America (51%), Australia (19%), and the United Kingdom (14%).
- Over half (56%) female carriers had genetic testing and 38% had genetic counselling.
- Most respondents self-reported their motivation for undertaking genetic testing was because they had affected relatives and wanted to know if they were a carrier (57%) or wanted to confirm their relative’s diagnosis (36%).
- One in five carriers had genetic testing because they had symptoms suggestive of an IRD (20%) or were interested in family planning (18%).
- Female carriers experience feelings of guilt (70%), concern (91%), and anxiety for their child’s vision (88%) and their own vision, particularly as they receive limited information.
- Respondents agreed that their eyecare provider and general practitioner helped them understand their condition (63%), however, few carriers reported receiving psychological counselling (9%) or family planning advice (5%).
- Female carriers who had given birth to children had significantly greater gene therapy knowledge compared to carriers who had not.
- 78% of the respondents felt that female carriers should have access to emerging gene therapy options.
Retina Australia assisted in the distribution of the survey in this study.
https://retinaaustralia.com.au/perspectives-of-female-x-linked-ird-carriers/
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