Case Report: ROSAH syndrome presents diagnostic and therapeutic challenges
A diagnosis of ROSAH syndrome, suggested by the concomitant presentation of optic disc edema, uveitis, and retinal degeneration, can be made by targeted genetic sequencing of the ALKP1 gene. While ROSAH-associated ocular inflammation and macular edema may respond to local steroids and immune suppression, retinal degeneration may progress despite these therapies.
Authors
- Jessica A. Walsh (ORCID: https://orcid.org/0000-0002-9103-3945)
- Erin G. Sieck (ORCID: https://orcid.org/0000-0002-0497-8853)
- Margaret Reynolds (ORCID: https://orcid.org/0000-0003-2988-4279)
- Lynn M. Hassman (ORCID: https://orcid.org/0000-0001-9939-9071)
- Jenny Shunyakova
- A. Taylor
Institutions
- Rocky Mountain MS Center (US)
Publication Details
- Journal
- Frontiers in Ophthalmology
- Published
- 2025-03-25
- DOI
- https://doi.org/10.3389/fopht.2025.1535805
- Citations
- 3
- Primary Topic
- Biomedical Research and Pathophysiology
- Type
- article
- Field-Weighted Citation Impact
- 4.41