Reproductive counseling and decision making in females affected by X-linked inherited retinal disease: perspectives from carriers

X-linked inherited retinal diseases (XL-IRDs) are genetic disorders that typically present with higher disease burden in individuals assigned male at birth, often resulting in significant vision loss. Individuals assigned female at birth (AFAB) may also experience symptoms. Understanding the role of genetic counseling and testing in reproductive decision-making for AFAB individuals with XL-IRDs is crucial for improving reproductive empowerment. This study surveyed AFAB individuals with a confirmed or family history of XL-IRDs. Eligible participants completed an anonymous online survey between July 2023 and November 2023, which collected data on genetic testing, counseling experiences, and the impact of these on reproductive decision making. Of the 118 survey respondents, 67% had confirmed genetics or a family history of CHM-related disease, 23% of RPGR/RP2, 5% of RS1, and 3% of NYX/CACNA1F. Fifty five percent of respondents would have preferred genetic testing earlier if it had been possible. Only 26 respondents (22.0%) received some sort of reproductive genetic counseling, the majority of which were counseled by a genetic counselor at a retinal dystrophy clinic. Most XX individuals with confirmed genetics or a family history of XL-IRDs had not received reproductive counseling about their diagnosis. However, their personal and familial experiences with an XL-IRD variably impacted their reproductive decision-making process. Recognition that retinal dystrophy clinics are the primary location for XL-IRD reproductive risk counseling informs the timing and content of counseling by ophthalmic genetics providers and genetic counselors.