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.

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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
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article

Ocular manifestations of STAT3 gain-of-function syndrome: A case of papillitis, retinitis, and retinal vasculitis

Jodi Hwang, Sun Young Lee, Asal Naderi, Betty Situ
American Journal of Ophthalmology Case Reports
Immunodeficiency and Autoimmune Disorders
article

Ocular manifestations of STAT3 gain-of-function syndrome: A case of papillitis, retinitis, and retinal vasculitis

Jodi Hwang, Sun Young Lee, Asal Naderi, Betty Situ
article en

Abstract

<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.

American Journal of Ophthalmology Case ReportsVol. 42
University of Southern California (US), Southern California Eye Institute (US)
Good health and well-being
Openalex Percentile: Top 55%
Immunodeficiency and Autoimmune Disorders
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