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Case Report: Preventing X-linked retinoschisis transmission via MARSALA-based PGT-M
Jieliang Li1, Xiaojun Wen1, Zhanhui Ou1
1Reproductive Center, Zhongshan Boai Hospital, Zhongshan, Guangdong, China.
Preimplantation genetic testing for monogenic diseases (PGT-M) successfully prevented X-linked retinoschisis (XLRS) transmission. This genetic testing identified healthy embryos, enabling a family to have an unaffected child, demonstrating PGT-M
Area of Science:
- Ophthalmology
- Genetics
- Reproductive Medicine
Background:
- X-linked retinoschisis (XLRS) is an inherited retinal disease caused by RS1 gene mutations, leading to vision impairment.
- A family with a history of XLRS sought to prevent transmission of the pathogenic RS1 variant to future generations.
- Previous generations experienced bilateral visual impairment and metamorphopsia due to the condition.
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