Ocular manifestations of STAT3 gain-of-function syndrome: A case of papillitis, retinitis, and retinal vasculitis
<i>STAT3</i>-GOF syndrome may present with bilateral optic disc edema, retinitis, and retinal vascular leakage in the setting of recurrent infections and polyendocrinopathy. This case illustrates the role of monogenic mutations in non-neoplastic autoimmune retinopathy and highlights the importance of multidisciplinary management including genetic consultation for accurate diagnosis and targeted immunomodulatory treatment.
Authors
- Jodi Hwang (ORCID: https://orcid.org/0000-0002-8118-0714)
- Sun Young Lee (ORCID: https://orcid.org/0000-0001-8637-1248)
- Asal Naderi
- Betty Situ
Institutions
- University of Southern California (US)
- Southern California Eye Institute (US)
Publication Details
- Journal
- American Journal of Ophthalmology Case Reports
- Published
- 2026-02-13
- DOI
- https://doi.org/10.1016/j.ajoc.2026.102540
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00