Macular and optic nerve hypoplasia in chromosome 2p partial trisomy
We describe macular and optic nerve hypoplasia in a patient with a novel chromosomal rearrangement resulting in 2p partial trisomy and provide an overview of 17 previously reported cases presenting ocular abnormalities. A broad variability of ophthalmological phenotypes has been observed, further expanded by the current report.
Authors
- Eva Roomets (ORCID: https://orcid.org/0009-0005-2001-8464)
- Reelika Part
- Maris Laan (ORCID: https://orcid.org/0000-0002-8519-243X)
- Pille Tammur
Institutions
- Tartu University Hospital (EE)
- Tallinn Health Care College (EE)
- University of Tartu (EE)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2025-11-25
- DOI
- https://doi.org/10.1080/13816810.2025.2588336
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00