<i>DYRK1A</i> syndrome presenting with a familial exudative vitreoretinopathy (FEVR)-like retinovascular phenotype
These cases confirm vitreoretinal involvement as an associated finding in DYRK1A syndrome and highlight FEVR-like retinovascular abnormalities as a potential diagnostic clue for the condition in individuals with neurodevelopmental disorders.
Authors
- Siying Lin (ORCID: https://orcid.org/0000-0003-1122-8396)
- Dorothy Thompson (ORCID: https://orcid.org/0000-0001-5491-3911)
- Omar A. Mahroo (ORCID: https://orcid.org/0000-0003-1254-0832)
- Gavin Arno (ORCID: https://orcid.org/0000-0002-6165-7888)
- Mariya Moosajee (ORCID: https://orcid.org/0000-0003-1688-5360)
- Andrew R. Webster (ORCID: https://orcid.org/0000-0001-6915-9560)
- Robert Henderson (ORCID: https://orcid.org/0000-0002-5250-6404)
- Eleanor Hay (ORCID: https://orcid.org/0000-0001-8599-8890)
Institutions
- St Thomas' Hospital (GB)
- Moorfields Eye Hospital NHS Foundation Trust (GB)
- Great Ormond Street Hospital (GB)
- The Francis Crick Institute (GB)
- University of Manchester (GB)
- National Institute for Health and Care Research (GB)
- Manchester University NHS Foundation Trust (GB)
- St Mary's Hospital (GB)
- St. Thomas Hospital (CA)
- Institute of Ophthalmology (MX)
- Greenwood Genetic Center (US)
- Genomics (United Kingdom) (GB)
- University College London (GB)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2025-05-22
- DOI
- https://doi.org/10.1080/13816810.2025.2503388
- Citations
- 1
- Primary Topic
- Retinal and Macular Surgery
- Type
- article
- Field-Weighted Citation Impact
- 1.36
Funders
- Medical Research Council