Association of Somatic GNAQ Mutation With Capillary Malformations in a Case of Choroidal Hemangioma

  title={Association of Somatic GNAQ Mutation With Capillary Malformations in a Case of Choroidal Hemangioma},
  author={Colette A. Bichsel and J. Goss and M. Alomari and S. Alexandrescu and R. Robb and L. Smith and M. Hochman and A. Greene and J. Bischoff},
  journal={JAMA Ophthalmology},
  • Colette A. Bichsel, J. Goss, +6 authors J. Bischoff
  • Published 2019
  • Medicine
  • JAMA Ophthalmology
  • Importance Choroidal hemangiomas are defined by a thickened choroid owing to vessel overgrowth, which may increase the intraocular pressure and lead to glaucoma. Choroidal hemangioma and glaucoma often co-occur in patients with Sturge-Weber syndrome, a rare neurocutaneous disorder characterized by capillary malformations. Objective To determine whether the mutation found in most capillary malformations, GNAQ R183Q (c.548G>A), was present in the choroidal hemangioma of a patient with Sturge… CONTINUE READING
    8 Citations
    GNAQ Mutations in Diffuse and Solitary Choroidal Hemangiomas.
    • 7
    A somatic missense mutation in GNAQ causes capillary malformation
    • 2
    Sturge-Weber Syndrome and Haematuria: a Case Report of an Unusual Presentation
    • PDF
    Circumscribed choroidal hemangioma: Clinical features and outcomes by age category in 458 cases
    • 5
    • Highly Influenced


    Somatic GNAQ Mutation is Enriched in Brain Endothelial Cells in Sturge-Weber Syndrome.
    • 23
    Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma.
    • 90
    Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.
    • 581
    • PDF
    Endothelial Cells from Capillary Malformations Are Enriched for Somatic GNAQ Mutations
    • 63
    The ocular manifestations of the Sturge-Weber syndrome.
    • 159