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.