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

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Tác giả: Rebecca Clark, Lesley Everett, Molly Marra, Haider Sarwar, Elizabeth White, Leland Wong

Ngôn ngữ: eng

Ký hiệu phân loại: 920.71 Men

Thông tin xuất bản: England : Ophthalmic genetics , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 57813

INTRODUCTION: 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. METHODS: 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. RESULTS: Of the 118 survey respondents, 67% had confirmed genetics or a family history of CONCLUSION: 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.
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