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

@article{Bichsel2019AssociationOS,
  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},
  year={2019},
  volume={137},
  pages={91–95}
}
  • 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
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    Sturge-Weber Syndrome and Haematuria: a Case Report of an Unusual Presentation
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