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. 

 

 

Read the full report here