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Article

Somatic GNAQ R183Q mutation is located within the sclera and episclera in patients with Sturge-Weber syndrome.

The British journal of ophthalmology - 1 Jul 2022

Wu Yue, Peng Cheng, Huang Lulu, Xu Li, Ding Xuming, Liu Yixin, Zeng Changjuan, Sun Hao, Guo Wenyi

Abstract excerpt

AIMS: To determine the correspondence between GNAQ R183Q (c.548G＞A) mutation in abnormal scleral tissue of patients with Sturge-Weber syndrome (SWS) secondary glaucoma and explore the role of GNAQ R183Q in glaucoma pathogenesis. METHODS: Episcleral tissues were obtained from 8 patients: SWS secondary glaucoma (n=5) and primary congenital glaucoma (PCG, n=3). Scleral tissues were obtained from 7 patients: SWS...

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Identifiers

PMID: 33707187
DOI: 10.1136/bjophthalmol-2020-317287
PMCID: PMC9234408

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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