Papilledema from gain-of-function mutations in the STAT3 gene
- Authors
- Suh, Young-Woo; Horton, Jonathan C.
- Issue Date
- 4-3월-2019
- Publisher
- TAYLOR & FRANCIS INC
- Keywords
- Evans syndrome; cystoid macular edema; transcription factor; signal transducer and activator of transcription
- Citation
- OPHTHALMIC GENETICS, v.40, no.2, pp.165 - 169
- Indexed
- SCIE
SCOPUS
- Journal Title
- OPHTHALMIC GENETICS
- Volume
- 40
- Number
- 2
- Start Page
- 165
- End Page
- 169
- URI
- https://scholar.korea.ac.kr/handle/2021.sw.korea/67016
- DOI
- 10.1080/13816810.2019.1592202
- ISSN
- 1381-6810
- Abstract
- 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.
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Collections - College of Medicine > Department of Medical Science > 1. Journal Articles
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