Molecular analysis of foveoschisis in females reveals a novel case of segmental uniparental disomy in X-linked retinoschisis
This is the first reported X-linked retinoschisis (XLRS) case with seg UPiD. We emphasize the significance of SNP arrays in elucidating non-Mendelian inheritance cases. We report a novel variant, which is the first to be detected in the RS1 domain in a female.
Authors
- Mona L. Essawi (ORCID: https://orcid.org/0000-0002-1067-8873)
- Caroline Atef Tawfik (ORCID: https://orcid.org/0000-0001-5856-2135)
- Nagham M. Elbagoury (ORCID: https://orcid.org/0000-0002-3826-9780)
- Ola M. Eid (ORCID: https://orcid.org/0000-0002-3898-7117)
- Amal M. Mohamed (ORCID: https://orcid.org/0000-0003-0258-7653)
- Heba Fathy
- Mostafa Nabih
Institutions
- Ain Shams University (EG)
- Cairo University (EG)
- National Research Centre (EG)
Publication Details
- Journal
- Documenta Ophthalmologica
- Published
- 2025-10-22
- DOI
- https://doi.org/10.1007/s10633-025-10053-y
- Citations
- 1
- Primary Topic
- Retinal and Macular Surgery
- Type
- article
- Field-Weighted Citation Impact
- 1.36