One year follow up in siblings with TREX1-associated retinal vasculopathy with cerebral leukodystrophy
Several valuable monitoring tools, including UWF-FA and OCT-A, are essential for this rare disease. Ophthalmologists must be aware, as many RVCL patients first show isolated ocular findings detectable with OCT, and even earlier with UWF-OCT-A.
Authors
- Reinhard Lehner (ORCID: https://orcid.org/0000-0001-7690-475X)
- Gábor Deák (ORCID: https://orcid.org/0000-0002-7885-7624)
- Stefan Sacu (ORCID: https://orcid.org/0000-0002-4920-2231)
- Wolf Buehl (ORCID: https://orcid.org/0000-0003-1047-8385)
- Ioanna Dimakopoulou (ORCID: https://orcid.org/0000-0002-7561-3093)
- Georgios Mylonas (ORCID: https://orcid.org/0000-0003-2128-720X)
- Markus Ritter (ORCID: https://orcid.org/0000-0003-1406-8340)
- Marlene Hollaus (ORCID: https://orcid.org/0000-0002-4541-5766)
- Ursula Schmidt-Erfurth
- Guenther Weigert (ORCID: https://orcid.org/0000-0003-4314-0620)
- Johannes Iby
Institutions
- Medical University of Vienna (AT)
Publication Details
- Journal
- American Journal of Ophthalmology Case Reports
- Published
- 2025-11-05
- DOI
- https://doi.org/10.1016/j.ajoc.2025.102463
- Primary Topic
- interferon and immune responses
- Type
- article
- Field-Weighted Citation Impact
- 0.00