Papilledema from gain-of-function mutations in the STAT3 gene
DC Field | Value | Language |
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dc.contributor.author | Suh, Young-Woo | - |
dc.contributor.author | Horton, Jonathan C. | - |
dc.date.accessioned | 2021-09-01T17:51:51Z | - |
dc.date.available | 2021-09-01T17:51:51Z | - |
dc.date.created | 2021-06-19 | - |
dc.date.issued | 2019-03-04 | - |
dc.identifier.issn | 1381-6810 | - |
dc.identifier.uri | https://scholar.korea.ac.kr/handle/2021.sw.korea/67016 | - |
dc.description.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. | - |
dc.language | English | - |
dc.language.iso | en | - |
dc.publisher | TAYLOR & FRANCIS INC | - |
dc.subject | SIGNAL TRANSDUCER | - |
dc.subject | EVANS-SYNDROME | - |
dc.subject | ACTIVATOR | - |
dc.title | Papilledema from gain-of-function mutations in the STAT3 gene | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Suh, Young-Woo | - |
dc.identifier.doi | 10.1080/13816810.2019.1592202 | - |
dc.identifier.scopusid | 2-s2.0-85063900476 | - |
dc.identifier.wosid | 000464635800001 | - |
dc.identifier.bibliographicCitation | OPHTHALMIC GENETICS, v.40, no.2, pp.165 - 169 | - |
dc.relation.isPartOf | OPHTHALMIC GENETICS | - |
dc.citation.title | OPHTHALMIC GENETICS | - |
dc.citation.volume | 40 | - |
dc.citation.number | 2 | - |
dc.citation.startPage | 165 | - |
dc.citation.endPage | 169 | - |
dc.type.rims | ART | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.relation.journalResearchArea | Genetics & Heredity | - |
dc.relation.journalResearchArea | Ophthalmology | - |
dc.relation.journalWebOfScienceCategory | Genetics & Heredity | - |
dc.relation.journalWebOfScienceCategory | Ophthalmology | - |
dc.subject.keywordPlus | SIGNAL TRANSDUCER | - |
dc.subject.keywordPlus | EVANS-SYNDROME | - |
dc.subject.keywordPlus | ACTIVATOR | - |
dc.subject.keywordAuthor | Evans syndrome | - |
dc.subject.keywordAuthor | cystoid macular edema | - |
dc.subject.keywordAuthor | transcription factor | - |
dc.subject.keywordAuthor | signal transducer and activator of transcription | - |
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