Papilledema from gain-of-function mutations in the STAT3 gene

Young Woo Suh, Jonathan C. Horton

    Research output: Contribution to journalArticlepeer-review

    4 Citations (Scopus)


    Background: Signal Transducer and Activator of Transcription 3 (STAT3) gain-of-function germline mutations are associated with diverse clinical manifestations, including autoimmune cytopenia, lymphadenopathy, immunodeficiency, endocrinopathy, and enteropathy. We describe a new feature: raised intracranial pressure with papilledema. Materials and Methods: Report of two cases. Results: The first patient had a de novo heterozygous c.2144C>T (p.Pro715Leu) mutation in the STAT3 gene. At age 1 she had papilledema with marked sheathing of the proximal vessels on the optic discs. Follow-up 8 years later showed chronic papilledema, cystoid macular edema, and vision loss. The second patient had a de novo heterozygous c.2147C>T (p.Thr716Met) mutation. At age 12 he developed papilledema, which recurred despite treatment. In both patients, repeated sampling of the cerebrospinal fluid demonstrated a lymphocytic pleocytosis. Conclusions: Papilledema can occur as a manifestation of STAT3 gain-of-function mutation, sometimes accompanied by prominent vascular sheathing and cystoid macular edema. The mechanism may be chronic meningeal infiltration by white blood cells, impairing cerebrospinal fluid absorption.

    Original languageEnglish
    Pages (from-to)165-169
    Number of pages5
    JournalOphthalmic Genetics
    Issue number2
    Publication statusPublished - 2019 Mar 4

    Bibliographical note

    Publisher Copyright:
    © 2019, © 2019 Taylor & Francis Group, LLC.


    • Evans syndrome
    • cystoid macular edema
    • signal transducer and activator of transcription
    • transcription factor

    ASJC Scopus subject areas

    • Pediatrics, Perinatology, and Child Health
    • Ophthalmology
    • Genetics(clinical)


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