Reproductive counselling for females with X-linked inherited retinal diseases
Reviewed by Ian Reekie

The authors report a survey-based study of 118 female patients who were genetically confirmed carriers or obligate carriers of an X-linked inherited retinal disease. The majority (66.9%) of these patients were carriers of choroideremia; other diagnoses included retinitis pigmentosa, X-linked retinoschisis and congenital stationary night blindness. Patients were identified from an institutional database and sent a survey with questions focusing on experiences of genetic counselling and reproductive decision-making, from which results were anonymised. Sixty-six percent of respondents would have liked earlier genetic testing, but only 27% said that it would have impacted their reproductive choices, and only 33% of these reported that they would have not had children based on the results. Of the patients who had genetic testing, only 11% had it prior to having children. Interestingly, there was a significant association between patients being familiar with assisted reproduction technologies such as IVF and pre-implantation genetic diagnosis and preferring earlier genetic testing for themselves. Only 22% of respondents reported genetic counselling; 57.7% of these were counselled by a genetic counsellor at a retinal dystrophy clinic. This study highlights the importance that some patients place on the provision of genetic testing, while also showing that for some patients this information has very little impact on their reproductive planning. It does seem however that greater knowledge of assisted reproduction technologies increases desire for early genetic testing, and as these technologies become more common place this may play into more patients’ decision-making processes.

Reproductive counselling and decision making in females affected by X-linked inherited retinal disease: perspectives from carriers.
Clark R, Sarwar H, Wong L, et al.
OPHTHALMIC GENETICS
2025;46(3):243–8.